Materiały źródłowe

• #1 Muscular dystrophy – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/diagnosis-treatment/drc-20375394

  Although there’s no cure for any form of muscular dystrophy, treatment for some forms of the disease can help extend the time a person with the disease can remain mobile and help with heart and lung muscle strength. Trials of new therapies are ongoing. […] Treatment options include medications, physical and occupational therapy, and surgical and other procedures. Ongoing assessments of walking, swallowing, breathing and hand function enable the treatment team to adjust treatments as the disease progresses. […] Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include: […] Surgery might be needed to correct contractures or a spinal curvature that could eventually make breathing more difficult. Heart function may be improved with a pacemaker or other cardiac device.

• #1 Muscular Dystrophy | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy

  Available treatments are aimed at keeping people independent for as long as possible and preventing complications that can arise from muscle weakness, reduced mobility, and heart and breathing difficulties. Treatment may involve a combination of approaches, including physical therapy, drug therapy, and surgery. […] Drug therapy may be prescribed to delay muscle degeneration in muscular dystrophies. There are several drugs approved by the U.S. Food and Drug Administration (FDA) to treat individuals with DMD (given orally or by injection). Steroids, such as prednisone and deflazacort, and immunosuppressive drugs can help slow the rate of muscle deterioration and damage to muscle cells, but some carry side effects that can be especially troubling in children. There are also drugs available to treat the symptoms of MD, including myotonia (muscle spasms and weakness). Breathing symptoms may be treated with antibiotics.

• #1 Medical Management – Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/duchenne-muscular-dystrophy/medical-management

  Range-of-motion exercises, performed on a regular schedule, help delay contractures by keeping tendons from shortening prematurely. It is important that a physical therapist show you how to do range-of-motion exercises correctly. […] A physical therapy program is usually part of the treatment for DMD. Your MDA Care Center physician will refer you to a physical therapist for a thorough evaluation and recommendations. The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures and scoliosis. […] Medications belonging to a group known as corticosteroids are the mainstay of pharmacologic treatment as they have been found to be effective in slowing the course of DMD. Children should be started on these medications before substantial physical decline.

• #1 Muscular Dystrophy Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapy

  https://emedicine.medscape.com/article/1259041-treatment

  The indications for any operative intervention in patients with muscular dystrophy (MD) include making a diagnosis by means of muscle biopsy or prolonging the patient’s function and/or ability to ambulate by specific procedures. Other indicated procedures include tendo Achillis and iliopsoas tenotomies for ease of fit into braces, tibialis posterior tendon transfers or tenotomies for more rigid equinovarus deformities of the foot, and segmental spinal stabilization for rapidly developing scoliosis. […] In patients with MD, some relative contraindications for surgery include obesity, rapidly progressive muscle weakness, poor cardiopulmonary status, and a patient’s lack of motivation for participating in postoperative rehabilitation programs. […] Since Duchenne’s time, multiple drug regimens have been tried in treatment of the muscle weakness. Of all the drugs that have come and gone, the only one with some proven benefit is prednisone.

• #1 Muscular Dystrophy Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapy

  https://emedicine.medscape.com/article/1259041-treatment

  As a result, deflazacort, an oxazoline derivative of prednisolone, has become a newer therapeutic drug of choice. […] Clinical investigations are exploring the possibility of limited courses of steroid bursts and other immunosuppressive drugs, such as azathioprine and cyclosporine. […] Vamorolone is a first-in-class steroidal anti-inflammatory drug that differs from conventional glucocorticoids in its lack of an 11-beta hydroxy-carbonyl group. […] Givinostat is the first nonsteroidal drug approved by the US Food and Drug Administration (FDA) for treatment of Duchenne MD in patients aged 6 years or older with all genetic variants of Duchenne MD. […] An open-label phase 2 dose-escalation study evaluated the safety and efficacy of intravenously administered eteplirsen phosphorodiamidate morpholino oligomer (PMO) in patients with Duchenne MD.

• #1 Medical Management – Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/duchenne-muscular-dystrophy/medical-management

  Chronic use of corticosteroids is part of the standard of care for DMD, but such treatment can lead to side effects such as weight gain, short stature, acne, behavioral changes, osteoporosis, and long bone and vertebral compression fractures. […] In September 2016, the US Food and Drug Administration (FDA) granted accelerated approval of Eteplirsen, an exon skipping drug that has shown to increase dystrophin in patients with a mutation of the dystrophin gene amenable to exon 51 skipping. […] A combination of immobility and weak abdominal muscles can lead to severe constipation, so the diet should be high in fluids and fiber, with fresh fruits and vegetables dominant. Patients with DMD may also develop dysphagia (difficulty with swallowing). When dysphagia is suspected, the patient should be referred to a speech and language therapist for swallowing assessment.

• #1 Approved Treatments for Muscular Dystrophy | Muscular Dystrophy NewsBooks iconSpeech bubble iconEnvelope icon

  https://musculardystrophynews.com/approved-treatments-for-muscular-dystrophy/

  There is no cure for any type of muscular dystrophy (MD), but various medications and therapies can help manage symptoms or slow the progression of the disease. Many therapies are specific to one type of dystrophy. Some of the treatments approved to treat MD are summarized below. […] Histone deacetylase inhibitors are a treatment approach designed to work by blocking an enzyme that turns off gene activity. This may ultimately help by slowing muscle loss and disease progression. […] Duvyzat (givinostat) is an oral therapy approved in the U.S. for adults and children, ages 6 and older, with DMD. It aims to reduce inflammation and muscle loss in people with DMD, ultimately working to slow disease progression. […] Exon skipping is a treatment approach for people whose Duchenne muscular dystrophy is due to certain mutations in its causative gene. Exon skipping works like a molecular patch, so that the DMD gene can produce a shorter version of the dystrophin protein to help protect and maintain the strength of muscle fibers.

• #1 Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/duchenne-muscular-dystrophy

  DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier. […] MDA-supported researchers are actively pursuing several exciting strategies in DMD, such as gene therapy, exon skipping, stop codon read-through and gene repair. […] On Sept. 19, 2016, the U.S. Food and Drug Administration (FDA) granted accelerated approval to eteplirsen (brand name Exondys 51) as the first disease-modifying drug for DMD. […] On Feb. 9, 2017, the FDA approved deflazacort (brand name Emflaza) to treat DMD. […] In December 2019, Vyondys 53, an „exon skipping” drug that targets a section of DNA called exon 53 was approved by the FDA for treatment of individuals who have a confirmed mutation of the DMD gene that is amenable to a therapeutic strategy called exon 53 skipping and may help up to 8% of individuals with DMD.

• #1 Muscular Dystrophy Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapy

  https://emedicine.medscape.com/article/1259041-treatment

  Golodirsen, a second antisense oligonucleotide, was approved by the FDA in December 2019. […] Viltolarsen, another morpholino antisense oligomer, was approved by the FDA in August 2020 for Duchenne MD in patients with genetic mutations that are amenable to exon 53 skipping. […] In February 2021, the FDA granted accelerated approval to casimersen, an antisense oligonucleotide of the PMO subclass. […] Another potential therapy is creatine monohydrate supplementation. […] In June 2023, the first gene therapy, delandistrogene moxeparvovec (Elevidys), gained accelerated approval by the FDA for ambulant Duchenne MD pediatric patients aged 4-5 years with a confirmed mutation in the DMD gene. […] The role of the orthopedic surgeon is to correct the deformities and to help maintain the dystrophic child’s ambulatory status for as long as possible, usually 1-3.5 years.

• #1 Muscular Dystrophy: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/14128-muscular-dystrophy

  Heart care: Early treatment with ACE inhibitors and/or beta-blockers may slow the progression of cardiomyopathy and prevent the onset of heart failure. Pacemakers can also help treat heart rhythm problems and heart failure. […] Speech therapy: This can help people who have difficulty swallowing. […] Respiratory care: Cough-assist devices and respirators can help with breathing. Tracheostomy and assisted ventilation may be necessary in cases of respiratory failure. […] Medications have also been recently developed that may alter the course of certain forms of the disease. Examples include eteplirsen and golodirsen for DMD (Duchenne muscular dystrophy).

• #1

  https://www.nhs.uk/conditions/muscular-dystrophy/treatment/

  There’s currently no cure for muscular dystrophy (MD), but a variety of treatments can help to manage the condition. […] As different types of MD can cause quite specific problems, the treatment you receive will be tailored to your needs. […] New research is investigating possible future treatments. […] In people with Duchenne MD, corticosteroid medicine (steroids) has been shown to improve muscle strength and function for 6 months to 2 years, and slow down the process of muscle weakening. […] Recent research has also shown that a creatine supplement can improve muscle strength in some people with MD, while causing few side effects. […] Depending on the severity of your swallowing problems, there are a number of treatments that can be used. […] If any damage to your heart is detected, you may be referred to a cardiologist (heart specialist) for further tests and possibly more frequent monitoring.

• #1 Approved Treatments for Muscular Dystrophy | Muscular Dystrophy NewsBooks iconSpeech bubble iconEnvelope icon

  https://musculardystrophynews.com/approved-treatments-for-muscular-dystrophy/

  Emflaza (deflazacort) is an oral corticosteroid approved in the U.S. to treat children and adults with DMD, ages 2 and older. […] Gene therapy is a promising treatment option for genetic conditions such as muscular dystrophy. It involves correcting the genetic defect by introducing a normal copy of the affected gene into the patient’s cell or by silencing a faulty gene. […] Elevidys (delandistrogene moxeparvovec-rokl), previously called SRP-9001, is a onetime gene therapy approved to treat certain patients with DMD.

• #1 Muscular Dystrophy

  https://patienteducation.asgct.org/disease-treatments/muscular-dystrophy

  Muscular dystrophy is a group of genetic diseases that cause progressive muscle weakness and loss of muscle mass. […] Learn how gene therapy may target the cause of disease to slow or stop its progression, along with helpful information on clinical trials, and staying informed. […] ELEVIDYS is an FDA-approved gene therapy for the treatment of children aged 4 and older with Duchenne muscular dystrophy (DMD) with a confirmed gene variation or mutation in the DMD gene. […] Gene therapy aims to be a one-time treatment that delivers a working gene into cells to produce working proteins and enzymes such as dystrophin. […] Gene therapy may be able to slow the progression of LGMD. […] Gene therapy introduces a working version of a gene into a cell in charge of creating key proteins or enzymes.

• #1 FDA Approves First Gene Therapy for Treatment of Certain Patients with Duchenne Muscular Dystrophy | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

  Today, the U.S. Food and Drug Administration approved Elevidys, the first gene therapy for the treatment of pediatric patients 4 through 5 years of age with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene who do not have a pre-existing medical reason preventing treatment with this therapy. […] Todays approval addresses an urgent unmet medical need and is an important advancement in the treatment of Duchenne muscular dystrophy, a devastating condition with limited treatment options, that leads to a progressive deterioration of an individuals health over time, said Peter Marks, M.D., Ph.D., director of the FDAs Center for Biologics Evaluation and Research. […] Most current treatment approaches address the symptoms of the disease, but not its underlying genetic cause. Treatments include corticosteroid medications to slow down the progression of muscle weakness, stretching and exercise programs, and use of equipment such as braces or a wheelchair as walking becomes more difficult.

• #1 FDA Approves First Gene Therapy for Treatment of Certain Patients with Duchenne Muscular Dystrophy | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

  Elevidys is a recombinant gene therapy designed to deliver into the body a gene that leads to production of Elevidys micro-dystrophin, a shortened protein (138 kDa, compared to the 427 kDa dystrophin protein of normal muscle cells) that contains selected domains of the dystrophin protein present in normal muscle cells. […] A clinical benefit of Elevidys, including improved motor function, has not been established. As a condition of approval, the FDA is requiring the company to complete a clinical study to confirm the drugs clinical benefit. The required study is designed to assess whether Elevidys improves physical function and mobility in ambulatory DMD patients with a confirmed mutation in the DMD gene.

• #1 A Promising Gene Therapy for Older Children with Duchenne Muscular Dystrophy – InventUMPage 1arrow–buttonPage 1arrow–buttonPage 1arrow–buttonPage 1arrow–buttonPage 1arrow–button

  https://news.med.miami.edu/a-promising-gene-therapy-for-older-children-with-duchenne-muscular-dystrophy/

  A new gene therapy, ELEVIDYS, has been approved to treat older Duchenne muscular dystrophy (DMD) patients. […] The therapy delivers a functional micro-gene to muscle cells, potentially arresting DMD progression and, in some cases, possibly reversing it. […] Clinical trials have shown the drug can improve motor function, particularly in younger children. […] „The worst-case scenario is that some patients do not regain any function,” said Dr. Lopez-Alberola. „However, we may slow the disease’s progression. That alone would be transformational.” […] Dr. Lopez-Alberola hopes the FDA will continue to extend the age envelope for ELEVIDYS. […] „Right now, we can’t treat until patients become symptomatic,” he said. „By then, some muscle has already been irreversibly lost. It would be much better if we could circumvent the natural history of the disease and prevent that from happening.” […] A few weeks out from the infusion, Scott is hopeful this groundbreaking therapy will help her children stave off, and possibly even roll back, the disease.

• #1 As FDA Expands Approval of a New Gene Therapy to Treat Duchenne Muscular Dystrophy, a CHLA Expert Weighs in | Children’s Hospital Los Angeles

  https://www.chla.org/blog/research-and-breakthroughs/fda-expands-approval-new-gene-therapy-treat-duchenne-muscular

  Dr. Ramos-Platt makes clear that Elevidys is not a cure for muscular dystrophy. I’ve generally told my patients that even with this gene transfer therapy, they still have muscular dystrophy. […] But Elevidys micro-dystrophin may significantly slow disease progression, making a major difference for patients. […] A significant number of individuals may be able to benefit from the treatment. We have many patients whose lives may be changed, and I am so happy for them.

• #1 New gene therapy approach shows promise for Duchenne muscular dystrophy

  https://medicine.iu.edu/news/2024/07/muscular-dystrophy-gene-therapy-nature-publication

  „We optimized and tested our new three-vector system to make sure it produced and assembled the full-length dystrophin protein effectively,” Han said. „Our data confirmed we successfully restored full-length dystrophin in both the skeletal and heart muscles of mice with DMD, leading to significant improvements in their muscle health, strength and function.” […] „I believe this new gene therapy approach offers significant advantages to patients compared to what they currently have available, and I’m eager to get it into further clinical development,” he said.

• #1 Developing an mRNA therapy for Duchenne muscular dystrophy

  https://www.drugtargetreview.com/article/145291/developing-an-mrna-therapy-for-duchenne-muscular-dystrophy/

  Bobcat mRNATM is a proprietary linear mRNA technology designed for the highly efficient and cost-effective production of high-quality mRNA encoding large proteins (over 13 kb). It is delivered via a lipid nanoparticle (LNP). Elixirgen Therapeutics is first exploring the use of Bobcat mRNATM with dystrophin, the largest known human gene. Dystrophin is mutated in Duchenne muscular dystrophy (DMD), a rare disease that causes progressive muscle weakness and atrophy. […] There are a few approved therapies for DMD including four exon-skipping drugs and one AAV-microdystrophin drug, which uses a shortened version of dystrophin. It has been shown in the literature that using the full-length dystrophin protein would potentially exhibit a longer half-life in muscle. This may lead to a more robust restoration of muscle function.

• #1 UC Davis Health to develop in-utero therapy for Duchenne muscular dystrophy

  https://health.ucdavis.edu/news/headlines/uc-davis-health-to-develop-in-utero-therapy-for-duchenne-muscular-dystrophy-/2023/02

  UC Davis Professor Aijun Wang and his team are collaborating with Murthy laboratory at UC Berkeley to develop a much-needed cure for Duchenne muscular dystrophy (DMD). They are designing a therapy to treat DMD before birth by editing the gene that encodes dystrophin, a key protein in stabilizing muscle fiber. […] The hope is to treat DMD before birth by editing the genes that encode, or cause the production of, dystrophin. The plan is to edit these genes in the heart, diaphragm and limb muscles in utero and correct the DMD mutations before the onset of the disease. […] Cure DMD will be delivered via an in-utero injection to the fetus diagnosed with DMD. It will use a non-viral delivery method known as lipid nanoparticle to transfect, or introduce, cells using mRNA. This transfection causes the temporary expression of an enzyme that does the gene editing.

• #1 Therapy for Muscular Dystrophy | NYU Langone Health

  https://nyulangone.org/conditions/muscular-dystrophy/treatments/therapy-for-muscular-dystrophy

  Physical therapy and occupational therapy both of which help with the activities of daily living are recommended for people with all types of muscular dystrophy. Specialists at NYU Langones Rusk Rehabilitation provide personalized physical and occupational therapy for adults and children with this condition. […] Your doctor may recommend exercises that can help to strengthen and stretch muscles affected by muscular dystrophy. These exercises are designed to prevent contractures, a stiffening of the muscles near a joint that limits movement in the affected part of the body. […] A physical therapist can help you keep your muscles and joints as flexible as possible by creating a muscle strengthening and stretching routine tailored to your symptoms. […] Regular aerobic exercise can help to improve self-esteem, wellbeing, and quality of life among people with muscular dystrophy.

• #1 Rehabilitation & Physical Therapy – Parent Project Muscular Dystrophy

  https://www.parentprojectmd.org/care/care-guidelines/by-area/physical-therapy-and-stretching/

  Physical therapy is different in Duchenne than in other situations. In other diagnoses, PT can help increase range of motion, strength, and function; in Duchenne, the goal of therapy is to preserve range of motion (the flexibility of a joint), strength, and function. […] Your physical therapist should work closely with your neuromuscular specialist, physical medicine rehabilitation (PMR) physicians, occupational therapists, speech-language pathologists, or any other providers who make up your rehabilitation team. This team will focus on your individual goals and lifestyle and provide appropriate care. […] You should have a thorough physical therapy evaluation (strength, function and range of motion of the hips, knees, ankles, shoulders, elbows and wrists) at least every 4-6 months. These measurements should be tracked longitudinally so that indications of muscle weakness or joint tightness are found, and treated, early.

• #1 Rehabilitation & Physical Therapy – Parent Project Muscular Dystrophy

  https://www.parentprojectmd.org/care/care-guidelines/by-area/physical-therapy-and-stretching/

  Working to prevent contractures proactively (before they occur) is always best. Contractures are not always preventable. If they do occur, there are ways to manage contractures and maximize the function of the joint. […] Stretching should be a part of your daily routine and should be guided by your physical therapist. Regular stretching of joints including the shoulder, elbow, wrist, ankle, knee, and hip should begin early and continue through adulthood. […] Bracing helps to keep the joints in alignment and maintain flexibility and function of the joint by providing a long (maintained) stretch. […] Serial casting refers to a process of applying a series of rigid casts (typically plaster) over an individuals joint (most often used for heel cords at the ankle). […] As mobility devices become necessary, these, too, will need to be evaluated by your physical therapy team.

• #1 Physical Therapy for Muscular Dystrophy | Med Diagnostics Rehab

  https://www.meddiagnosticrehab.co/physical-therapy-for-muscular-dystrophy.php

  A physical therapy program may include: Passive stretching to increase joint flexibility and prevent contractures, Range of motion exercises to increase muscle strength, Exercises to prevent muscle atrophy, Deep breathing exercises to keep the lungs fully expanded, Electrical muscle stimulation. […] A physical therapist may also work with patients through certain exercises and positions to correct their posture. This type of therapy is used to counter the muscle weakness, contractures, and spinal irregularities that may force individuals with MD into uncomfortable positions. Assistive devices may also be used for support and to distribute weight evenly, and help the spine and legs to straighten. Physical therapists may also assist patients with using other assistive devices such as wheelchairs, splints and braces, and other orthopedic devices to help maintain mobility.

• #1 What are the treatments for muscular dystrophy (MD)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/treatment

  Currently available treatments for MD can help manage and reduce the severity of symptoms. […] Ongoing research on treatments, including some gene-based approaches, also show promise for slowing or even reversing some symptoms of certain types of MD. […] MD treatments may include the following. […] Beginning physical therapy early can help keep muscles flexible and strong. […] A combination of physical activity and stretching exercises may be recommended for people with MD. […] Shortly after MD is diagnosed, specialists can suggest treatments to prevent or delay respiratory problems. […] MD patients who experience weakness in the facial and throat muscles may benefit from speech therapy to teach them how to maximize their muscle strength. […] Occupational therapy can help patients with MD relearn lost motor skills and learn ways to work around weakened muscles.

• #1 Therapy for Muscular Dystrophy | NYU Langone Health

  https://nyulangone.org/conditions/muscular-dystrophy/treatments/therapy-for-muscular-dystrophy

  The physical therapists at Rusk Rehabilitation can work with you or your child to develop an exercise plan that is designed to address your needs and based on the type of muscular dystrophy. […] Many adults and children with muscular dystrophy also work with an occupational therapist. These therapists can help you continue performing activities of daily living, such as feeding, grooming, dressing, writing, and workplace tasks, as your physical abilities change due to the symptoms of muscular dystrophy. […] Occupational therapists at NYU Langone can help you relearn movements and abilities that involve muscles that have been weakened by muscular dystrophy. […] Adults and children with muscular dystrophy often benefit from long-term physical and occupational therapy. […] When muscular dystrophy progresses, our therapists offer care that supports your independence, so that you can perform everyday tasks on your own for as long as possible.

• #1 Muscular Dystrophy | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy

  Physical therapy can help improve movement and keep a persons muscles as flexible and strong as possible. Passive stretching can also support join flexibility and prevent contractures. […] Occupational therapy can help people with MD perform everyday tasks at home and at work. […] Speech therapy can help people with weakened facial and throat muscles communicate. […] Regular, moderate exercise and/or physical activity can help people with MD maintain muscle function and mobility. […] Deep breathing and coughing exercises can help people with MD who are having breathing problems. […] Support aids such as wheelchairs, splints, braces, spinal supports, and posture correction devises can counter muscle weakness and help people with MD maintain mobility. […] Corrective surgery can ease complications from MD, including tendon or muscle release surgery for contractures, pacemakers for heart problems, surgery to reduce scoliosis-related pain or postural imbalance, and cataract surgery for eye problems. […] Assisted ventilation is often needed to treat respiratory muscle weakness that accompanies many forms of MD, especially in the later stages.

• #1 Muscular Dystrophy: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/14128-muscular-dystrophy

  There currently isnt a cure for muscular dystrophy, though researchers are actively looking for one. […] The main goal of treatment is to manage symptoms and improve your quality of life. Treatments can vary depending on the type of muscular dystrophy and may include: […] Physical and occupational therapies: The main goal of these therapies is to strengthen and stretch your muscles. They can help you maintain movement function. […] Corticosteroids: Corticosteroids, such as prednisolone and deflazacort, may be beneficial for delaying muscle weakness, improving lung function, delaying scoliosis, slowing the progression of cardiomyopathy and prolonging survival. […] Mobility aids: Devices such as canes, braces, walkers and wheelchairs can improve your mobility and help prevent falls. […] Surgery: People with muscular dystrophy may need surgery to relieve tension in contracted muscles or to correct spine curvature (scoliosis).

• #1 Muscular Dystrophy Diagnosis & Treatment

  https://www.webmd.com/children/understanding-muscular-dystrophy-treatment

  Symptoms often can be relieved through exercise, physical therapy, rehabilitative devices, respiratory care, and surgery: […] Exercise and physical therapy can minimize abnormal or painful positioning of the joints and may prevent or delay curvature of the spine. […] Canes, powered wheelchairs, and other rehabilitative devices can help those with MD maintain mobility and independence. […] Surgery can sometimes relieve muscle shortening. […] In some cases, disease progression can be slowed or symptoms relieved with medication: […] In Duchenne muscular dystrophy, corticosteroids may slow muscle destruction. […] The oral corticosteroid deflazacort (Emflaza) was approved in 2017 to treat DMD. […] Deflazacort has been found to help patients retain muscle strength as well as helping them maintain their ability to walk. […] In myotonic muscular dystrophy, phenytoin and mexiletine (Mexitil) can treat delayed muscle relaxation. […] Medications also can be prescribed for some muscular dystrophy-related heart problems.

• #1 How Physical Therapy Is Used for Duchenne Muscular Dystrophy

  https://www.healthline.com/health/duchenne-muscular-dystrophy-physical-therapy

  Regular exercise can help boost overall health and maintain muscle strength for as long as possible. […] Stretching can help prevent contractures in people with DMD. […] A physical therapist may also recommend orthotics. These have several benefits, including supporting weakened muscles and boosting mobility. […] If you receive a diagnosis of DMD, you’ll need physical therapy throughout your lifetime. […] Physical therapy is an important component of DMD treatment. It can have several benefits including maintaining muscle strength and function, helping with mobility, and preventing complications like contractures. […] While physical therapy is beneficial, it doesn’t stop the progression of DMD.

• #1 Muscular Dystrophy in MI | Memorial Healthcare

  https://memorialhealthcare.org/service/muscular-dystrophy-treatment-in-michigan/

  Respiratory care: For patients with more advanced muscular dystrophy, respirators can help regulate breathing. […] Surgery: Some muscular dystrophy patients benefit from surgery to correct scoliosis. […] Patients may also be encouraged to implement lifestyle changes, such as quitting smoking, which can help support healthy heart and lung function.

• #1

  https://www.nhs.uk/conditions/muscular-dystrophy/treatment/

  In some severe cases of MD, surgery may be necessary to correct physical problems that can occur as a result of the condition. […] New ideas for muscular dystrophy treatments are currently being developed. […] Trials are now in progress in the UK and the Netherlands to see if „exon skipping” may be a useful way of treating Duchenne MD. […] Some research is currently focusing on whether stem cells can be turned into muscle cells and used to regenerate damaged muscle tissue.

• #1 Muscular Dystrophy Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapy

  https://emedicine.medscape.com/article/1259041-treatment

  The goal for patients with MD is continued mobility despite the use of a cast to prevent rapid loss of strength and bone mineral density. […] The surgical approaches to contractures in dystrophic patients, especially those with Duchenne MD, can be summarized into the following three broad categories: Ambulatory, Rehabilitative, Palliative. […] Advances in pulmonary care and cardiac drugs may negate the absolute need for scoliosis surgery in Duchenne MD, allowing patients to live into adulthood. […] The technique of choice for scoliosis when the curve measures 20 or more in patients who are nonambulatory is a posterior spinal fusion from T2 to the sacrum. […] Preoperatively, patients should undergo a detailed cardiac assessment, a pulmonary evaluation with pulmonary function tests, and a hematologic workup. […] Therapeutic options include calcium and vitamin D supplementation, vibration therapy, and bisphosphonates.

• #1 Muscular Dystrophy | MD | MedlinePlus

  https://medlineplus.gov/musculardystrophy.html

  There is no cure for muscular dystrophy. Treatment can help with the symptoms and prevent complications. It usually includes a combination of therapies, such as: […] Physical therapy to help keep muscles flexible and strong […] Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles […] Respiratory care, such as breathing exercises, oxygen therapy, and ventilators […] Speech therapy to help with speech and swallowing problems […] Assistive devices, such as wheelchairs, splints and braces, and walkers […] Medicines to help delay damage to muscles or minimize the symptoms of MD […] Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts.

• #1 Duchenne Muscular Dystrophy: Treatment and Care Essentials

  https://mytomorrows.com/blog/patients/living-with-duchenne-muscular-dystrophy-treatment-and-care-essentials/

  While there is no cure for this disease, Duchenne Muscular Dystrophy treatments are available to help manage symptoms and improve quality of life. The treatment for Duchenne Muscular Dystrophy may include: Steroid drugs, such as glucocorticoids, are often started when a child is diagnosed or when muscle strength begins to decline. These drugs can slow down the loss of muscle strength as they reduce the rate of muscle cell death. Gentle exercise, such as swimming and water exercises, can help maintain muscle strength and keep the cardiovascular system healthy. However, it is important to first discuss with a doctor what exercises to perform and how much is appropriate, as too much exercise can cause muscle damage. Physical therapy and orthopedic care can also play an important role in preventing tightening of muscles and joints (contractures) that can limit movement. Treatments may include gentle stretching exercises, using long leg braces to help with walking or wearing a plastic ankle-foot brace while sleeping. Surgery to release contractures may be required for those who have advanced symptoms of the disease. In young men with Duchenne Muscular Dystrophy, the spine can gradually curve, which can interfere with sitting, sleeping, and even breathing. Physical therapy can help keep the back as straight as possible, and surgery may be necessary in some cases to correct severe curvature. No special diet is typically required for people with Duchenne Muscular Dystrophy. However, excessive weight gain can become a problem for people who use power wheelchairs, take certain medications, or are not very active. For these people, calorie intake may be restricted to keep a healthy weight. Regular heart check-ups are essential for people with Duchenne Muscular Dystrophy, starting from an early age and continuing throughout life. As Duchenne Muscular Dystrophy progresses, breathing muscles weaken. It’s important to keep the airways clear, using devices or manual techniques to assist with coughing. In later stages, assisted ventilation may be required to ensure enough air gets into the lungs. Children with Duchenne Muscular Dystrophy who are experiencing learning difficulties can be evaluated by a developmental or pediatric neuropsychologist. Duchenne Muscular Dystrophy can be associated with increased rates of autism spectrum disorders, attention deficit hyperactivity disorder, anxiety, and depression, which may also require adequate medical management. In recent years, there has been significant progress in genetic therapies for Duchenne Muscular Dystrophy, which aim to correct the underlying genetic cause of the disease. Each of the therapies are designed to target a specific type of mutation. Consequently, they only work for a small subset of patients who possess that mutation. In Duchenne Muscular Dystrophy, gene delivery involves inserting a healthy gene into muscle cells to replace a faulty one. Elevidys (delandistrogene moxeparvovec-rokl), is the first and only approved gene therapy for patients with Duchenne Muscular Dystrophy. It uses a harmless virus (Adeno-Associated Virus, AAV), to deliver a gene that creates micro-dystrophin, a shortened but functional version of the dystrophin protein. Early clinical trial data suggest that boys treated taking Elevidys tend to have an improved motor function than expected without treatment. As of 30th August 2024, Elevidys was approved in the U.S. by the Food and Drug Administration (FDA) for children aged 4 or 5 who can walk and have a confirmed dystrophin mutation. Its also approved for those who cannot walk under an accelerated approval pathway, which requires additional clinical testing to confirm its benefits (this investigation is ongoing). Other gene therapies are currently under investigation. Exons are parts of our DNA that carry the instructions for making different sections of a protein, similar to the pieces of a puzzle. When these exons come together, they create a complete and functional protein, with each exon adding a piece to the puzzle. In Duchenne Muscular Dystrophy, some of these pieces are missing. Without these missing parts, the other pieces cannot fit well together, leading to the formation of a faulty dystrophin protein that does not work correctly. The general concept behind exon-skipping therapy for Duchenne is to remove some new pieces to help the remaining ones fit better together. This results in the formation of a shortened version of the dystrophin protein that can still work, though not perfectly. As for 30th August 2024, four exon-skipping therapies are approved by the FDA for Duchenne in the U.S.: Amondys 45 (casimersen), Exondys 51(eteplirsen), Viltepso (viltolarsen) and Vyondys 53 (golodirsen). These therapies treat Duchenne Muscular Dystrophy caused by specific mutations. Importantly, these therapies were approved under the accelerated pathway, with several clinical trials ongoing to collect more data on their potential benefits. There are, additionally, other investigational therapies that are being researched in the laboratory: In some cases, Duchenne Muscular Dystrophy is caused by a nonsense mutation, which creates a stop signal in the gene, prematurely ending the production of dystrophin, resulting in a non-functional protein. Nonsense mutation readthrough therapy involves using a small molecule that allows the cell to ignore this stop signal, allowing it to produce a full-length dystrophin protein. This approach is currently being investigated and is not available for people in the US. Gene editing involves recognizing a specific DNA sequence and modifying it. Although there are different methods of gene editing, the CRISPR-Cas system has been increasingly studied in recent years. The CRISPR-Cas system uses a template to find a specific piece of DNA in a cell and then removes, replaces or inserts a piece of DNA at this location. This technique is currently being investigated in the laboratory and is not available for human use. Duchenne Muscular Dystrophy (DMD) is a serious condition that affects the muscles, causing them to become weaker and deteriorate over time. While there is no cure, various treatments can help manage symptoms and improve the quality of life. These Duchenne Muscular Dystrophy treatment plans may include physical exercise, orthopedic interventions, assistive devices, heart monitoring, or respiratory care. In recent years, significant progress has been made in genetic therapies for Duchenne Muscular Dystrophy. Elevidys is the first approved gene therapy in the U.S. for Duchenne Muscular Dystrophy. Exon skipping therapies, such as Amondys 45, Exondys 51, Viltepso, and Vyondys 53 are also approved in the U.S. These therapies were given accelerated approval by the FDA, and further studies are ongoing to confirm their benefits. Other treatments are in clinical trial phase, and other therapies, like gene editing, are still in the research phase and aren’t available for people.

• #1 Dystrophinopathies Treatment & Management: Medical Care, Pharmacologic Treatments, Gene Therapy

  https://emedicine.medscape.com/article/1173204-treatment

  Corticosteroids have been shown to have favorable effects on cardiac function in Duchenne muscular dystrophy. […] Vamorolone is a first-in-class steroidal anti-inflammatory drug that differs from conventional glucocorticoids in its lack of an 11-beta hydroxy-carbonyl group. […] Oxandrolone (Anavar or Bonavar) is an anabolic steroid first approved for use in Europe and FDA approved in the United States in 2006; it has been used in DMD and may have a more favorable side effect profile including less excess weight gain. […] Studies have shown that afterload reduction with ACE inhibitors in patients with and without ventricular dysfunction leads to better preservation of the myocardium and improvement in ventricular function and geometry. […] Future therapeutic options may be promising. P188 (Poloxamer 188) is a nonionic triblock copolymer that inserts into artificial lipid monolayers and thus repairs damaged biological membranes.

• #1 Experimental treatments for muscular dystrophy | Muscular Dystrophy NewsBooks iconSpeech bubble iconEnvelope icon

  https://musculardystrophynews.com/experimental-treatments-for-muscular-dystrophy/

  Multiple types of treatments are being developed for different forms of muscular dystrophy. […] Ataluren is designed to treat only patients who have Duchenne muscular dystrophy caused by a particular type of defect in the DMD gene called a nonsense mutation. […] BB-301 is being developed as a potential treatment for oculopharyngeal muscular dystrophy. […] BBP-418 is an experimental small molecule therapy designed to improve motor function in people with limb-girdle muscular dystrophy (LGMD) type 2i. […] CAP-1002 is an investigational cell therapy designed to improve muscle strength and heart health in people with Duchenne muscular dystrophy (DMD). […] Losmapimod is an oral treatment to slow or prevent damage to muscles of patients with facioscapulohumeral muscular dystrophy. […] Prednisone is an oral corticosteroid that’s not formally approved for people with DMD, but is commonly used off-label in these patients to ease inflammation and preserve muscle strength and function. […] Rimeropide is an experimental oral therapy to reduce muscle damage in people with Duchenne muscular dystrophy.

• #1 A new approach to treating Duchenne muscular dystrophy | Drug Discovery News

  https://www.drugdiscoverynews.com/a-new-approach-to-treating-duchenne-muscular-dystrophy-16286

  A groundbreaking approach targets muscle stem cells to restore regeneration in Duchenne muscular dystrophy, offering new hope beyond traditional dystrophin-focused therapies. […] Satellos has invented SAT-3247 as a first-of-its-kind, orally administered small molecule drug designed to restore skeletal muscle regeneration in degenerative or injury conditions by correcting muscle stem cell polarity. […] SAT-3247 is currently in clinical development as a potential disease-modifying treatment initially for DMD. […] Instead of attempting to genetically restore dystrophin, which does not restore regeneration, we sought a method to restore asymmetric cell divisions to promote muscle regeneration. This led to the development of SAT-3247, a first-in-class small molecule drug that inhibits adaptor-associated protein kinase 1.

• #1 Duchenne Muscular Dystrophy Treatment | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/duchenne-muscular-dystrophy/treatment.html

  We take a comprehensive approach to caring for children with Duchenne muscular dystrophy. Each child’s symptoms and treatment needs are unique, and we tailor our care plan to address your child’s specific situation. […] Treatment of DMD may include: […] Physical therapy for muscle weakness […] Respiratory therapy for breathing issues […] Occupational therapy for swallowing difficulties […] Behavioral therapy to address cognitive function […] Diet and nutrition counseling for patients with difficulty chewing or swallowing […] Stanford investigators are participating in studies to increase their understanding of genes that may cause Duchenne muscular dystrophy and to investigate new treatment approaches for DMD. […] Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment.

• #1 Muscular Dystrophy

  https://patienteducation.asgct.org/disease-treatments/muscular-dystrophy

  Gene therapy for different types of MD are being investigated in clinic trials and preclinical studies. […] Gene therapy can be an alteration for the lifetime, so people should be aware that there could be long term effects (both good and bad) that are not known at this time. […] 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 that slow or stop disease progression for a lifetime. […] At this time, we do not know if or when more gene therapies will be approved by the FDA and commercially available for people living with muscular dystrophies.

• #1 Medical Management – Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/duchenne-muscular-dystrophy/medical-management

  Thanks to advances in many areas of medicine, such as cardiology and pulmonology, people with Duchenne muscular dystrophy (DMD) in the 21st century are living longer than in previous decades, often well into adulthood. DMD treatment requires multidisciplinary care to coordinate the multiple specialized assessments and interventions needed to maximize function and quality of life for patients. […] The use of available treatments can help to maintain comfort and function and prolong life. MDA Care Center physicians can help create individualized care plans regarding all medical and assistive aspects DMD patients require. […] Treatment with angiotensin converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARB) and beta blockers can slow the course of cardiac muscle deterioration in DMD if the medications are started as soon as abnormalities on an echocardiogram (ultrasound imaging of the heart) appear but before symptoms occur.

• #1 Rehabilitation & Physical Therapy – Parent Project Muscular Dystrophy

  https://www.parentprojectmd.org/care/care-guidelines/by-area/physical-therapy-and-stretching/

  Rehabilitation teams should include physicians, physical and occupational therapists, speech language pathologists, orthotists and providers of durable medical equipment. This team works to collaborate with the other subspecialty members of the Duchenne care team (i.e., neuromuscular specialist, cardiologist, pulmonologist, endocrinologists, etc.). […] Physical therapy (PT) will be an important part of life from the time of the Duchenne diagnosis. It is important that you have specialized physical therapy evaluations every 4-6 months. This way, any and all changes can be tracked overtime and needs can be addressed quickly. […] Physical therapists play an important role in: Minimizing contractures by introducing regular stretching into your daily routine, Maintaining function and adapting to any loss of function, Monitoring function over time through standard tests and measures, Assessing for and managing compromised skin integrity, Preventing and managing pain, Prescribing exercise and supervising safe physical activity (i.e. low load, low resistance exercise), Recommending mobility devices, adaptive seating, and other equipment, Rehabilitation after injury or fracture.

• #1 Duchenne Muscular Dystrophy: Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/children/duchenne-muscular-dystrophy

  Eteplirsen (Exondys 51) is approved to treat people with a specific mutation of the gene that leads to DMD. It is an injection medication. Its most common side effects are balance problems and vomiting. Although the drug increases dystrophin production, which would predict improvement in muscle function, this has not yet been shown. […] The first gene therapy to be approved for DMD, delandistrogene moxeparvovec (Elevidys), is only prescribed to people with a confirmed mutation in the DMD gene. it delivers a protein to muscles in the skeleton, heart, and lungs that partly compensates for the missing dystrophin. You take it as a single-dose IV infusion at a treatment center. […] Because DMD can cause heart problems, it’s important for your child to see a heart doctor, called a cardiologist, for checkups once every two years until age 10 and once a year after that.

• #1 New gene therapy for muscular dystrophy offers hope | Department of Medicine News

  https://mednews.uw.edu/news/gene-therapy/muscular-dystrophy

  A new gene therapy treatment for Duchenne muscular dystrophy (DMD) shows promise of not only arresting the decline of the muscles of those affected by this inherited genetic disease, but perhaps, in the future, repairing those muscles. […] Currently, there is no cure for the disease and available treatments and drugs only slow down the disease. […] In the lab, this method has not only halted further progression of the disease, but it has been able to reverse much of the pathology associated with dystrophy. Eventually, Chamberlain and Tasfaout hope that this method might lead to a reversal of the muscle wasting and restore normal health of the muscle tissue. […] The latest approach also uses a new type of AAV vector that allows the use of lower doses. Many side effects of previous approaches might be reduced or eliminated with smaller doses, Chamberlain said.

• #2

  https://www.nhs.uk/conditions/muscular-dystrophy/treatment/

  There’s currently no cure for muscular dystrophy (MD), but a variety of treatments can help to manage the condition. […] As different types of MD can cause quite specific problems, the treatment you receive will be tailored to your needs. […] New research is investigating possible future treatments. […] In people with Duchenne MD, corticosteroid medicine (steroids) has been shown to improve muscle strength and function for 6 months to 2 years, and slow down the process of muscle weakening. […] Recent research has also shown that a creatine supplement can improve muscle strength in some people with MD, while causing few side effects. […] Depending on the severity of your swallowing problems, there are a number of treatments that can be used. […] If any damage to your heart is detected, you may be referred to a cardiologist (heart specialist) for further tests and possibly more frequent monitoring.

• #2 Duchenne and Becker muscular dystrophy: Management and prognosis – UpToDate

  https://www.uptodate.com/contents/duchenne-and-becker-muscular-dystrophy-management-and-prognosis

  Duchenne and Becker muscular dystrophy: Management and prognosis […] The management and prognosis of Duchenne and Becker muscular dystrophy will be discussed in this review. […] GLUCOCORTICOID AND DISEASE-MODIFYING TREATMENT […] Glucocorticoids are the mainstay of pharmacologic treatment for DMD because of their beneficial effects for improving motor function and pulmonary function, reducing the risk of scoliosis, delaying the loss of ambulation, and possibly for delaying progression of cardiomyopathy and improving survival. […] Novel disease-modifying therapies offer the potential to ameliorate the genetic basis of these disorders by increasing the production of functional dystrophin.

• #2 Muscular Dystrophy: Options for Complication Management

  https://www.uspharmacist.com/article/muscular-dystrophy-options-for-complication-management

  To date, there is no definitive cure for any of the MDs. Treatment revolves largely around managing and/or preventing disease complications to improve muscle strength, survival, and quality of life. […] Clinical trials for MD are usually performed in patients with DMD, as it is the most common form. Sample sizes, however, remain small owing to the prevalence of the disease. The most robust data for use of pharmacologic agents in MD involve glucocorticoid therapy. […] Prospective, randomized, placebo-controlled trials in DMD patients found that after 6 months of glucocorticoid treatment, patients displayed increased muscle strength, slower progression of weakness, reduced risk of scoliosis, and increased pulmonary function. […] The optimal dosage in these trials is prednisone 0.75 mg/kg/day, with a maximum dosage of 30 to 40 mg daily. Current guidelines recommend the initiation of glucocorticoids in all patients with DMD once motor function plateaus, with the goal of prolonging ambulation before the decline of motor function.

• #2 Duchenne Muscular Dystrophy (DMD) | Treatment | UK Healthcare

  https://ukhealthcare.uky.edu/kentucky-neuroscience-institute/conditions/child-neurology/duchenne-muscular-dystrophy/treatment

  No cure currently exists for Duchenne muscular dystrophy. However, treatments can help improve muscle function. […] The most promising type of treatment is a new gene therapy called Elevidys (delandistrogene moxeparvovec), which the FDA approved in June 2023. […] Elevidys treatment can lead to injury of the liver, so patients will have liver function monitored weekly for the first three months. […] The most frequently used treatment to date for DMD is steroid treatment. […] Typically, doctors discuss steroids during the early stages of diagnosis. […] Prednisone: This is the most commonly used medication for the treatment of DMD. […] Emflaza (deflazacort): This corticosteroid, which is available as a tablet or liquid and taken by mouth, is for kids ages 2 and older. […] Agamree (vamorolone): This liquid medication is taken by mouth once daily by children ages 2 and older. […] During exon-skipping therapy, a medication given through a vein creates patches to skip over the damaged exons. This allows the body to produce more dystrophin protein. […] While exon-skipping therapy doesn’t cure DMD, it may help.

• #2 Dystrophinopathies Treatment & Management: Medical Care, Pharmacologic Treatments, Gene Therapy

  https://emedicine.medscape.com/article/1173204-treatment

  Corticosteroids have demonstrated a modest benefit in modifying the course of the disease. Clinical improvement is seen as early as 1 month after starting treatment and can last as long as 3 years. […] In retrospective and prospective studies, corticosteroids (prednisone and deflazacort) have been found to be favorably associated with 2-3 years more of independent ambulation, reduced or delayed need for scoliosis surgery, reduced or stabilized ventricular dysfunction, and improved respiratory function. […] Unfortunately, chronic daily use of corticosteroids can cause weight gain, cataracts, osteoporosis, hypertension, diabetes, delayed puberty, stunted vertical growth, and behavioral/sleep issues. […] A recent clinical trial of early alternate-day dosing of corticosteroids with a 14-year follow-up showed that initiation of corticosteroids (age 2-4 y) in 5 Duchenne muscular dystrophy patients preserved ambulation in 4 patients, 3 of whom retained the ability to climb stairs.

• #2 Duchenne Muscular Dystrophy: Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/children/duchenne-muscular-dystrophy

  Eteplirsen (Exondys 51) is approved to treat people with a specific mutation of the gene that leads to DMD. It is an injection medication. Its most common side effects are balance problems and vomiting. Although the drug increases dystrophin production, which would predict improvement in muscle function, this has not yet been shown. […] The first gene therapy to be approved for DMD, delandistrogene moxeparvovec (Elevidys), is only prescribed to people with a confirmed mutation in the DMD gene. it delivers a protein to muscles in the skeleton, heart, and lungs that partly compensates for the missing dystrophin. You take it as a single-dose IV infusion at a treatment center. […] Because DMD can cause heart problems, it’s important for your child to see a heart doctor, called a cardiologist, for checkups once every two years until age 10 and once a year after that.

• #2 Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/duchenne-muscular-dystrophy

  DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier. […] MDA-supported researchers are actively pursuing several exciting strategies in DMD, such as gene therapy, exon skipping, stop codon read-through and gene repair. […] On Sept. 19, 2016, the U.S. Food and Drug Administration (FDA) granted accelerated approval to eteplirsen (brand name Exondys 51) as the first disease-modifying drug for DMD. […] On Feb. 9, 2017, the FDA approved deflazacort (brand name Emflaza) to treat DMD. […] In December 2019, Vyondys 53, an „exon skipping” drug that targets a section of DNA called exon 53 was approved by the FDA for treatment of individuals who have a confirmed mutation of the DMD gene that is amenable to a therapeutic strategy called exon 53 skipping and may help up to 8% of individuals with DMD.

• #2 Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/duchenne-muscular-dystrophy

  In August 2020, Viltepso, an „exon skipping” drug that targets a section of DNA called exon 53. was approved by the FDA for treatment of individuals who have a confirmed mutation of the DMD gene that is amenable to a therapeutic strategy called exon 53 skipping and may help up to 8% of individuals with DMD.

• #2 Approved Treatments for Muscular Dystrophy | Muscular Dystrophy NewsBooks iconSpeech bubble iconEnvelope icon

  https://musculardystrophynews.com/approved-treatments-for-muscular-dystrophy/

  Amondys 45 (casimersen) is a treatment for DMD patients with mutations amenable to exon 45 skipping. […] Exondys 51 (eteplirsen or AVI-4658) is the first treatment approved by the FDA for a specific group of patients with DMD. […] Viltepso (viltolarsen) is an approved therapy to treat DMD resulting from mutations amenable to exon 53 skipping. […] Vyondys 53 (golodirsen) is an exon-skipping therapy conditionally approved in the U.S. to treat people with DMD whose mutations are amenable to exon 53 skipping. […] Patients with MD are often prescribed corticosteroids, also called glucocorticoids, which may preserve muscle tissue by reducing both inflammation and immune system attacks on those tissues. […] Agamree is a new type of corticosteroid called a dissociative corticosteroid that is intended to maximize the benefits of corticosteroids while minimizing their side effects.

• #2 FDA Approves Nonsteroidal Treatment for Duchenne Muscular Dystrophy | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-nonsteroidal-treatment-duchenne-muscular-dystrophy

  Today, the U.S. Food and Drug Administration approved Duvyzat (givinostat) oral medication for the treatment of Duchenne Muscular Dystrophy (DMD) in patients six years of age and older. Duvyzat is the first nonsteroidal drug approved to treat patients with all genetic variants of DMD. […] This approval provides another treatment option to help reduce the burden of this progressive, devastating disease for individuals impacted by DMD regardless of genetic mutation. […] Duvyzat’s efficacy for the treatment of DMD was evaluated in a randomized, double-blind, placebo-controlled 18-month phase 3 study. […] Patients treated with Duvyzat showed statistically significant less decline in the time it took to climb four stairs compared to placebo. […] A secondary efficacy endpoint was the change from baseline to month 18 in physical function as assessed by the North Star Ambulatory Assessment (NSAA) a scale commonly used to rate the motor function in boys with DMD who are capable of walking. Compared to placebo, patients treated with Duvyzat saw less worsening in their NSAA score after 18 months. […] The recommended dosage of Duvyzat is determined by the individual’s body weight. It should be administered orally twice daily with food.

• #2 New Duchenne Muscular Dystrophy treatments 2025 | Everyone.org

  https://everyone.org/explore/treatment/?id=26

  Physical therapy plays a crucial role in managing DMD. […] Cardiac medications, such as ACE inhibitors and beta-blockers, are commonly prescribed to manage cardiac complications associated with DMD, reducing the risk of heart failure and prolonging survival. […] Exon-skipping therapies represent a significant advancement in DMD treatment. […] Several experimental treatments, such as Agamree and gene therapy approaches, are currently under investigation. […] While no cure currently exists for Duchenne Muscular Dystrophy, significant advancements in treatment options have improved patient outcomes and quality of life. […] In the absence of a definitive cure, supportive care remains crucial for individuals living with DMD. […] Ongoing research continues to explore various strategies aimed at finding a definitive cure for DMD.

• #2 Muscular Dystrophy Treatment & Management: Approach Considerations, Medical Therapy, Surgical Therapy

  https://emedicine.medscape.com/article/1259041-treatment

  Golodirsen, a second antisense oligonucleotide, was approved by the FDA in December 2019. […] Viltolarsen, another morpholino antisense oligomer, was approved by the FDA in August 2020 for Duchenne MD in patients with genetic mutations that are amenable to exon 53 skipping. […] In February 2021, the FDA granted accelerated approval to casimersen, an antisense oligonucleotide of the PMO subclass. […] Another potential therapy is creatine monohydrate supplementation. […] In June 2023, the first gene therapy, delandistrogene moxeparvovec (Elevidys), gained accelerated approval by the FDA for ambulant Duchenne MD pediatric patients aged 4-5 years with a confirmed mutation in the DMD gene. […] The role of the orthopedic surgeon is to correct the deformities and to help maintain the dystrophic child’s ambulatory status for as long as possible, usually 1-3.5 years.

• #2 FDA Approves First Gene Therapy for Duchenne Muscular Dystrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/fda-approves-first-gene-therapy-duchenne-muscular-dystrophy

  For decades, doctors and researchers have been working diligently to discover new treatments and provide more options for patients with Duchenne muscular dystrophy (DMD), a debilitating genetic disease that ravages the muscles in the body and leads to a loss of movement and coordination. […] Today, DMD patients have been given new hope. The U.S. Food and Drug Administration (FDA) has approved Elevidys, the first gene therapy for DMD, for patients with the disease between the ages of 4 and 5 years old. This newly approved gene therapy delivers a copy of a gene that encodes a shortened, functional form of dystrophin, the gene that is mutated in DMD patients. Dystrophin is like a shock absorber for muscles, and without it, muscle deteriorates. The shortened microdystrophin in this gene therapy helps improve muscle health and slows muscle wasting.

• #2 How Physical Therapy Is Used for Duchenne Muscular Dystrophy

  https://www.healthline.com/health/duchenne-muscular-dystrophy-physical-therapy

  Doctors use physical therapy to treat Duchenne muscular dystrophy. It can help maintain muscle function, boost quality of life, and prevent complications. A physical therapist will tailor your treatment according to your needs. […] Physical therapy is an important part of managing DMD, as it can help improve movement and flexibility and prevent certain DMD complications. […] Physical therapy benefits people with DMD in several ways. […] A physical therapist can help maintain muscle function by using exercises that target muscle strength and flexibility. […] Working with a physical therapist to maintain flexibility can help reduce the risk of having contractures. […] There are several components to physical therapy for DMD. These components include assessments, exercise, stretches, and orthotics.

• #2 Physical Therapy for Muscular Dystrophy | Med Diagnostics Rehab

  https://www.meddiagnosticrehab.co/physical-therapy-for-muscular-dystrophy.php

  A physical therapy program may include: Passive stretching to increase joint flexibility and prevent contractures, Range of motion exercises to increase muscle strength, Exercises to prevent muscle atrophy, Deep breathing exercises to keep the lungs fully expanded, Electrical muscle stimulation. […] A physical therapist may also work with patients through certain exercises and positions to correct their posture. This type of therapy is used to counter the muscle weakness, contractures, and spinal irregularities that may force individuals with MD into uncomfortable positions. Assistive devices may also be used for support and to distribute weight evenly, and help the spine and legs to straighten. Physical therapists may also assist patients with using other assistive devices such as wheelchairs, splints and braces, and other orthopedic devices to help maintain mobility.

• #2 Rehabilitation & Physical Therapy – Parent Project Muscular Dystrophy

  https://www.parentprojectmd.org/care/care-guidelines/by-area/physical-therapy-and-stretching/

  Physical therapists have an important role in prescribing, monitoring and guiding exercise. Aerobic exercise should be low or no impact, with minimal resistance. […] In addition to daily stretching and night-time bracing, there are a number of smaller items you should remember to incorporate into your daily routine to help preserve flexibility, strength, and function of your skeletal muscles. […] This article details the importance of physical therapy in treating Duchenne.

• #2 UC Davis Health to develop in-utero therapy for Duchenne muscular dystrophy

  https://health.ucdavis.edu/news/headlines/uc-davis-health-to-develop-in-utero-therapy-for-duchenne-muscular-dystrophy-/2023/02

  UC Davis Professor Aijun Wang and his team are collaborating with Murthy laboratory at UC Berkeley to develop a much-needed cure for Duchenne muscular dystrophy (DMD). They are designing a therapy to treat DMD before birth by editing the gene that encodes dystrophin, a key protein in stabilizing muscle fiber. […] The hope is to treat DMD before birth by editing the genes that encode, or cause the production of, dystrophin. The plan is to edit these genes in the heart, diaphragm and limb muscles in utero and correct the DMD mutations before the onset of the disease. […] Cure DMD will be delivered via an in-utero injection to the fetus diagnosed with DMD. It will use a non-viral delivery method known as lipid nanoparticle to transfect, or introduce, cells using mRNA. This transfection causes the temporary expression of an enzyme that does the gene editing.

• #2 Cell Treatment Slows Disease in Muscular Dystrophy Patients

  https://www.cedars-sinai.org/newsroom/cell-treatment-slows-disease-in-duchenne-muscular-dystrophy-patients/

  A cell therapy developed by the executive director of the Smidt Heart Institute stabilizes weakened muscles including the heart muscle in Duchenne muscular dystrophy patients, a new study published in the international peer-reviewed journal The Lancet shows. […] If the HOPE-2 study’s success is duplicated in the upcoming multicenter, randomized, placebo-controlled HOPE-3 clinical trial, the intravenous cell therapy could become the first Food and Drug Administration-approved treatment for Duchenne patients with advanced disease. […] The HOPE-2 trial is a game changer for muscular dystrophy, said Craig M. McDonald, MD, the trial’s principal investigator. For the first time, we have a treatment which markedly slows loss of arm function and preserves heart function in Duchenne patients. […] The therapy studied in this Phase II clinical trial takes a different approach. It uses heart cells called cardiospheres, or CDCs, which are a type of progenitor cells derived from human heart tissue, to improve the function of skeletal muscle and the heart, at least partly by blunting inflammation.

• #2 Duchenne Muscular Dystrophy: Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/children/duchenne-muscular-dystrophy

  Some blood pressure medicines may help protect against muscle damage in the heart. […] Kids with DMD might need surgery to fix shortened muscles, straighten the spine, or treat a heart or lung problem. […] Scientists continue to look for new ways to treat DMD in clinical trials. These trials test new drugs to see if they are safe and if they work. They often are a way for people to try new medicine that isn’t available to everyone. Your doctor can tell you if one of these trials might be a good fit for your child.

• #2 New gene therapy for muscular dystrophy offers hope

  https://medicalxpress.com/news/2024-07-gene-therapy-muscular-dystrophy.html

  A new gene therapy treatment for Duchenne muscular dystrophy shows promise of not only arresting the decline of the muscles of those affected by this inherited genetic disease, but perhaps, in the future, repairing those muscles. […] The UW Medicine-led research focuses on delivering a series of protein packets inside shuttle vectors to replace the defective DMD gene within the muscles. The added genetic code will then start producing dystrophin, the protein lacking in patients with muscular dystrophy. […] Currently, there is no cure for the disease and available treatments and drugs only slow down the disease. […] In the lab, this method has not only halted further progression of the disease, but it has been able to reverse much of the pathology associated with dystrophy. Eventually, Chamberlain and Tasfaout hope that this method might lead to a reversal of the muscle wasting and restore normal health of the muscle tissue. […] The latest approach also uses a new type of AAV vector that allows the use of lower doses and therefore may reduce or eliminate some of the side effects of previous approaches, Chamberlain said.

• #3 Duchenne Muscular Dystrophy: Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/children/duchenne-muscular-dystrophy

  Theres no cure for DMD, but medicines and other therapies can ease your childs symptoms and help protect their muscles, heart, and lungs. […] In 2017, the oral drug deflazacort (Emflaza) became the first corticosteroid approved by the FDA to treat the condition. Deflazacort has been found to help patients retain muscle strength as well as help them maintain their ability to walk. Common side effects include puffiness, increased appetite, and weight gain. […] Steroids such as prednisone curb inflammation and slow muscle damage. Children who take this medicine are able to walk for 2 to 5 years longer than they would without it. The drugs also can help your childs heart and lungs work better. […] A unique type of steroid drug, vamorolone (Agamree), is also available for kids and teens with DMD. It helps reduce inflammation without many of the side effects of other steroids.

• #3 Duchenne Muscular Dystrophy: Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/children/duchenne-muscular-dystrophy

  The FDA has approved a nonsteroidal drug called Duvyzat (givinostat) to treat children and adolescents with DMD. It targets an enzyme involved in muscle growth and regrowth. It’s been shown to slow the progression of DMD and increase mobility. […] For the small number of DMD patients with a gene mutation that can be treated by skipping exon 45 (a certain section of genetic code), doctors can prescribe the injectable drug casimersen (Amondys 45). It was the first targeted treatment for this type of mutation and has been shown to help increase the production of dystrophin. […] A few children with DMD have a mutation that’s amenable to exon 53 skipping. The drugs golodirsen (Vyondys 53) and vitolarsen (Viltepso) have been approved to help increase the amount of dystrophin in the muscle fibers.

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