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FINN, living with Duchenne, 
and his family

Common Questions

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.

About Duchenne

I think my child may have Duchenne – how do I know for sure?

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
My child was just diagnosed with Duchenne. What do I do now?

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.

How do I find a good doctor?

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.
Other than my pediatrician, are there specialists we should see?

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.

Are there clinics that specialize in treating Duchenne muscular dystrophy?

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 do I know if my child’s doctor is aware of the latest Duchenne therapies?

You can ask your child’s doctor if they are aware of the latest therapeutic approaches outlined in this website or on Clinicaltrials.gov.

How often do I need to visit the doctor?

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.

What is a care plan and how do I create one?

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. 

What should I expect in the coming years? How quickly does the disease progress?

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

Where can I get information about treatment options?

It is always best to discuss specific treatment options with your child’s doctor.

Genetic Testing

Does my child need a genetic test?

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.

What types of genetic mutations cause Duchenne muscular dystrophy?

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.

Is a mutation inherited? Can anyone get Duchenne?

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.

If I have one child with Duchenne, will all my children have it?

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.

Why is it important that I know my child’s 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.

How do I find out which mutation my child has?

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 coordinator@duchenneregistry.org to help locate a genetic counselor. The Decode Duchenne program also offers free genetic testing for qualified applicants.

If I know my child’s mutation, what do I do with that information?

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.

How is a genetic test done?

A genetic test for Duchenne typically uses a simple blood test. You can learn more about genetic testing here.

Where can I go for a genetic test for my child?

You can request this test through your child's doctor, or you can contact The Duchenne Registry Coordinators at coordinator@duchenneregistry.org to help locate a genetic counselor. The Parent Project Muscular Dystrophy (PPMD) Decode Duchenne program also offers free genetic testing for qualified applicants.

Will my insurance cover genetic testing?

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 coordinator@duchenneregistry.org 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.

My insurance won’t cover genetic testing. What do I do now?

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 coordinator@duchenneregistry.org for assistance.

Clinical Trials

What does it mean to be part of a clinical trial?

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.

Why should I consider enrolling my child in a clinical trial?

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.

What are the different types of clinical trials I might experience?

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.

Where can I find more information on clinical trials for Duchenne muscular dystrophy?

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.

How could my child’s participation in a clinical trial help other children with Duchenne?

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.

How can I get updates when recruiting begins for new trials?

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.
How do I know if my child is eligible for a clinical trial?

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.

If my child is eligible for a clinical trial, are we automatically enrolled?

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.

How do I enroll my child in a clinical trial?

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
How long will the trial last?

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.

What should we expect when taking part in a clinical trial?

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.

Do the trial medicines always work?

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.

Will only some medicines work for my child?

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.

What is a placebo?

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.

Why do some trials include a placebo group?

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.

Do I have to travel to participate in a clinical trial or will doctors/nurses come to me?

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.

What kind of information do I have to provide for the clinical trial?

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.

Will the information I provide be safe?

Typically, the clinical trial investigators will take measures to keep the information that you provide safe and to protect your privacy.

Will I be paid for participating in a clinical trial?

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.

What happens once the trial is over?

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.

Can my child continue getting the drug being studied after the trial is over?

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.

What is postmarketing registry trial?

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.

I live overseas. Can my child still participate in trials in the United States?

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.

What do I do if there is no clinical trial appropriate for my 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.

Support

How can I connect with other parents of children with Duchenne muscular dystrophy?

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.

Are there support groups or networking groups I can join?

Absolutely! We invite you to visit our community resource hub to explore some of these.

Where do I go for more information on Duchenne muscular dystrophy?

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.

I’m worried about the impact on my other children. Where can I go for help?

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.

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