FINN, living with Duchenne,
and his family
Duchenne is an entirely new journey for most, and it's completely normal to have many questions along the way. Use these questions as a starting point, and come back often as this content evolves and your own needs change.
Only a doctor can accurately diagnose a child with Duchenne muscular dystrophy. If you think your child may have Duchenne, it’s important to see a doctor right away. The doctor may recommend a variety of tests, including blood tests, genetic tests, and sometimes even muscle biopsies, to confirm a diagnosis. In addition to your pediatrician or a local pediatric neurologist, you may also contact:
- The Muscular Dystrophy Association: The MDA has clinics located throughout the country with specialists that diagnose and treat diseases like Duchenne. Learn more about the MDA.
- Parent Project Muscular Dystrophy (PPMD): PPMD’s Certified Duchenne Care Center Program helps centers maintain the highest standards in clinical and subspecialty services and rapidly apply new evidence-based knowledge. They follow standards in clinical care that were established by the US Centers for Disease Control and Prevention’s Care Considerations Working Group. Explore their locations.
A Duchenne muscular dystrophy diagnosis is a lot to absorb and can be emotionally overwhelming. There are a variety of resources to help. In addition to speaking with your child’s doctor about next steps, there are national and local advocacy and parent organizations with a wealth of information. Visit our community resource hub to see just a few.
Finding the right doctor for your needs is critical, and only you can decide who is the right fit for your family. Some places to start are:
- Referrals: Look to others who have experienced what you're going through for recommendations, as they may have suggestions for good resources.
- Ask your pediatrician: Most pediatricians will happily refer you to specialists as needed.
- The Muscular Dystrophy Association: The MDA has clinics located throughout the country with specialists that diagnose and treat diseases like Duchenne. Learn more about the MDA.
- Parent Project Muscular Dystrophy (PPMD): PPMD’s Certified Duchenne Care Center Program helps centers maintain the highest standards in clinical and subspecialty services and rapidly apply new evidence-based knowledge. They follow standards in clinical care that were established by the US Centers for Disease Control and Prevention's Care Considerations Working Group. Explore their locations.
Which doctors and/or specialists you see is a decision that should be made in partnership with your child’s doctor. People with Duchenne often rely on the experience of specialists, including genetic counselors, physical therapists, pulmonologists, cardiologists, orthopedists, and neuromuscular specialists, among others. Your child’s doctor can help you determine which specialists should be seen and when.
The Muscular Dystrophy Association has clinics around the country with specialists that treat diseases like Duchenne muscular dystrophy. Learn more about the MDA. You can also look at the Parent Project Muscular Dystrophy’s Certified Duchenne Care Center Program, which have centers located across the US. Explore their locations.
How often your child visits the doctor depends on their individual needs and stage of disease. Your child's doctor will be able to help you create a care plan and better understand the overall time commitments.
A care plan is an agreement between you and your child’s doctor to help manage the disease on a day-to-day basis. It can be a formal written document or just something recorded in the patient notes of your child’s medical records.
The progression of Duchenne varies from child to child and is based on a variety of factors. Speak with your child’s doctor to better understand what to expect. You can also learn more about the natural progression of Duchenne here.
There are various ways to treat Duchenne, many of which are outlined here. It is always best to talk to your child’s doctor about what treatment may be right for your family.
Choosing to have a genetic test is a personal decision and one that should be made in partnership with your child’s doctor. Genetic testing provides the information needed to understand your child's particular mutation. With this information, you and your child's doctor can determine a path for care, which could include managing the disease utilizing best evidence-based therapies and/or participating in clinical trials for possible treatments. You can learn more about genetic testing here.
Duchenne is caused by a genetic mutation in the dystrophin gene, also called the DMD gene. More than 1800 unique mutations in the DMD gene have been recorded in people with the Duchenne and Becker forms of muscular dystrophy. Each mutation represents a different change in the genetic code. Learn more about the types of mutations here.
You cannot "catch" Duchenne the way you can a contagious disease. Duchenne muscular dystrophy is a genetic disease, meaning it is something you are born with. Anyone can be born with Duchenne, even if there is no family history of the disease.
Not necessarily. Duchenne muscular dystrophy can be passed from mother to child, or it can occur through spontaneous mutation, even if there is no family history. If you have one child with Duchenne, you may want to consider carrier testing and meeting with a genetic counselor to understand how this may affect your family. It is believed that approximately two-thirds of patients with Duchenne inherit the disease and one-third develop a spontaneous mutation.
The decision to conduct a genetic test is a personal one that should be made in partnership with your child's doctor. The landscape of Duchenne is changing with new disease management strategies available and under development. Many of these are based on specific genetic mutations. Knowing your child's mutation can affect decisions on which strategies might be appropriate for your child.
Genetic tests are often used to determine your child's specific genetic mutation. You can request a genetic test through your doctor, or you can contact The Duchenne Registry Coordinators at email@example.com to help locate a genetic counselor. The Decode Duchenne program also offers free genetic testing for qualified applicants.
Knowing your child's specific genetic mutation provides valuable information, including what disease management strategies may be appropriate, as well as whether your child might be eligible for any clinical trials. Speak to your child's doctor or genetic counselor about your child's genetic testing results. Our exon deletion tool may help you prepare for this discussion.
A genetic test for Duchenne typically uses a simple blood test. You can learn more about genetic testing here.
You can request this test through your child's doctor, or you can contact The Duchenne Registry Coordinators at firstname.lastname@example.org to help locate a genetic counselor. The Parent Project Muscular Dystrophy (PPMD) Decode Duchenne program also offers free genetic testing for qualified applicants.
Everyone's insurance is different, so it may or may not be covered. Your doctor or genetic counselor will be able to help you determine the best path forward. You can also contact the The Duchenne Registry Coordinators at email@example.com to help locate a genetic counselor, or visit the Parent Project Muscular Dystrophy (PPMD) Decode Duchenne website, which offers free genetic testing for qualified applicants, to learn more.
There are resources available to help you cover the cost of genetic testing. For example, we have partnered with Parent Project Muscular Dystrophy (PPMD) on Decode Duchenne, a program offering free genetic testing and counseling to people with Duchenne who have been unable to access genetic testing due to financial barriers and who meet certain eligibility requirements. You can also contact The Duchenne Registry Coordinators at firstname.lastname@example.org for assistance.
Gene Therapy in Duchenne
Every gene therapy is different, so each has unique guidelines about who may be eligible for treatment. Two common requirements are confirming a Duchenne diagnosis (verified with a genetic test) and testing for specific antibodies in the blood that may prevent the treatment from working as intended and could also impact safety. These are only 2 of the elements that may be required to determine eligibility for gene therapy—your doctor can provide more information about additional requirements for specific treatments.
No. Viruses are modified in a laboratory to prevent them from multiplying or causing an infection in the body. These modified viruses, called vectors, are designed to deliver the transgene and promoter to the target cells.
Scientists are continuing to follow those who’ve had gene therapy in clinical trials to monitor the progress of their disease over time.
Currently, no. Once someone has gene therapy, their body will respond to the vector used in that therapy. Because the body sees the vector as foreign, the immune system will create specific antibodies to fight it. These antibodies may prevent that vector from doing its job and may cause safety concerns.
Antibody testing is a blood test that shows whether you have antibodies that recognize the vector used in the desired gene therapy. If these specific antibodies are present at high enough levels treatment may not be an option because they may prevent the vector from doing its job, and could cause safety concerns.
Clinical trials thoroughly evaluate gene therapies. Researchers look at safety, or what side effects participants had, for several years after receiving treatment. They also look at whether the therapy is doing what it was designed to do—make the new protein in the right place within the cell. To look inside cells, researchers have to collect a sample. In Duchenne, this is often accomplished with a muscle biopsy. Western blot and immunofluorescence are lab tests researchers use to measure how much of the new protein is being made and where it is in the cells.
Other tests examine whether the treatment is helping to slow or stabilize the disease. In Duchenne, these tests measure muscle function, like the NSAA (North Star Ambulatory Assessment), PUL (Performance of Upper Limb), and timed function tests like the 6-minute walk test. These tests are given several times before and after treatment with gene therapy. Results are compared over time to track whether motor skills got better, stayed the same, or got worse. They’re also compared to results from those who had no treatment to show if and how well the treatment works overall.
Clinical trials provide needed research for the development of new drugs, biological products, and medical devices. They are used to determine whether treatments are safe and effective for use. Being part of a clinical trial brings opportunity, but also possible risks. Learn more about clinical trials here.
Clinical trials look at new ways to treat diseases and are designed to determine if a potential treatment is safe and effective. There are many reasons people choose to participate in a clinical trial, but it is a personal decision and one that should be made in partnership with your child's doctor. Learn more about clinical trials here.
Some clinical trials aim to study a disease to help researchers understand it better. These trials may not involve treatments. Other clinical trials involve testing of an experimental treatment to determine its safety and efficacy. Learn more about clinical trials here.
ClinicalTrials.gov is a central repository for all trials in the United States. From the homepage you can type "Duchenne muscular dystrophy" into the search box and click "search" to see all Duchenne studies. The Duchenne Registry, managed by The Parent Project Muscular Dystrophy (PPMD), often lists recent clinical trial information in the Clinical Trials section of its website. For information about Sarepta trials, please visit our website.
Participating in clinical trials helps to advance the understanding of Duchenne and aid in the development of new treatments for the disease, which ultimately helps other children with Duchenne.
Unfortunately, there is no central database that will alert you to all new Duchenne muscular dystrophy clinical trials. There are, however, a few key places you can go to that have recent information on clinical trials in Duchenne:
- ClinicalTrials.gov The government's central repository for clinical trials. Simply search by "Duchenne muscular dystrophy" and all the related trials will be presented
- DuchenneRegistry.org: This Parent Project Muscular Dystrophy (PPMD) website often lists recent clinical trial information in their clinical trials section
- Pharmaceutical companies: If you know that a specific pharmaceutical company is investigating a treatment for Duchenne, you can always go to their website for more information on ongoing clinical trials. For information about Sarepta trials, please visit our website.
Eligibility requirements are usually different for every clinical trial. Your child's doctor can help you evaluate possible options. Eligibility requirements are also typically listed on ClinicalTrials.gov.
No. You need to actively apply to participate in a clinical trial, which includes a screening process. Even if your child meets the screening requirements, you are not guaranteed participation. Learn more about the clinical trials process here.
Once you and your child’s doctor have identified an appropriate clinical trial, you may contact the study organizers to set up an appointment to determine whether you meet the eligibility criteria. Once your eligibility is confirmed, you will be provided with an informed consent document, which details all of the trial information including:
- How the study will be conducted
- Specific participant requirements
- Risks and benefits of participation
- Study duration
- Cost to you, if any
- Payment to you, if any
- Names and phone numbers of key contacts
This varies based on the trial. Some are very short, while others continue for years to ensure long-term follow-up. The types of outcomes (sometimes called clinical or surrogate endpoints) that the researchers aim to measure will also determine the length of the trial. This information is included in the informed consent document you receive prior to enrolling in a trial. Learn more about clinical trials, including informed consent here.
Each clinical trial experience is different, as is each person's experience in a clinical trial. Learn more about what to expect during a clinical trial here.
No. Clinical trials provide the basis for the development of new drugs, biological products, and medical devices. The safety and the effectiveness of the drug is not fully known at the time of the trial, which is why it's important to study these drugs in specific groups of volunteers. Not all medications are found to be effective and/or safe, and the decision to participate in a clinical trial is a personal one that should be made in partnership with your child's doctor. Learn more about what to expect during clinical trials here.
Some experimental medicines may not work better than current medicines. Also, some medicines may work for some people, but not for others. Learn more about clinical trials here.
In some clinical trials, only certain participants will receive the experimental treatment. Others may get a placebo (a pill or liquid that has no active ingredients, like a sugar pill) but go through the same procedures. Learn more about clinical trials here.
Having this “placebo group” helps researchers study the effects of the experimental treatment compared with the effects due to other factors that are not related to the treatment itself. Usually, participants and researchers will not know who is being treated with a placebo or the drug being studied in the clinical trial. Learn more about clinical trials here.
This depends upon the study. You may have to travel to specific clinics for tests or treatments. If your child passes the screening requirements for a specific trial, you will receive an informed consent document that will include information on how and where the tests and treatments will occur.
You may be asked to provide information about your child’s health and medications or to fill out forms about how your child feels. Learn more about what to expect during clinical trials here.
Typically, the clinical trial investigators will take measures to keep the information that you provide safe and to protect your privacy.
Not all studies compensate participants for their time nor reimburse all costs a patient or family may incur as a result of participating in a trial. For information on a specific trial, you should review the informed consent document created for that particular trial, as well as other information provided to you by clinical trial site or investigator, which will outline the costs, reimbursement, and compensation available for a study.
The data collected during the study will be analyzed to assess how participants responded to the investigational treatment. Reports will then be sent to the FDA to determine appropriate next steps.
Access to study treatment after completion of a clinical trial varies. In some cases, study participants can continue to receive the investigational therapy in an extension of the original study, or in a separate, long-term study. However, this is not always the case. Ask about this when considering whether or not to take part in the study.
This is a type of trial that is conducted by a drug company to monitor a drug’s safety for months and years after a drug has been approved and is on the market. The drug company submits this information to the FDA.
Each trial is different, and the specific eligibility requirements will dictate whether geography is a factor. Most trials require regular treatments, tests, and sometimes hospitalizations, which may be more difficult if you live far away. Your child's doctor or genetic counselor will be able to provide more information on a specific trial and whether it is appropriate for your child.
It can be very frustrating to feel as though there is no trial for your child. You can turn to your child's doctor, who will be able to keep you informed about new trials that may be a good fit.
There is a world of support resources in the Duchenne community, including parent groups, Facebook groups, national and local advocacy organizations, and informational websites. We invite you to visit our community resource hub to explore some of these.
Absolutely! We invite you to visit our community resource hub to explore some of these.
Support resources in the Duchenne community can provide a wealth of information. We invite you to visit our resource hub to explore just a few of these. You can also learn more about Duchenne here.
This is a common concern of many Duchenne parents. There are many resources that can help. We invite you to visit our community resource hub to explore just a few of these.