Materiały źródłowe

• #1 Huntington’s Disease | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/dementia/types/huntingtons-disease.html

  Huntington’s disease is a genetic disease, you can’t do anything to prevent it if you have inherited it. […] If you have a history of Huntington’s disease in your family, you may wish to have genetic counseling before having children of your own.

• #2 Huntington’s Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14369-huntingtons-disease

  Can Huntingtons disease be prevented? […] Theres no known way to prevent or reduce your risk of Huntingtons disease. If youre planning on expanding your family, talk to a genetic counselor about genetic testing to understand your chances of having a child with a genetic condition. Its possible to do in vitro fertilization (IVF) with genetic testing to make sure you dont pass Huntingtons disease on to your future children.

• #3 Huntington’s Disease: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/neuro/parkinsons-disease-movement-disorders/huntingtons-disease

  There is no way to prevent Huntingtons disease if you have inherited the gene mutation. However, if your family has Huntingtons disease, you can undergo genetic counseling and testing to see if you have the mutation. […] For family planning, pregenetic diagnostic testing can be performed with in vitro fertilization to ensure that any implanted fertilized eggs do not contain the abnormal gene. […] The choice to undergo genetic testing is a highly personal one. Our Huntingtons disease testing team includes a genetic counselor, neurologists, psychiatrists, and other mental health specialists, a social worker, and a medical geneticist who can help you with this decision and, if you choose to test, explain the implications of your results.

• #4 Huntington’s Disease

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

  Huntingtons disease (HD) is a genetic disorder caused by a gene variant or mutation in a person’s huntingtin gene. […] The disease currently has no cure, but there are approved treatments and interventions that can help to manage HD symptoms. […] While there are treatments to help manage the disease symptoms, there are currently no cures or disease modifying treatment options for Huntingtons Disease, but gene therapy is being investigated in clinical trials and preclinical studies. […] Gene therapy aims to be a one-time treatment with lasting positive effects that slow or stop disease progression for a lifetime. However, there is no guarantee. If gene therapy is received earlier in the course of disease, it has the potential to stop damage before it occurs. […] Genetic testing could identify whether a person has the Huntingtons gene to help during family planning.

• #5 Experts explain the future of Huntington’s disease treatment

  https://www.medicalnewstoday.com/articles/future-of-huntingtons-disease-treatment

  Currently, there are no treatments available for Huntingtons disease that change the course of the disease. […] The three main pillars of management include lifestyle changes, pharmacologic management, and rehabilitation services, such as physical, occupational, and speech therapy, said Emily Forbes, DO, director of the Huntingtons Disease Society of American (HDSA) Center of Excellence at the University of Colorado. […] As Younes explained, current treatment options target the effects of Huntingtons disease that impact well-being, including motor (movement) symptoms, mental health concerns, cognitive health concerns, and physical symptoms. Current treatment does not target the underlying causes of disease. […] Forbes and Younes suggested that as research into different treatment options progresses, there will be an opportunity to help relieve symptoms caused by Huntingtons disease rather than just manage them.

• #6 Huntington’s disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117

  People with a known family history of Huntington’s disease may be concerned about whether they may pass the Huntington gene on to their children. They might consider genetic testing and family planning options. […] If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor explains the potential risks of a positive test result, which may mean that the parent may develop the disease. Also, couples may need to make additional choices about whether to have children or to consider alternatives. They may decide to choose prenatal testing for the gene or in vitro fertilization with donor sperm or eggs. […] Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father’s sperm in a laboratory. The embryos are tested for the presence of the Huntington gene. Only those testing negative for the Huntington gene are implanted in the mother’s uterus.

• #7 Huntington Disease – Neurologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/huntington-disease

  Huntington disease is an autosomal dominant disorder characterized by chorea, neuropsychiatric symptoms, and progressive cognitive deterioration, usually beginning during middle age. […] First-degree relatives should be offered genetic counseling before genetic tests are done. […] People who have first-degree relatives with Huntington disease, particularly women of childbearing age and men considering having children, should be offered genetic counseling and genetic testing. Genetic counseling should be offered before genetic testing because the ramifications of Huntington disease are so profound. […] Offer counseling before genetic testing to first-degree relatives, particularly potential parent to prepare them for possible positive findings and to reduce the risk of suicide.

• #8 Huntington’s Disease Association – Starting a family

  https://www.hda.org.uk/information-and-support/getting-help/starting-a-family/

  If you have Huntingtons or know you are at risk of it and would like to have children now or in future, you may wonder what your options are. In particular, because Huntingtons is a genetic disease, you are likely to be concerned about the possibility of passing on the faulty gene to your children. […] Seek pre-implantation genetic testing (PGT-M) which is a type of IVF. […] After conceiving naturally, you can undergo a test to see if the embryo is affected. […] A way to still experience pregnancy and childbirth and the child being half genetically related to you as a couple. […] You can conceive naturally and accept the risk of a child inheriting the gene. […] A more lengthy process but very rewarding for families. […] PGT-M (formally known as pre-implantation genetic diagnosis – PGD) is a kind of IVF; a procedure where a woman usually takes drugs to enhance egg production, and then the eggs are removed from her ovaries and fertilised with sperm to create embryos in a laboratory.

• #9 Huntington’s Disease Association – Starting a family

  https://www.hda.org.uk/information-and-support/getting-help/starting-a-family/

  The NHS Commissioning Board will pay for three cycles of pre-implantation genetic testing (PGT-M) for couples who have a proven genetic disorder and who wish to avoid the birth of an affected child, in accordance with the criteria outlined in Clinical Commissioning Policy: Pre-implantation Genetic Diagnosis, April 2013. […] Prenatal diagnosis is where the person conceives naturally, and, if successful, undergoes a test called prenatal diagnosis (PND), to find out if the developing embryo is affected. […] Another way you could conceive a child is through donated eggs, sperm or embryo. […] Depending on the treatment you need, you may well be looking at assisted conception via IVF, so again, this is not an easy option but it is a way of avoiding the risk of Huntingtons disease. […] Thousands of people in the UK and across the world adopt children of all ages and this is also an option that could be open to you.

• #10 Huntington’s disease: diagnosis, treatment, and support | University of Iowa Health Care

  https://uihc.org/services/huntingtons-disease

  UI Health Care offers complete care for Huntingtons disease, with services ranging from genetic testing and physical therapy to psychiatry and clinical trials. […] If you or your family members are looking for experts to answer your questions and address your concerns, consider University of Iowa Health Care. […] This designation confirms our approach to Huntingtons disease, which includes: […] Opportunities to take part in clinical trials and other types of research […] Early access to new treatments […] Genetic testing and counseling services […] Support services for you and any family members involved in your care. […] You can also enroll in Huntingtons disease clinical trials. These scientific studies let you try promising new treatments before theyre widely available. […] Choosing whether to have a genetic test is a personal decision. If youre considering it, our genetic counselors will help you understand what type of information the test provides and how it might guide your treatment decisions. This will help you make an informed decision about whether genetic testing is right for you. […] We are recognized by the Huntingtons Disease Society of America as a Center of Excellence for Huntingtons Disease. This designation is only given to medical centers that offer team-based care, access to clinical trials, and support services.

• #11 Medical IDs for Huntington’s Disease | MedicAlert Foundation

  https://www.medicalert.org/medical-conditions/huntingtons-disease/?srsltid=AfmBOoqs3SyQVjR8p4CLHdQ9bduZJnvrgCdiq9Mi59skPYEMU5vwpyzI

  One major step is to wear a MedicAlert medical ID for Huntingtons disease. […] Pair a medical ID for Huntingtons disease with the protection plan thats right for you. […] Help others help you. Wear a medical alert ID bracelet or necklace engraved with important information for emergency responders and healthcare providers. […] MedicAlert offers free custom engraving on all our medical ID products. Engravings on medical IDs for Raynauds syndrome should include any critical medical information that can protect and save lives in an accident or medical emergency, for example: Huntingtons disease. […] Add a MedicAlert protection plan to your MedicAlert ID and you will have an added layer of protection in emergencies and other medical situations. If you are living with Huntingtons disease, a MedicAlert protection plan can help ensure fast and accurate treatment by delivering detailed information about your condition, current treatments, and medications to emergency responders, ER doctors, and other emergency medical staff.

• #12 Huntington’s disease: Symptoms, causes, and treatment

  https://www.medicalnewstoday.com/articles/159552

  Huntingtons disease may have a significant impact on the lives of an individual and their loved ones. […] Although there is currently no cure, researchers have been looking for ways to use gene therapy to cure, slow, or prevent HD. […] In 2017, scientists from Emory University suggested that some CRISPR-Cas9 techniques may help prevent HD in the future. […] Additional studies have shown that a similar approach may be successful on a cellular level, but more research is needed to determine how doctors can apply this to treat people with HD.

• #13 HDBuzz – Huntington’s disease research news.

  https://hdbuzz.net/

  Heart health has been linked to lower levels of NfL, a key biomarker of brain cell damage in Huntingtons disease. This suggests heart-healthy habits – like exercise and diet – may have an effect on protecting the brain keeping NfL in check. […] A new study shows that lowering MSH3, a key DNA repair protein, with antisense oligonucleotide (ASO) therapy can stop CAG repeat expansions in HD patient-derived brain cells. This could be a promising way to slow symptom onset and progression. […] New research suggests the adult brain can be convinced to grow new neurons to replace those lost in Huntingtons disease. The SUPER exciting part? These cells dont just growthey seem to connect and function, like puzzle pieces clicking into place.

• #14 New Huntington’s Treatment Prevents Protein Aggregation in Mice – News Center

  https://news.feinberg.northwestern.edu/2024/11/07/new-huntingtons-treatment-prevents-protein-aggregation-in-mice/

  Patients with Huntingtons disease have a genetic mutation that triggers proteins to misfold and clump together in the brain. […] The new treatment leverages peptide-brush polymers, which act as a shield to prevent proteins from binding to one another. […] Although the treatment needs further testing, the investigators imagine it potentially someday could be administered as a once-weekly injection to delay disease onset or reduce symptoms in patients with the genetic mutation. […] Weve developed a polymer that can fight those interactions. […] The new structure has a polymer backbone with peptides attached like branches. Not only does the structure protect the peptides from destructive enzymes, it also helps them cross the blood-brain barrier and enter cells. […] The polymers stayed in the body 2,000 times longer than traditional peptides. […] The study was supported by the International Institute of Nanotechnology Convergence Science Medicine Institute grant, National Institutes of Health (award numbers 1F31AG076334, R01AG065240, R01NS115903, R01AG076051 and RF1AG074346.)

• #15 Novartis licenses innovative treatment for Huntington’s disease – Drug Target Review

  https://www.drugtargetreview.com/news/154613/novartis-licenses-innovative-treatment-for-huntingtons-disease/

  Novartis has partnered with PTC Therapeutics to develop and commercialise PTC518, a promising small molecule therapy targeting the root cause of Huntingtons disease. […] PTC518’s mechanism of action targeting the underlying molecular drivers of the disease represents a potential paradigm shift. […] If PTC518 proves successful in later-stage trials, it could become the first approved therapy to modify the course of Huntingtons disease. […] If successful, PTC518 could set a new standard in the treatment of Huntingtons disease and inspire similar breakthroughs for other neurodegenerative disorders.

• #16 Steps to a Cure – UC Davis Huntington’s Disease Center of Excellence

  https://health.ucdavis.edu/huntingtons/steps-to-a-cure.html

  Our plan is to conduct human clinical trials that deliver stem cells to replace damaged brain cells, reducing levels of harmful proteins that build up in the brains of Huntingtons disease patients. […] Drug therapy for Huntingtons disease is still in its infancy, said Vicki Wheelock, associate professor of neurology who directs the UC Davis Movement Disorders Clinic, a recognized center of excellence for the disease. […] Stem cell therapy offers the potential for a cure, not only for patients with Huntingtons disease but for those with other debilitating conditions, from Alzheimers disease and diabetes to osteoarthritis and spinal cord injury. […] With the Heyn family and many others like them firmly in mind, UC Davis physicians and scientists are moving forward with a sense of urgency.

• #17 Steps to a Cure – UC Davis Huntington’s Disease Center of Excellence

  https://health.ucdavis.edu/huntingtons/steps-to-a-cure.html

  Our plan is to conduct human clinical trials that deliver stem cells to replace damaged brain cells, reducing levels of harmful proteins that build up in the brains of Huntingtons disease patients, said Jan Nolta, director of the UC Davis Stem Cell Program. These families are an incredible inspiration for researchers, and it is wonderful to do work that offers them hope.

• #18 Preparing for Prevention of Huntington’s Disease (PREVENT-HD) | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT04818060/preparing-for-prevention-of-huntingtons-disease-prevent-hd

  This is a prospective investigation which aims to address key challenges to the design of clinical trials to prevent the onset of Huntington’s disease (HD). […] Answers to these questions will better position the field to more effectively test new interventions to prevent HD such as gene therapies and new drugs. […] The evidence threshold is immediately useful to the design of disease modifying trials in HD, particularly when the paramount goal is to prevent diagnosis, or manifestation.

• #19 Huntington disease prevention trial shows creatine safe, slows progression | ScienceDaily

  https://www.sciencedaily.com/releases/2014/02/140208080705.htm

  The first clinical trial of a drug intended to delay the onset of symptoms of Huntington disease reveals that high-dose treatment with the nutritional supplement creatine was safe and well tolerated by most participants. […] In addition, neuroimaging showed a treatment-associated slowing of regional brain atrophy, evidence that creatine might slow the progression of presymptomatic disease. […] „The results of this trial suggest that the prevention or delay of HD symptoms is feasible, that at-risk individuals can participate in clinical trials — even if they do not want to learn their genetic status — and that useful biomarkers can be developed to help assess therapeutic benefits,” says senior author Steven Hersch, MD, PhD, of MGH-MIND.

• #20 After Decades of Failure, First Disease-Modifying Huntington’s Treatment on the Horizon – BioSpace

  https://www.biospace.com/drug-development/after-decades-of-failure-first-disease-modifying-huntingtons-treatment-on-the-horizon

  In September, Prilenia announced that the European Medicines Agency had accepted its marketing authorization application for pridopidine in Huntingtons disease. Prilenias submission is the first for an investigational drug with the potential to impact Huntingtons measures of clinical disease progression, according to the companys press release. Prilenia expects an opinion from the Committee for Medicinal Products for Human Use in the second half of 2025, according to a company spokesperson. […] When we looked then at those off of anti-dopaminergics, then we got a very different picture, Prilenia CEO Michael Hayden previously told BioSpace. In terms of total functional capacity, this subgroup of patients remained stable for at least a year, and as for motor function and cognition, we saw improvement, he said. That was exciting because no [Huntingtons] drug had ever shown improvement in any of these functions.

• #21 Brain changes in Huntington’s disease decades before diagnosis will guide future prevention trials | UCL News – UCL – University College London

  https://www.ucl.ac.uk/news/2025/jan/brain-changes-huntingtons-disease-decades-diagnosis-will-guide-future-prevention-trials

  Subtle changes in the brain, detectable through advanced imaging, blood and spinal fluid analysis, happen approximately twenty years before a clinical motor diagnosis in people with Huntingtons disease, finds a new study led by UCL researchers. […] These findings pave the way for future preventative clinical trials, offer hope for earlier interventions that could preserve brain function and improve outcomes for individuals at risk of Huntingtons disease. […] The findings suggest that there is a treatment window, potentially decades before symptoms are present, where those at risk of developing Huntingtons disease are functioning normally despite having detectable measures of subtle, early neurodegeneration. Identifying these early markers of disease is essential for future clinical trials in order to determine whether a treatment is having any effect.

• #22 Experts explain the future of Huntington’s disease treatment

  https://www.medicalnewstoday.com/articles/future-of-huntingtons-disease-treatment

  Once a disease-modifying therapy is developed, treatment would ideally be initiated early in the disease course, potentially prior to symptom onset, explained Forbes. The goal is to slow down the course of Huntingtons disease, preferably preventing its progression entirely. […] Younes indicated there might even be an opportunity to proactively start treatment for people who carry the genetic mutation that causes Huntingtons disease. This means doctors could prevent symptoms before they even begin. […] In that case, predictive testing [testing a person before they have any symptoms] would become more common, as those with a family history of Huntingtons disease can know their status and be ready to initiate treatment once early signs of the disease become apparent, or potentially prior to any symptom onset, added Forbes.

• #23 Huntington’s Disease – Focused Ultrasound Foundation

  https://www.fusfoundation.org/diseases-and-conditions/huntingtons-disease/

  Focused ultrasound is a noninvasive, therapeutic technology with the potential to improve the quality of life and decrease the cost of care for patients with Huntington’s disease. This novel technology focuses beams of ultrasound energy precisely and accurately on targets deep in the brain without damaging surrounding normal tissue. […] Focused ultrasound can temporarily open the blood-brain barrier (BBB) to improve the delivery of genes, stem cells, or other neuroprotective and/or neurorestorative drugs that could potentially be important in treating Huntington’s. […] Focused ultrasound treatment for Huntington’s disease is not yet approved by regulatory bodies or covered by medical insurance companies.

• #24 Reddit – The heart of the internet

  https://www.reddit.com/r/Huntingtons/comments/1bwjzw5/early_prevention/

  My granddad died in his late 60s with HD. […] I was wondering if there was anything that I can do now at a young age in order to help reduce any symptoms further down the line? I am aware that a reduction of stress is probably the main one, but I have a high stress job that I do not want to/can not afford leave right now. Is there anything else I can do?

• #25 On the trail of a treatment for Huntington’s Disease – Health e-News

  https://healthenews.mcgill.ca/on-the-trail-of-a-treatment-for-huntingtons-disease/

  Huntingtons Disease is very difficult for affected individuals and their family. […] Currently, health care teams use medication to treat the depression, the psychiatric issues, and decrease the involuntary movements, continues Dr. Pandolfo. But ideally we would correct the genetic defect that causes this debilitating disease. […] Some of the new approaches being investigated try to decrease the expression of the mutated gene so that it makes less of the toxic Huntingtin protein in the hopes that this will slow the progression of the disease. […] Developing an effective therapy would allow us to eventually intervene at this pre-symptomatic stage and delay the onset of disease as long as possible, concludes Dr. Pandolfo.

• #26 Experts explain the future of Huntington’s disease treatment

  https://www.medicalnewstoday.com/articles/future-of-huntingtons-disease-treatment

  Both Forbes and Younes, along with other experts, believe that ongoing research may one day result in a cure for Huntingtons disease. […] Because all cases of Huntingtons disease are caused by the same genetic mutation, there is a very clear therapeutic target, she explained. There are currently various trials underway targeting the cause of Huntingtons disease from numerous different angles. I think the effort and dedication of researchers and those who participate in clinical trials continues to advance our understanding of Huntingtons disease and brings us closer to a cure. […] Although no disease-modifying therapies currently exist to slow or halt the progression of Huntingtons disease, many new types of treatment are under investigation that may offer hope for the future.

• #27 Potential for new Huntington’s treatment sparks optimism for MDsEnvelope icon

  https://huntingtonsdiseasenews.com/news/potential-new-huntingtons-treatment-sparks-optimism-us-mds/

  Neurologists in the U.S. are optimistic about the potential for a new treatment for Huntington’s disease, but emphasize the need for therapies that halt nerve degeneration before symptom onset, according to a report by Spherix Global Insights. […] More than 80% “also expressed frustration with the absence of meaningful treatments to slow cognitive decline, a critical concern,” Spherix stated in a company press release. […] According to the survey, more than 80% of neurologists said that stopping neurodegeneration before the onset of symptoms is a top unmet need in Huntington’s. […] Moreover, an equal proportion of neurologists said they were frustrated with the lack of treatments aimed at slowing cognitive decline.

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