top of page
DNA Strand Representation
DNA Strand Representation

What are Treatment Options?

  • There is currently no approved drugs or disease-modifying therapy that stops or reverses FSHD itself.

  • However, early diagnosis still matters greatly because some complications can be treated or monitored before they cause permanent damage.

Families like ours do not have the luxury of time. We need hope, support, and access to effective treatments NOW!

How You Can Help

Take Action Today
✅ Share Lucas's story with friends, family, schools, community groups, and social media.
✅ Contact your U.S. Senators and Representative and ask them to support funding for rare disease and muscular dystrophy research. (see sample email on Call to Action tab)​

✅ Join FSHD patient registry to help researchers better understand the disease and prepare for future clinical trials.

✅ Support organizations funding FSHD research:

✅ Ask pharmaceutical companies and researchers to include pediatric FSHD patients in future studies whenever it is safe and scientifically appropriate. (find company names on Call to Action tab)
✅ Donate to fund research focused on treatments for children with early-onset FSHD.

The science is advancing, but childhood cannot be paused.
Every day a child waits is a day that can never be given back.

Current Global Trials
that includes Pediatrics (15+)

According to the FSHD Society’s Current Trials and Studies directory, these are notable active studies:

  • Novartis FORTITUDE‑3 – (Currently enrolling) In Phase 3: RNA therapy blocking DUX4; includes pediatric (16+); must be able to walk independently

  • Scholar Rock FORGE – (Currently enrolling) In Phase 2: antibody therapy blocking myostatin; includes pediatric (16+); must be able to walk roughly 32 ft in 5 secs

  • Sarepta SRP‑1001 – (Currently enrolling) In Phase 1/2: RNA therapy that blocks DUX4; Early Phase includes pediatric (16+); moderate FSHD Severity Rating

  • ​​Novartis FORTITUDE- (Enrollment complete) – In Phase 1/2: study of an RNA therapy that blocks DUX4; includes pediatrics (16+); must be able to walk 10 meters

  • RESTEM Restem‑L – (Currently enrolling) In Phase 1: Researchers are studying whether stems cells from Umbilical cord lining can help improve or maintain muscle function; includes pediatrics (15+); must be able to walk independently
     


​

 

Pediatric Cultural Study

  • MOVE Ped Study - The goal is to better understand how the disease progresses in young people and to improve how future pediatric clinical trials are designed. (ages 5-17)

​​

​

 

Does your child have FSHD?  Sign up now for study!! 

Click here to get contact info to get more details.

While researchers around the world are working hard to develop treatments and ultimately a cure for FSHD, most clinical trials focus on adults first. For children like Lucas, that means waiting years for studies to be completed, reviewed, approved, and eventually tested in younger patients. Early-onset FSHD is often more aggressive than adult-onset FSHD and can take away a child's strength and independence during critical years of development.

**Lucas is part of this study.  We contacted Kansas location - Michaela is great!

Call to Action

Early-onset FSHD (infantile FSHD) is a rare and more severe form of facioscapulohumeral muscular dystrophy that begins in childhood, often with facial weakness before age 5 or shoulder and arm weakness before age 10. It accounts for only about 5-10% of FSHD cases.

​

Key Features

  • Progressive muscle wasting disease

  • Faster disease progression than typical FSHD.

  • Early signs may include facial weakness, difficulty smiling or closing the eyes, delayed motor development, and speech or feeding difficulties.

  • Some children develop shoulder blade winging, spinal curvature, hearing loss, or vision problems.

  • Breathing and orthopedic complications can occur, making regular monitoring important.

​

The Science of FSHD*

  • The majority (95%) of cases of FSHD are caused by a genetic deletion on chromosome 4. Early-Onset FSHD is associated with a smaller residual DNA fragment remaining from the deletion.

  • Every person has the DUX4 gene associated with FSHD. Normally, the gene is suppressed, but the chromosome 4 deletion permits DUX4 to be expressed. DUX4 is thought to harm muscle. Other genes may also be involved.

  • If a parent has FSHD, each child has a 50% chance of also having FSHD. However, in 20-30% of cases, FSHD is not inherited but results from a spontaneous mutation. In this sense, we all have a risk of having a child with FSHD.  

What is Early-Onset FSHD?

Medical Information Sources:

​​

Content on this website has been summarized and adapted from publicly available educational resources. Copyright remains with the original authors and organizations.

bottom of page