Materiały źródłowe

• #1 Treatment – Wilson Disease Association

  https://wilsondisease.org/medical-professionals/treatment/

  Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. […] Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine and Depen) and trientine (Syprine and Trientine Dihydrochloride) Both of these drugs act by chelation or binding of copper, causing its increased urinary excretion. […] Zinc acetate is approved for treating Wilson disease under the brand names (Galzin) in the U.S. and (Wilzin) in Europe. Zinc acts by inducing metallothionein and blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc is used primarily for maintenance treatment and to treat asymptomatic patients and may also be used in conjunction with chelators. Its effectiveness has been shown by more than 40 years of considerable experience in the USA and Europe. A major advantage of zinc therapy is its lack of side effects.

• #2 Treatment – Wilson Disease Association

  https://wilsondisease.org/living-with-wilson-disease/treatment/

  Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. […] Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine and Depen), trientine dihydrocholoride (Syprine) and trientine tetrahydrochoride (Cuvrior). These drugs act by chelation or binding of copper, causing its increased urinary excretion. […] Zinc acetate is approved for treating Wilson disease under the brand names (Galzin) in the U.S. and (Wilzin) in Europe. Zinc acts by inducing metallothionein and blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc is used primarily for maintenance treatment and to treat asymptomatic patients and may also be used in conjunction with chelators. Its effectiveness has been shown by more than 40 years of considerable experience in the USA and Europe. A major advantage of zinc therapy is its lack of side effects.

• #3 Treatment – Wilson Disease Association

  https://wilsondisease.org/medical-professionals/treatment/

  Patients with severe hepatitis or liver failure may require liver transplant. Patients being investigated or treated for Wilson disease should be cared for by specialists in Wilson disease or by specialists in consultation with their primary physicians. Stopping treatment completely will result in death, sometimes as quickly as within three months. Decreasing dosage of medications also can result in unnecessary disease progression. […] Taking your medicine as prescribed is extremely critical to the success of Wilson disease treatment. One of the advantages of having WD is that it is VERY treatable with effective, safe medications leading to a normal life expectancy . . . IF . . . you faithfully take your medications, as prescribed, LIFELONG. There are varying reasons for non-adherence in patients with WD and your physician has probably heard them all. Adherence is especially difficult in patients who were asymptomatic as diagnosis. These patients often do not see a cause and effect relationship.

• #4 Treatment of Wilson Disease – NIDDK

  https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/treatment

  Doctors treat Wilson disease with medicines that remove copper from the body, called chelating agents […] Zinc prevents the intestines from absorbing copper. Doctors may prescribe zinc as a maintenance treatment, after chelating agents have removed extra copper from the body. […] People who have Wilson disease need lifelong treatment. Stopping treatment may cause acute liver failure. […] Penicillamine (Cupramine, Depen) and trientine (Syprine) are two chelating agents used to treat Wilson disease. These medicines remove copper from the body. […] When treatment begins, doctors gradually increase the dose of chelating agents. People take higher doses of chelating agents until the extra copper in the body has been removed. […] Lifelong maintenance treatment prevents copper from building up again.

• #5 Wilson Disease Treatment & Management: Approach Considerations, Long-Term Monitoring, Bridge to Liver Transplantation in Acute Liver Failure

  https://emedicine.medscape.com/article/183456-treatment

  The mainstay of therapy for Wilson disease is pharmacologic treatment with chelating agents such as D-penicillamine and trientine dihydrochloride for de-coppering and maintenance. Penicillamine is the only FDA-approved therapy for initial decoppering. All forms of trientine have FDA approval for maintenance therapy, although trientine has been used off label for initial de-coppering. Zinc salts compete for adsorption of copper and act as inductors of methallothioneins, which favor a negative copper balance and a reduction of free plasmatic copper. At present, zinc has FDA approval only for maintenance therapy, not for initial de-coppering. Tetrathiomolybdate is an investigational chelating agent. […] Orthotopic liver transplantation is curative treatment for Wilson disease. However, liver support systems can act as bridges to liver transplantation.

• #6 Treatment – Wilson Disease Association

  https://wilsondisease.org/medical-professionals/treatment/

  Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. […] Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine and Depen) and trientine (Syprine and Trientine Dihydrochloride) Both of these drugs act by chelation or binding of copper, causing its increased urinary excretion. […] Zinc acetate is approved for treating Wilson disease under the brand names (Galzin) in the U.S. and (Wilzin) in Europe. Zinc acts by inducing metallothionein and blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc is used primarily for maintenance treatment and to treat asymptomatic patients and may also be used in conjunction with chelators. Its effectiveness has been shown by more than 40 years of considerable experience in the USA and Europe. A major advantage of zinc therapy is its lack of side effects.

• #7 Wilson Disease Treatment & Management: Approach Considerations, Long-Term Monitoring, Bridge to Liver Transplantation in Acute Liver Failure

  https://emedicine.medscape.com/article/183456-treatment

  The mainstay of therapy for Wilson disease is pharmacologic treatment with chelating agents such as D-penicillamine and trientine dihydrochloride for de-coppering and maintenance. Penicillamine is the only FDA-approved therapy for initial decoppering. All forms of trientine have FDA approval for maintenance therapy, although trientine has been used off label for initial de-coppering. Zinc salts compete for adsorption of copper and act as inductors of methallothioneins, which favor a negative copper balance and a reduction of free plasmatic copper. At present, zinc has FDA approval only for maintenance therapy, not for initial de-coppering. Tetrathiomolybdate is an investigational chelating agent. […] Orthotopic liver transplantation is curative treatment for Wilson disease. However, liver support systems can act as bridges to liver transplantation.

• #8 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Treatment for Wilson disease focuses on lowering toxic levels of copper in your body and preventing organ damage and the symptoms you get when your organs aren’t functioning normally. Treatment includes: […] Taking medicines that remove copper from the body (chelating agents, D-penicillamine, tetrathiomolybdate). […] Taking zinc to prevent your intestines from absorbing copper. […] Eating a diet low in copper. […] People who have Wilson disease need lifelong treatment. Stopping treatment may cause acute liver failure. Your healthcare provider will regularly perform blood and urine tests to check how the treatment is working. […] Your healthcare provider may offer several different medications to reduce the amount of copper in your body. […] Chelating agents remove copper from your body. Types of chelating agents include: Penicillamine.

• #9 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Trientine. […] When treatment begins, doctors gradually increase the dose of chelating agents. […] People take higher doses of chelating agents until the extra copper in their body goes away. […] When Wilson disease symptoms improve and tests show that copper is at safe levels, your provider may prescribe lower doses of chelating agents as maintenance treatment. Lifelong maintenance treatment prevents copper from building up again. […] Zinc prevents the intestines from absorbing copper. Your healthcare provider may prescribe zinc as a maintenance treatment after chelating agents remove extra copper from your body. […] If you’re pregnant, you should ask your provider how to continue treatment for Wilson disease throughout your pregnancy. […] Your healthcare provider may recommend changing your diet to avoid certain foods that are high in copper if you have Wilson disease.

• #10 Wilson’s disease – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/wilsons-disease/

  D-penicillamine is the first-choice medicine for Wilsons disease. […] D-penicillamine can cause diarrhoea, loss of appetite or make you feel sick (nausea). […] In some cases you might need to lower the dose of D-penicillamine for a short period of time, you should only do this on your doctors advice. […] Trientine usually causes fewer and less serious side-effects than D-penicillamine. […] Another therapy uses zinc acetate (Galzin). Zinc is known to stop your gut absorbing copper from your food. […] Because zinc reduces the amount of copper your body takes in, rather than getting rid of copper that’s already built up, you need to take a course of chelation therapy first. […] A small number of patients with Wilsons disease do not respond to copper-chelating treatment. In some cases this is because the disease is already very advanced and in others it may be because there is more than one cause of liver disease.

• #11 Wilson Disease Care: Key Supplements and Effective Treatment Approaches

  https://www.rupahealth.com/post/wilson-disease-care-key-supplements-and-effective-treatment-approaches

  Treatment for WD falls into three different steps depending on the presentation and symptoms. The treatment approach varies for symptomatic and asymptomatic patients with active disease based on biomarker testing. […] Copper chelating agents are the primary treatment for WD. While D-Penicillamine is the first-line option, about 30% of patients discontinue it due to side effects. To improve tolerability, a „start low and go slow” approach is recommended. […] For patients who cannot tolerate D-Penicillamine, trientine hydrochloride is an effective alternative, particularly for those with conditions like thrombocytopenia or neutropenia. Trientine generally has fewer neurological side effects than D-Penicillamine, though direct comparisons are limited. […] In 2022, the FDA approved trientine tetrahydrochloride for maintenance therapy in adult patients who tolerate D-Penicillamine. This new option offers twice-daily dosing and does not require refrigeration, potentially improving adherence.

• #12 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease is typically treated with dietary changes and medication. Dietary changes involve eating a low-copper diet and not using copper cookware. Medications used include chelating agents, such as trientine and D-penicillamine, and zinc supplements. Complications of Wilson’s disease can include liver failure and kidney problems. A liver transplant may be helpful to those for whom other treatments are not effective or if liver failure occurs. […] Medical treatments are available for Wilson’s disease. Some increase the removal of copper from the body, while others prevent the absorption of copper from the diet. […] Generally, penicillamine is the first treatment used. This binds to copper (by chelation) and leads to excretion of copper in the urine. […] In those who presented with neurological symptoms, almost half experience a paradoxical worsening in their symptoms.

• #13 Advances in Treatment of Wilson Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.435

  Medical treatment options of WD are drugs that chelate copper and those that prevent gastrointestinal copper absorption. In order of introduction, the available copper chelators are dimercaprol, penicillamine, dimercaptopropane sulfonate, and trientine. […] Zinc administered in the form of zinc salts decreases intestinal dietary copper absorption. […] Penicillamine is recommended for use in symptomatic patients during the initial intensive phase of treatment and later as maintenance therapy. It is also recommended in presymptomatic patients. […] The therapeutic response is best seen clinically. The liver dysfunction usually stabilizes and histological improvement has been demonstrated. Neurological disability reverses in a majority of patients. […] Trientine was developed as, and has proved to be, a life-saving treatment option in patients in whom penicillamine had to be discontinued due to adverse events. […] It is now also used as a first-line therapy in the initial intensive and the later maintenance phase of treatment in symptomatic patients.

• #14 Wilson’s disease – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/wilsons-disease/

  D-penicillamine is the first-choice medicine for Wilsons disease. […] D-penicillamine can cause diarrhoea, loss of appetite or make you feel sick (nausea). […] In some cases you might need to lower the dose of D-penicillamine for a short period of time, you should only do this on your doctors advice. […] Trientine usually causes fewer and less serious side-effects than D-penicillamine. […] Another therapy uses zinc acetate (Galzin). Zinc is known to stop your gut absorbing copper from your food. […] Because zinc reduces the amount of copper your body takes in, rather than getting rid of copper that’s already built up, you need to take a course of chelation therapy first. […] A small number of patients with Wilsons disease do not respond to copper-chelating treatment. In some cases this is because the disease is already very advanced and in others it may be because there is more than one cause of liver disease.

• #15 Treatment – Wilson Disease Association

  https://wilsondisease.org/living-with-wilson-disease/treatment/

  In May 2022 the FDA approved the first new drug for Wilson disease in 30 years CUVRIOR (trientine tetrahydrochloride), made by a French company Orphalan. […] Trientine is approved for distribution in Canada. It is on the market and the patient or physician should check with their Pharmacy to see if it is available in their area. […] Cost Plus Drug Company is providing generic Syprine (the generic is called trientine) and generic Cuprimine (the generic is called penicillamine) at a low cost.

• #16 Treatment – Wilson Disease Association

  https://wilsondisease.org/medical-professionals/treatment/

  Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. […] Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine and Depen) and trientine (Syprine and Trientine Dihydrochloride) Both of these drugs act by chelation or binding of copper, causing its increased urinary excretion. […] Zinc acetate is approved for treating Wilson disease under the brand names (Galzin) in the U.S. and (Wilzin) in Europe. Zinc acts by inducing metallothionein and blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc is used primarily for maintenance treatment and to treat asymptomatic patients and may also be used in conjunction with chelators. Its effectiveness has been shown by more than 40 years of considerable experience in the USA and Europe. A major advantage of zinc therapy is its lack of side effects.

• #17 Wilson’s disease: A review of what we have learned

  https://www.wjgnet.com/1948-5182/full/v7/i29/2859.htm

  Trientine was developed and introduced in 1969 as an alternative for patients intolerant to D-penicillamine and favors urinary excretion of copper. […] Zinc acetate is regarded to have a better gastric tolerance. […] Its mechanism of action is different from the above mentioned agents, in that it induces enterocyte metallothionein, an endogenous chelator of metals, thus favoring copper entrapment into enterocytes and its elimination in the feces with the normal shedding of intestinal cells. […] Whenever the therapeutic decision to switch from chelators to zinc is made, it should be noted that since the maximum induction of intestinal metalloproteins occurs three weeks after the initiation of zinc, the chelator should be continued for this period of time, administered at least one hour before or after zinc.

• #18 Wilson Disease Care: Key Supplements and Effective Treatment Approaches

  https://www.rupahealth.com/post/wilson-disease-care-key-supplements-and-effective-treatment-approaches

  Zinc is a key supplement in WD, helping to reduce copper absorption in the gut and manage copper levels. It is often used for long-term maintenance, especially in asymptomatic patients and those with neurological symptoms. Zinc can also potentially reduce oxidative liver injury from excess copper. […] A pooled analysis of 16 studies suggests that zinc can be as effective as D-penicillamine for liver-related WD and may be more effective for neurological symptoms, with fewer side effects. […] Continued use of supplements helps prevent copper buildup and related symptoms. Regular monitoring of copper levels, free copper (not bound to ceruloplasmin), liver function, and other markers is important. […] Treatment of neurological, psychiatric, and other symptoms should involve a multidisciplinary team for comprehensive care. […] Liver transplantation may be considered for patients who do not respond well to chelating agents and zinc, or in cases of severe liver failure.

• #19 Treatment – Wilson Disease Association

  https://wilsondisease.org/living-with-wilson-disease/treatment/

  Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. […] Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine and Depen), trientine dihydrocholoride (Syprine) and trientine tetrahydrochoride (Cuvrior). These drugs act by chelation or binding of copper, causing its increased urinary excretion. […] Zinc acetate is approved for treating Wilson disease under the brand names (Galzin) in the U.S. and (Wilzin) in Europe. Zinc acts by inducing metallothionein and blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc is used primarily for maintenance treatment and to treat asymptomatic patients and may also be used in conjunction with chelators. Its effectiveness has been shown by more than 40 years of considerable experience in the USA and Europe. A major advantage of zinc therapy is its lack of side effects.

• #20 Wilson’s disease at a glance – Vivet Therapeutics

  https://www.vivet-therapeutics.com/pipeline/wilsons-disease-at-a-glance/

  All patients diagnosed with Wilsons Disease must be treated for life to prevent the development of severe neuropsychiatric and hepatic complications. […] In general, the treatment follows 2 phases: Decoppering phase for 6-12 months using copper chelators (mainly D-penicillamine or trientine) to reduce accumulated copper by increasing urinary copper excretion, Maintenance phase to maintain acceptable copper levels using either reduced doses of copper chelators or zinc salts (zinc reduces intestinal dietary copper absorption). Occasionally, copper chelators and zinc may be used in combination. Zinc salts may also be used directly in some pre-symptomatic patients. Current medical treatments are constraining since they must be taken 3-4 times/day for life, at specific times away from meals, and may also be associated with significant side effects.

• #21 Wilson’s Disease Treatment Market To Rise Exponentially in Future

  https://www.delveinsight.com/blog/wilson-disease-pipeline-therapies

  Wilsons disease treatment is life-long and aimed at lowering copper levels to nontoxic levels, and at preventing the progression of the disease. […] Wilsons disease treatment may be divided into three parts: first, treatment of symptomatic patients; second, maintenance therapy after the copper has been reduced in affected tissues; and third, in asymptomatic Wilsons disease patients, maintenance therapy may be used from the beginning. […] Life-long Wilsons disease treatment aims to promote the removal of accumulated copper from the body to non-toxic levels and to reverse the signs and symptoms due to the accumulation of copper in the body. […] The conventional drug therapy for Wilsons disease include treating symptomatic individuals, their maintenance after reducing copper, and advising maintenance therapy among asymptomatic individuals.

• #22 Wilson’s disease at a glance – Vivet Therapeutics

  https://www.vivet-therapeutics.com/pipeline/wilsons-disease-at-a-glance/

  All patients diagnosed with Wilsons Disease must be treated for life to prevent the development of severe neuropsychiatric and hepatic complications. […] In general, the treatment follows 2 phases: Decoppering phase for 6-12 months using copper chelators (mainly D-penicillamine or trientine) to reduce accumulated copper by increasing urinary copper excretion, Maintenance phase to maintain acceptable copper levels using either reduced doses of copper chelators or zinc salts (zinc reduces intestinal dietary copper absorption). Occasionally, copper chelators and zinc may be used in combination. Zinc salts may also be used directly in some pre-symptomatic patients. Current medical treatments are constraining since they must be taken 3-4 times/day for life, at specific times away from meals, and may also be associated with significant side effects.

• #23 Wilson’s disease: A review of what we have learned

  https://www.wjgnet.com/1948-5182/full/v7/i29/2859.htm

  Although not standardized, combined therapy, with the administration of either D-penicillamine and zinc, or trientine and zinc, at widely spaced intervals during the day, is a valid strategy that has yielded good results. […] Liver transplantation is the recommended therapy for patients with fulminant hepatitis, or in those with relentless progression of hepatic dysfunction despite drug therapy, and survival rates are only very slightly inferior to those after transplant for other indications. […] Tetrathiomolybdate, another copper-chelating drug with antiangiogenic properties, derives from experience in the veterinary field, where this agent has been used to treat copper-poisoning. […] Vitamin E, a powerful antioxidant, may be used as adjunctive treatment, especially in the scenario of liver failure.

• #24 Treatments for Wilson Disease | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/wilson-disease/treatments.html

  There is no cure for Wilson disease. Lifelong treatment is necessary and could include: […] Taking copper-chelating medications, which help your bodys organs and tissues get rid of excess copper […] Reducing the amount of copper you get through food […] Taking zinc supplements. Zinc prevents your body from absorbing copper from your diet […] Getting extra vitamin B6 […] Treating any damage to your liver or central nervous system (or both) […] Taking medications to treat symptoms, such as muscle problems (tremors, stiffness) […] Getting a liver transplant, if you have extensive liver damage. This procedure has about an 80 percent survival rate. […] Your doctor may suggest medication to help keep copper under control. You may also need dietary changes to help reduce your copper intake, including:

• #25 Wilson’s disease: Definition, cause, symptoms, treatment, and more

  https://www.medicalnewstoday.com/articles/wilsons-disease

  There are different types of treatment medications for Wilsons disease: chelating agents, which bind to copper and help the body excrete it in the urine […] zinc, which prevents copper absorption by the intestines. A person may experience an upset stomach when taking zinc. The chelating agents include penicillamine and trientine. A person is more likely to experience side effects when taking penicillamine. These may include: fever, rash, kidney issues, bone marrow problems, reduction in the activity of vitamin B6. A person may also need to take vitamin B6 supplements alongside chelating agents. It is worth noting, however, that such supplements can interfere with wound healing, so if a person is planning to have surgery, a doctor may prescribe lower doses. Treating Wilsons disease is a lifelong commitment, as stopping treatment means that the copper will build up again. Treatment can prevent or improve symptoms and organ damage.

• #26 Wilson disease | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/wilson-disease

  Wilson disease is fatal without medical treatment. […] There is no cure, but the condition can be managed. […] Treatment options include medications, chelation therapy and avoiding foods high in copper. […] The aims of treatment are to reduce the amount of copper in the body and control the symptoms. Treatment must be lifelong. […] Options may include: vitamin B6 to bolster the nervous system, potassium supplements, taken before eating, to reduce the absorption of dietary copper, zinc therapy to prevent the absorption of copper in the small intestine, switching to a diet low in copper, chelation therapy, which is the use of medications (such as penicillamine) that bind to copper and allow it to be excreted in the urine, regular blood and urine tests to check copper levels so that treatment can be adjusted if necessary, liver transplant in severe cases, genetic counselling and testing for the family. […] Management of Wilson disease is lifelong. It is important to switch to a low copper diet.

• #27 Wilson Disease Medication: Chelators, Nutrients

  https://emedicine.medscape.com/article/183456-medication

  Other medications used to treat Wilson disease include anticholinergics, baclofen, gamma-aminobutyric acid (GABA) antagonists, and levodopa, to treat parkinsonism and dystonia symptoms; antiepileptics to treat seizures; and neuroleptics to treat psychiatric symptoms. […] Ammonium tetrathiomolybdate is an investigational chelating drug used at the University of Michigan as an initial treatment for patients who present with neurologic or psychiatric manifestations. […] Penicillamine forms soluble complexes with metals excreted in urine. It was the drug of choice before newer regimens were available. […] Trientine is an effective oral chelator used to induce cupruresis. It is also effective as an oral maintenance therapy. […] Dimercaprol is for refractory cases of Wilson disease that are not responding to first- or second-line chelation treatment. […] Zinc is approved for maintenance treatment after initial chelation therapy to decrease zinc absorption in the gut. […] Pyridoxine is involved in synthesis of GABA within the CNS.

• #28 Wilson Disease Medication: Chelators, Nutrients

  https://emedicine.medscape.com/article/183456-medication

  Other medications used to treat Wilson disease include anticholinergics, baclofen, gamma-aminobutyric acid (GABA) antagonists, and levodopa, to treat parkinsonism and dystonia symptoms; antiepileptics to treat seizures; and neuroleptics to treat psychiatric symptoms. […] Ammonium tetrathiomolybdate is an investigational chelating drug used at the University of Michigan as an initial treatment for patients who present with neurologic or psychiatric manifestations. […] Penicillamine forms soluble complexes with metals excreted in urine. It was the drug of choice before newer regimens were available. […] Trientine is an effective oral chelator used to induce cupruresis. It is also effective as an oral maintenance therapy. […] Dimercaprol is for refractory cases of Wilson disease that are not responding to first- or second-line chelation treatment. […] Zinc is approved for maintenance treatment after initial chelation therapy to decrease zinc absorption in the gut. […] Pyridoxine is involved in synthesis of GABA within the CNS.

• #29 Wilson Disease Medication: Chelators, Nutrients

  https://emedicine.medscape.com/article/183456-medication

  Other medications used to treat Wilson disease include anticholinergics, baclofen, gamma-aminobutyric acid (GABA) antagonists, and levodopa, to treat parkinsonism and dystonia symptoms; antiepileptics to treat seizures; and neuroleptics to treat psychiatric symptoms. […] Ammonium tetrathiomolybdate is an investigational chelating drug used at the University of Michigan as an initial treatment for patients who present with neurologic or psychiatric manifestations. […] Penicillamine forms soluble complexes with metals excreted in urine. It was the drug of choice before newer regimens were available. […] Trientine is an effective oral chelator used to induce cupruresis. It is also effective as an oral maintenance therapy. […] Dimercaprol is for refractory cases of Wilson disease that are not responding to first- or second-line chelation treatment. […] Zinc is approved for maintenance treatment after initial chelation therapy to decrease zinc absorption in the gut. […] Pyridoxine is involved in synthesis of GABA within the CNS.

• #30 Wilson’s disease: A review of what we have learned

  https://www.wjgnet.com/1948-5182/full/v7/i29/2859.htm

  Although not standardized, combined therapy, with the administration of either D-penicillamine and zinc, or trientine and zinc, at widely spaced intervals during the day, is a valid strategy that has yielded good results. […] Liver transplantation is the recommended therapy for patients with fulminant hepatitis, or in those with relentless progression of hepatic dysfunction despite drug therapy, and survival rates are only very slightly inferior to those after transplant for other indications. […] Tetrathiomolybdate, another copper-chelating drug with antiangiogenic properties, derives from experience in the veterinary field, where this agent has been used to treat copper-poisoning. […] Vitamin E, a powerful antioxidant, may be used as adjunctive treatment, especially in the scenario of liver failure.

• #31 Gene Therapy Among the New Possible Treatments for Wilson’s Disease, a Rare Liver Disease

  https://www.managedhealthcareexecutive.com/view/gene-therapy-among-the-new-possible-treatments-for-wilson-s-disease-a-rare-liver-disease

  Two gene therapy trials using adeno-associated viral vectors are underway. […] A review paper published recently in the New England Journal of Medicine says lifelong treatment with chelators is effective but adherence is a problem. […] Oral chelators revolutionized the treatment of Wilsons disease, say Roberts and Schilsky, and penicillamine (provided as D-penicillamine) and trientine (dihydrochloride) remain the main treatments. […] Once there is a diagnosis, people with Wilsons disease should be on lifelong treatment, according to Roberts and Schilsky. But that also makes for problems with adherence, which they characterize as a major challenge for patients, who must take, at a minimum, twice-daily medication for the rest of their lives or risk severe clinical deterioration. […] The review by Roberts and Schilsky also includes a discussion of emerging treatments

• #32 Advances in Treatment of Wilson Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.435

  Zinc is recommended as maintenance therapy in symptomatic patients once symptoms have regressed following treatment with oral copper chelators. […] It has also been given as the first-line therapy in asymptomatic patients. […] From the time of introduction of penicillamine, WD has been a treatable disorder. Patients with WD can be expected to live healthy and normal lives. […] If WD is diagnosed in the presymptomatic stage, symptom onset and copper-related tissue injury can be prevented. […] The mainstays of treatment of WD are the two oral chelators, penicillamine and trientine. […] Recent, relatively large, patient studies from various parts of the world have confirmed earlier reports that both penicillamine and trientine are generally safe and effective.

• #33 Wilson disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/wilson-disease

  The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation. Certain medicines are given that bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong. […] The following medicines may be used: Penicillamine (such as Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine. Trientine (such as Syprine) binds (chelates) the copper and increases its release through the urine. Zinc acetate (such as Galzin) blocks copper from being absorbed in the intestinal tract. […] Vitamin E supplements may also be used. […] A low-copper diet may also be recommended. Foods to avoid include: Chocolate, Dried fruit, Liver, Mushrooms, Nuts, Shellfish. […] Symptoms may be managed with exercise or physical therapy. People who are confused or unable to care for themselves may need special protective measures. […] A liver transplant may be considered in cases where the liver is severely damaged by the disease.

• #34 Wilson’s Disease Treatment | Symptoms and Diagnosis – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/liver-diseases-hepatology/wilsons-disease

  Taking medicines to help your bodys organs and tissues get rid of extra copper (copper-chelating medication) […] Reducing the amount of copper you take in through food, including avoiding shellfish, chocolate, liver, mushrooms or other foods high in copper […] Taking zinc supplements to prevent your body from absorbing copper from your diet […] Treating symptoms caused by damage to your liver or central nervous system […] Taking medicines to treat muscle tremors or stiffness […] Receiving a liver transplant if you have severe liver damage.

• #35 What is Wilson’s Disease? Symptoms, Diagnosis and Treatment | Çetin Karaca

  https://cetinkaraca.com/en/what-is-wilsons-disease-symptoms-diagnosis-and-treatment/

  In Wilson patients, consumption of certain foods with high copper content, such as giblets, lobster, mussels, crab, chocolate, soybeans, peas, mushrooms, dried kernels and peanuts, and beer and mineral drinks should be restricted. Since cooking foods in copper pots will increase the amount of copper taken, copper pots should not be used for cooking and storage. […] If there is more than 0.1 ppm copper in drinking water, the use of this water may be risky for Wilsons patients. Copper-containing intrauterine device (spirals) should not be used for birth control in women with Wilsons disease.

• #36 Wilson’s disease – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/wilsons-disease/

  In these circumstances, a liver transplant may be the only remaining life-saving treatment option. […] After being diagnosed with Wilsons disease you will probably need to follow a low copper diet for a short time. […] If the medicines are working well and your condition is stable, you probably won’t need to carry on following a strict low copper diet in the long term.

• #37 Wilson Disease Treatment & Management: Approach Considerations, Long-Term Monitoring, Bridge to Liver Transplantation in Acute Liver Failure

  https://emedicine.medscape.com/article/183456-treatment

  Lifelong, uninterrupted chelation therapy is necessary in all patients with Wilson disease. Frequent follow-up with patients is necessary, secondary to patient decompensation due to noncompliance. This is one of the major causes of fulminant liver failure. Patients must avoid most alcohol consumption and potential hepatotoxic drug therapy. […] Orthotopic liver transplantation is curative treatment for Wilson disease. However, liver support therapies such as molecular adsorbents recirculating system (MARS) and high volume plasma exchange (HVPE) may be used as bridges to liver transplantation.

• #38 Treatments for Wilson Disease | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/wilson-disease/treatments.html

  It’s also important to return to your doctor for regular follow-up visits and lab tests, to make sure your copper levels are under control. […] If you want to get pregnant, or are pregnant, tell your doctor. You may need to change your medication dosages, so you can have a healthy pregnancy. […] Also, talk with your doctor about other steps you can take to keep your liver healthy, such as getting vaccinated against hepatitis A and B.

• #39 Wilsons Disease — Irish Liver Foundation

  https://www.liverfoundation.ie/wilsons-disease

  Treatment for Wilson’s disease typically involves medications that help your body get rid of excess copper (chelating agents) by binding the copper and helping you eliminate it out in your urine. […] You then take them for the rest of your life at a lower dose to prevent the copper building back up again. […] It is very important to stay on these medications long term, and take them every day. […] They are safe treatments available for women who are pregnant and breastfeeding. […] Your doctor might change these medications (d-penicillamine, trientine, zine) based on side effects, if it is not working very well based on your blood or urine tests. […] The main way your doctor has of monitoring your treatment is through analysis of your urine.

• #40 Wilson Disease: Facts, Causes & Treatment

  https://liverfoundation.org/liver-diseases/rare-disease/wilsons-disease/

  Wilson Disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion. Patients will also need to take vitamin B6 and follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. If detected early and treated properly, a person with Wilson disease can enjoy completely normal health. […] Patients with acute liver failure due to Wilson Disease should be considered for liver transplantation. Liver transplantation effectively cures this disease, with a long-term survival rate of about 80%.

• #41 Wilson Disease Treatment & Management: Approach Considerations, Long-Term Monitoring, Bridge to Liver Transplantation in Acute Liver Failure

  https://emedicine.medscape.com/article/183456-treatment

  Lifelong, uninterrupted chelation therapy is necessary in all patients with Wilson disease. Frequent follow-up with patients is necessary, secondary to patient decompensation due to noncompliance. This is one of the major causes of fulminant liver failure. Patients must avoid most alcohol consumption and potential hepatotoxic drug therapy. […] Orthotopic liver transplantation is curative treatment for Wilson disease. However, liver support therapies such as molecular adsorbents recirculating system (MARS) and high volume plasma exchange (HVPE) may be used as bridges to liver transplantation.

• #42 Wilson’s disease: A review of what we have learned

  https://www.wjgnet.com/1948-5182/full/v7/i29/2859.htm

  Although not standardized, combined therapy, with the administration of either D-penicillamine and zinc, or trientine and zinc, at widely spaced intervals during the day, is a valid strategy that has yielded good results. […] Liver transplantation is the recommended therapy for patients with fulminant hepatitis, or in those with relentless progression of hepatic dysfunction despite drug therapy, and survival rates are only very slightly inferior to those after transplant for other indications. […] Tetrathiomolybdate, another copper-chelating drug with antiangiogenic properties, derives from experience in the veterinary field, where this agent has been used to treat copper-poisoning. […] Vitamin E, a powerful antioxidant, may be used as adjunctive treatment, especially in the scenario of liver failure.

• #43 Wilson’s Disease | Cleveland Clinic

  https://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/wilsons-disease

  With stabilization of these clinical and biochemical parameters, patients can be switched to maintenance therapy. […] Dietary intake of foods rich in copper should be avoided, particularly during the initial phase of treatment. […] For WD patients who become pregnant, the doses of penicillamine or trientine should be reduced during the second trimester and the first 2 months of the third trimester, to 500 mg/day maximum, and to 250 mg/day for the month before delivery and for up to 1 month postpartum. […] The key to long-term success of pharmacologic treatment for WD is the patient’s adherence to treatment. […] OLT is indicated in the extreme circumstances mentioned when there is evidence of impending liver failure.

• #44 Wilson’s Disease – Liver Foundation

  https://liver.org.au/your-liver/liver-diseases/wilsons-disease/

  If the liver damage is severe, someone with Wilson’s disease may need a liver transplant. This will cure the disease. […] Liver damage can be prevented and sometimes reversed by taking chelating medication that binds copper and removes it from the body, eating a healthy diet, plenty of physical activity, having certain vaccinations, and avoiding alcohol.

• #45 Treatment of Wilson Disease – NIDDK

  https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/treatment

  Pregnant women should continue treatment for Wilson disease throughout pregnancy. Doctors may prescribe a lower dose of chelating agents for women who are pregnant. […] If Wilson disease leads to cirrhosis, doctors can treat health problems and complications related to cirrhosis with medicines, surgery, and other medical procedures. […] If Wilson disease causes acute liver failure or liver failure due to cirrhosis, you may need a liver transplant. A liver transplant cures Wilson disease in most cases.

• #46 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Trientine. […] When treatment begins, doctors gradually increase the dose of chelating agents. […] People take higher doses of chelating agents until the extra copper in their body goes away. […] When Wilson disease symptoms improve and tests show that copper is at safe levels, your provider may prescribe lower doses of chelating agents as maintenance treatment. Lifelong maintenance treatment prevents copper from building up again. […] Zinc prevents the intestines from absorbing copper. Your healthcare provider may prescribe zinc as a maintenance treatment after chelating agents remove extra copper from your body. […] If you’re pregnant, you should ask your provider how to continue treatment for Wilson disease throughout your pregnancy. […] Your healthcare provider may recommend changing your diet to avoid certain foods that are high in copper if you have Wilson disease.

• #47 Wilson’s Disease | Cleveland Clinic

  https://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/wilsons-disease

  With stabilization of these clinical and biochemical parameters, patients can be switched to maintenance therapy. […] Dietary intake of foods rich in copper should be avoided, particularly during the initial phase of treatment. […] For WD patients who become pregnant, the doses of penicillamine or trientine should be reduced during the second trimester and the first 2 months of the third trimester, to 500 mg/day maximum, and to 250 mg/day for the month before delivery and for up to 1 month postpartum. […] The key to long-term success of pharmacologic treatment for WD is the patient’s adherence to treatment. […] OLT is indicated in the extreme circumstances mentioned when there is evidence of impending liver failure.

• #48 Wilson’s Disease with Acute Hepatic Onset: How to Diagnose and Treat It

  https://www.mdpi.com/2227-9067/11/1/68

  Treatment for WD patients depends on the clinical phenotype and should be individualized, based on the severity of symptoms. […] Although it is reported that ALF-WD patients with an NWI ≥ 11 needed liver transplantation, in recent years, some of them have been successfully treated without it, also in the presence of encephalopathy. […] In clinical practice, when the diagnosis of ALF-WD is made, careful staging of the patient is required with the help of available prognostic scores. Symptomatic supportive therapies should be promptly initiated and specific therapies with chelators and zinc salts should be considered. […] Plasmapheresis has been shown to rapidly reduce serum copper levels and in most cases was used as a bridge to liver transplantation so that it can be a therapeutic option for children and young adults presenting with ALF-WD.

• #49 New EASL-ERN Clinical Practice Guidelines on the management of Wilson’s disease – EASL-The Home of Hepatology.

  https://easl.eu/news/easl-cpgs-wilsons-disease/

  EASL, in collaboration with the European Reference Network on Rare Liver Diseases (ERN-Rare Liver) has published the updated Clinical Practice Guidelines (CPG) on Wilsons Disease. […] The new guidelines introduce significant advancements and refinements in the diagnosis, monitoring, and treatment of Wilsons disease. […] Enhanced guidance on therapy monitoring now includes REC alongside traditional parameters, providing a more nuanced approach to detecting poor compliance and optimising treatment. […] The guidelines now recognise neurological symptoms as a valid indication for liver transplantation, broadening the therapeutic scope for patients with severe neurological involvement. […] The new guidelines provide detailed protocols for managing acute liver failure, emphasising the role of chelation therapy and high-volume plasma exchange as critical interventions. […] Pharmacotherapy with chelators should commence immediately upon diagnosis. Additionally, high-volume plasma exchange is recommended as a supplementary therapy to stabilise patients before transplantation can be arranged.

• #50 Wilson’s Disease with Acute Hepatic Onset: How to Diagnose and Treat It

  https://www.mdpi.com/2227-9067/11/1/68

  Wilson’s disease (WD) with acute onset poses a diagnostic challenge because it is clinically indistinguishable from other acute liver diseases. […] In the case of fulminant onset, there is a clear indication of liver transplantation. “New Wilson Index” is frequently used to discriminate between patients who need liver transplantation versus those who can be successfully managed by medical treatment, but its reliability remains controversial. […] The overall therapeutic goal of WD is to block or reverse organ damage related to copper accumulation. This can be achieved through medical therapy or, in case of non-response, through liver transplantation. For WD patients, lifelong medical therapy is required. It includes treatment with copper chelators (penicillamine or trientine) or zinc salts according to available guidelines.

• #51 Wilson Disease | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/wilson-disease

  Treatment for Wilson disease involves oral medications that help the liver excrete copper and prevent it from accumulating again. […] Drugs like penicillamine and trientine work by binding to copper (a process called chelation) and causing it to be excreted through the urine. Children with Wilson disease need to take these medications several times a day for the rest of their lives. […] The clinician will recommend avoiding foods that are high in copper. These include the following: mushrooms, nuts, chocolate, dried fruit, liver, shellfish. […] Once the existing copper is removed from the body, some children may be able to switch to zinc therapy. Zinc helps block the body’s absorption of copper. […] In advanced stages of liver disease brought on by Wilson disease, a liver transplant may be necessary.

• #52 Wilson’s Disease | Causes, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/w/wilsons-disease

  Wilson’s disease is treated with medicine that must be taken for life. For patients who have symptoms, the first goal of treatment is to remove as much copper from the body as possible. This is done with medicines called D-penicillamine or trientine hydrochloride. It may be weeks before it is clear whether the treatment worked. […] To manage Wilson’s disease, the focus of treatment is to reduce the amount of copper absorbed by the body. Taking extra zinc may help block the body’s absorption of copper. Patients also take vitamin B6 and follow a low-copper diet. This means avoiding mushrooms, nuts, chocolate, dried fruit, liver and shellfish. […] Sometimes this drug therapy does not get rid of the high amounts of copper in the body. Liver transplant surgery may be needed for those with acute liver failure or very advanced liver disease. If a liver transplant is needed, the care team will treat symptoms and work to prevent complications while waiting for a donated liver.

• #53 Wilson Disease – Seattle Children’s

  https://www.seattlechildrens.org/conditions/wilson-disease/

  Treatment for Wilson disease is lifelong. The first step is to get rid of extra copper in the body. Then the goal is to keep copper levels normal, using medicines and a low-copper diet. […] We offer clinical trials on new approaches, such as gene therapy to introduce a new gene into the body to help treat the disease. […] Most children with Wilson disease need medicines that bind to copper, such as trientine. These medicines are called chelating agents. […] Some patients may need to take zinc, a supplement that helps stop the gut from absorbing copper. […] To help keep normal copper levels in the body, your child should avoid these foods: Nuts, Chocolate, Dried fruit, Liver and other organ meats, Shellfish, Mushrooms. […] We will check the health and function of your child’s liver and treat any problems.

• #54 Treatment – Wilson Disease Association

  https://wilsondisease.org/living-with-wilson-disease/treatment/

  Patients with severe hepatitis or liver failure may require liver transplant. Patients being investigated or treated for Wilson disease should be cared for by specialists in Wilson disease or by specialists in consultation with their primary physicians. Stopping treatment completely will result in death, sometimes as quickly as within three months. Decreasing dosage of medications also can result in unnecessary disease progression. […] Taking your medicine as prescribed is extremely critical to the success of Wilson disease treatment. One of the advantages of having WD is that it is VERY treatable with effective, safe medications leading to a normal life expectancy . . . IF . . . you faithfully take your medications, as prescribed, LIFELONG. There are varying reasons for non-adherence in patients with WD and your physician has probably heard them all. Adherence is especially difficult in patients who were asymptomatic as diagnosis. These patients often do not see a cause and effect relationship.

• #55 Persistence with treatment for Wilson disease: a retrospective study | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1502-4

  Wilson disease (WD) is genetically induced failure of copper metabolism which can be successfully treated with pharmacological agents. The prognosis for survival in most WD patients is favorable if diagnosis and anti-copper treatment are provided early. […] Therapy is based on products that promote urinary excretion of copper (D-penicillamine and trientine) or prevent its absorption via the gastrointestinal tract (zinc salts). […] Unfortunately, in some patients, the disease is relentlessly progressive even despite of treatment. […] The persistence rate with WD treatment, among analyzed patients, was 74.1%. Treatment persistence had a significantly positive impact on clinical outcome. In patients classified as persistent, positive outcomes were observed more frequently: improvement (29.4%) and lack of progression of disease (68.3%) vs. those who made breaks in drug intake (2.3%; and 45.5%, respectively).

• #56 Persistence with treatment for Wilson disease: a retrospective study | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1502-4

  Overall, 52 (30.5%) patients received higher education while 78 (45.8%) received upper secondary/post-secondary education and 40 (23.5%) patients received vocational education. Education appeared to affect persistence rate, such that persistent patients were more likely to report higher education with no difference for vocational education level. […] In conclusion, our data show that treatment persistence is a key factor for a positive clinical outcome over the course of treatment for WD. It appears that the type of treatment to prescribe is less important than the fact that the medication is used persistently. Higher education and a positive, supportive family position toward WD treatment seem to be the most important factors that may impact the correct administration of de-coppering medicines by WD patients.

• #57 Advances in Treatment of Wilson Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.435

• #58 Persistence with treatment for Wilson disease: a retrospective study | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1502-4

  Wilson disease (WD) is genetically induced failure of copper metabolism which can be successfully treated with pharmacological agents. The prognosis for survival in most WD patients is favorable if diagnosis and anti-copper treatment are provided early. […] Therapy is based on products that promote urinary excretion of copper (D-penicillamine and trientine) or prevent its absorption via the gastrointestinal tract (zinc salts). […] Unfortunately, in some patients, the disease is relentlessly progressive even despite of treatment. […] The persistence rate with WD treatment, among analyzed patients, was 74.1%. Treatment persistence had a significantly positive impact on clinical outcome. In patients classified as persistent, positive outcomes were observed more frequently: improvement (29.4%) and lack of progression of disease (68.3%) vs. those who made breaks in drug intake (2.3%; and 45.5%, respectively).

• #59 Advances in Treatment of Wilson Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.435

• #60 Wilson Disease

  https://patienteducation.asgct.org/disease-treatments/wilson-disease

  Gene therapy aims to be a one-time treatment that delivers a working ATP7B gene into cells to produce working transporter proteins. The goal is to restore proper liver function and remove excess copper. […] There is an active gene therapy clinical trial for Wilson disease, while other research is still in preclinical studies. […] For some, the effects of Wilson disease can be prevented or treated by lifelong medical treatments, that are often given daily to lower copper in the body to nontoxic levels. However, these available treatments are not effective for everyone, so some may consider gene therapy as an option. […] Participating in a trial may offer many potential benefits compared to not receiving any form of intervention for a fatal disease. Gene therapy aims to be a one-time treatment with lasting positive effects to slow or stop disease progression for a lifetime, but again there is no guarantee. […] At this time, we do not know if or when gene therapies will be approved by the FDA and commercially available for people living with Wilson disease. The overall process may take several more years, until it is deemed safe and effective by the FDA.

• #61 A Cure for Wilson Disease? A World Expert Eyes Gene Therapy > News > Yale Medicine

  https://www.yalemedicine.org/news/wilson-disease-a-world-expert-eyes-gene-therapy

  We give the patient an infusion that contains a sort of Trojan horsea dead virus inside of which is a shortened version of the ATP7B gene that will fit inside the virus. The idea is that this invader will reach the liver cells, and the enclosed gene will initiate production of the protein that would normally restore proper copper metabolism. […] Another exciting area of potential treatment advance is gene repair, and there are newer methodologies that may allow gene editing to fix the mutations in patients cells. By targeting the repair mechanism along with a proper template for the correction of the mutation to the liver, the process can potentially restore the function of the liver cells to handle copper properly.

• #62 First Wilson Disease patient receives gene therapy at UC Davis Health

  https://health.ucdavis.edu/news/headlines/first-wilson-disease-patient-receives-gene-therapy-at-uc-davis-health/2023/09

  Wilson Disease, a rare genetic disorder with no cure, has evaded comprehensive treatment for generations of patients. […] However, researchers at UC Davis Health have infused their first Wilson Disease patient with a gene therapy as part of a groundbreaking new clinical trial. The treatment has the potential to address the underlying cause of the disease. […] Current treatment options for Wilson Disease involve the often complicated and lifetime use of medications, said Valentina Medici, vice chair for research in internal medicine and principal investigator for the trial. Additionally, these treatments just control the disease and do not cure it. Finding a treatment that could address the underlying cause would tremendously improve the quality of life for patients suffering from the disease.

• #63 Gene Therapy Among the New Possible Treatments for Wilson’s Disease, a Rare Liver Disease

  https://www.managedhealthcareexecutive.com/view/gene-therapy-among-the-new-possible-treatments-for-wilson-s-disease-a-rare-liver-disease

  Tetrathiomolybdate is copper-specific chelator with a high affinity for copper, but its development has been discontinued. […] Repurposed older therapies and an experimental new one aim to restore or improve ATP7B transport function, say Roberts and Schilsky. […] Therapy that targets cellular pathways involved in the response to copper injury is another strategy that is under investigation, say Roberts and Schilsky. […] Using viral vectors that target the liver, such as lentiviruses, makes sense, but Roberts and Schilsky note that the experience with lentiviral gene delivery is limited. […] Two early-phase studies using adeno-associated virus vectors for Wilsons disease are underway, they say. […] Gene repair, as opposed gene replacement, is another possibility discussed by Roberts and Schilsky.

• #64 Wilson Disease

  https://patienteducation.asgct.org/disease-treatments/wilson-disease

  Gene therapy aims to be a one-time treatment that delivers a working ATP7B gene into cells to produce working transporter proteins. The goal is to restore proper liver function and remove excess copper. […] There is an active gene therapy clinical trial for Wilson disease, while other research is still in preclinical studies. […] For some, the effects of Wilson disease can be prevented or treated by lifelong medical treatments, that are often given daily to lower copper in the body to nontoxic levels. However, these available treatments are not effective for everyone, so some may consider gene therapy as an option. […] Participating in a trial may offer many potential benefits compared to not receiving any form of intervention for a fatal disease. Gene therapy aims to be a one-time treatment with lasting positive effects to slow or stop disease progression for a lifetime, but again there is no guarantee. […] At this time, we do not know if or when gene therapies will be approved by the FDA and commercially available for people living with Wilson disease. The overall process may take several more years, until it is deemed safe and effective by the FDA.

• #65 Advances in Treatment of Wilson Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.435

• #66 Advances in Treatment of Wilson Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.435

• #67 Advances in Treatment of Wilson Disease | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.435

• #68 Frontiers | Case report: Treatment of Wilson’s disease by human amniotic fluid administration

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1297457/full

  Case report: Treatment of Wilson’s disease by human amniotic fluid administration […] The effectiveness of stem cell therapy in treating WD has yet to be verified, although a few animal studies have shown that stem cell transplantation could partially correct the abnormal metabolic phenotype of WD. […] We treated the patient with pre-cultured human amniotic fluid containing stem cells. […] The neuropsychiatric symptoms gradually improved after the stem cell treatment. […] Amniotic fluid administration, through which stem cells were infused, significantly improves the clinical outcomes in the WD patient, and the finding may provide a novel approach for managing WD effectively. […] The available treatments of WD primarily include chelation of copper or blockage of copper absorption.

• #69 Frontiers | Case report: Treatment of Wilson’s disease by human amniotic fluid administration

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1297457/full

  Despite significant improvement in WD management, the current WD therapies still have limitations. […] Therefore, novel treatment strategies need to be developed for managing WD. […] Stem cell therapy is proving to be a promising approach for the treatment of degenerative diseases. […] However, the effectiveness of stem cell therapy in a WD patient has yet to be verified. […] We administered AFSCs to the patient. The therapy resulted in a significant improvement in clinical outcomes. […] The treatment with amniotic fluid resulted in significant clinical outcomes. […] The findings suggest that amniotic fluid stem cells may differentiate into functional cells that can synthesize ceruloplasmin in vivo and thus improve copper metabolism. […] Amniotic fluid administration may provide a new approach to managing WD effectively.

• #70 Wilson’s Disease – Liver Foundation

  https://liver.org.au/your-liver/liver-diseases/wilsons-disease/

  There are good treatments available that mean someone with Wilson’s disease can lead a normal, healthy life. […] If you have Wilson’s disease, you will need to take certain medications your whole life. These are to remove copper from the body, stop your intestines from absorbing copper, and help your body to get rid of the copper. […] Often several different specialists will be involved in your care, depending on what problems you have from Wilson’s disease. These might include an ophthalmologist (for the eyes), gastroenterologist or hepatologist (for the liver), haematologist (for the blood), neurologist (for the brain) or psychiatrist (for mental health). […] Some of the other problems caused by Wilson’s disease can be treated, such as medicines to prevent stiff muscles and joints and to help with any mental health problems.

• #71 Considerations for Effectively Managing Wilson Disease, with Michael Schilsky, MD

  https://www.hcplive.com/view/considerations-effectively-managing-wilson-disease-michael-schilsky-md

  Wilson disease is highly treatable with long-standing established therapies. […] Specifically, he highlights the role of chelating agents, such as trientine and penicillamine, which accelerate copper excretion, and zinc salts, which reduce intestinal copper absorption. […] For patients who are already presenting with symptoms, Schilsky says the goal is to stop these symptoms from progressing and hopefully cause them to regress and improve over time. […] For those who are diagnosed at an early stage and have not yet developed symptoms, he says with appropriate treatment, these patients may be able to avoid symptoms altogether. […] Schilsky emphasizes that the management of Wilson disease extends beyond copper removal, calling attention to the need for ongoing monitoring, dietary modifications, and addressing complications of liver disease such as portal hypertension and hepatocellular carcinoma risk.

• #72 Wilson disease | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/wilson-disease

  Wilson disease is fatal without medical treatment. […] There is no cure, but the condition can be managed. […] Treatment options include medications, chelation therapy and avoiding foods high in copper. […] The aims of treatment are to reduce the amount of copper in the body and control the symptoms. Treatment must be lifelong. […] Options may include: vitamin B6 to bolster the nervous system, potassium supplements, taken before eating, to reduce the absorption of dietary copper, zinc therapy to prevent the absorption of copper in the small intestine, switching to a diet low in copper, chelation therapy, which is the use of medications (such as penicillamine) that bind to copper and allow it to be excreted in the urine, regular blood and urine tests to check copper levels so that treatment can be adjusted if necessary, liver transplant in severe cases, genetic counselling and testing for the family. […] Management of Wilson disease is lifelong. It is important to switch to a low copper diet.

• #73 Treatment – Wilson Disease Association

  https://wilsondisease.org/medical-professionals/treatment/

  Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. […] Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine and Depen) and trientine (Syprine and Trientine Dihydrochloride) Both of these drugs act by chelation or binding of copper, causing its increased urinary excretion. […] Zinc acetate is approved for treating Wilson disease under the brand names (Galzin) in the U.S. and (Wilzin) in Europe. Zinc acts by inducing metallothionein and blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc is used primarily for maintenance treatment and to treat asymptomatic patients and may also be used in conjunction with chelators. Its effectiveness has been shown by more than 40 years of considerable experience in the USA and Europe. A major advantage of zinc therapy is its lack of side effects.

• #74 Treatment – Wilson Disease Association

  https://wilsondisease.org/living-with-wilson-disease/treatment/

  Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Treatment for Wilson disease is a lifelong process. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage. […] Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine and Depen), trientine dihydrocholoride (Syprine) and trientine tetrahydrochoride (Cuvrior). These drugs act by chelation or binding of copper, causing its increased urinary excretion. […] Zinc acetate is approved for treating Wilson disease under the brand names (Galzin) in the U.S. and (Wilzin) in Europe. Zinc acts by inducing metallothionein and blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc is used primarily for maintenance treatment and to treat asymptomatic patients and may also be used in conjunction with chelators. Its effectiveness has been shown by more than 40 years of considerable experience in the USA and Europe. A major advantage of zinc therapy is its lack of side effects.

• #75 Persistence with treatment for Wilson disease: a retrospective study | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1502-4

  Wilson disease (WD) is genetically induced failure of copper metabolism which can be successfully treated with pharmacological agents. The prognosis for survival in most WD patients is favorable if diagnosis and anti-copper treatment are provided early. […] Therapy is based on products that promote urinary excretion of copper (D-penicillamine and trientine) or prevent its absorption via the gastrointestinal tract (zinc salts). […] Unfortunately, in some patients, the disease is relentlessly progressive even despite of treatment. […] The persistence rate with WD treatment, among analyzed patients, was 74.1%. Treatment persistence had a significantly positive impact on clinical outcome. In patients classified as persistent, positive outcomes were observed more frequently: improvement (29.4%) and lack of progression of disease (68.3%) vs. those who made breaks in drug intake (2.3%; and 45.5%, respectively).

• #76 Wilson Disease: Facts, Causes & Treatment

  https://liverfoundation.org/liver-diseases/rare-disease/wilsons-disease/

  Wilson Disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion. Patients will also need to take vitamin B6 and follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. If detected early and treated properly, a person with Wilson disease can enjoy completely normal health. […] Patients with acute liver failure due to Wilson Disease should be considered for liver transplantation. Liver transplantation effectively cures this disease, with a long-term survival rate of about 80%.

• #77 Wilson Disease

  https://patienteducation.asgct.org/disease-treatments/wilson-disease

  Gene therapy aims to be a one-time treatment that delivers a working ATP7B gene into cells to produce working transporter proteins. The goal is to restore proper liver function and remove excess copper. […] There is an active gene therapy clinical trial for Wilson disease, while other research is still in preclinical studies. […] For some, the effects of Wilson disease can be prevented or treated by lifelong medical treatments, that are often given daily to lower copper in the body to nontoxic levels. However, these available treatments are not effective for everyone, so some may consider gene therapy as an option. […] Participating in a trial may offer many potential benefits compared to not receiving any form of intervention for a fatal disease. Gene therapy aims to be a one-time treatment with lasting positive effects to slow or stop disease progression for a lifetime, but again there is no guarantee. […] At this time, we do not know if or when gene therapies will be approved by the FDA and commercially available for people living with Wilson disease. The overall process may take several more years, until it is deemed safe and effective by the FDA.

• #78 Wilson’s disease at a glance – Vivet Therapeutics

  https://www.vivet-therapeutics.com/pipeline/wilsons-disease-at-a-glance/

  A low-copper diet is recommended mostly at the time of treatment initiation: foods with very high Cu content (shellfish, nuts, chocolate, mushrooms, and organ meats) should be avoided. […] Acute or end stage liver failure generally requires liver transplantation. The literature suggests that depending on the countries and centers, between 5 to 13% of WD patients are liver transplanted. Today, liver transplantation remains the only curative option for Wilson disease, but it is associated with immunosuppression for life and significant morbidity. […] Correction by gene therapy of the defective ATP7B transporter function may ultimately bring a cure to patients with Wilson disease. […] The goal of gene therapy is to overcome the main limitations of current management by restoring physiological copper metabolism, providing long-lasting benefits with a single intravenous vector administration, alleviating the need for multiple daily administration of current treatments and their associated side effects and therefore optimizing adherence to treatment, preventing disease complications (neurological deterioration, psychiatric manifestations and progressive liver diseases) and outweighing significant current therapy costs.

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