FSHD Clinical Trial

Study Name: ACH0311: A multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onset facioscapulohumeral muscular dystrophy (FSHD).

Participant Population: Infantile onset facioscapulohumeral muscular dystrophy

Study Overview: This study is being ran by the Cooperative International Neuromuscular Research Group (CINRG). More information about CINRG and CINRG’s research studies can be found at cinrgresearch.org. This study is an observational study that aims to advance our knowledge on infantile onset FSHD.  The study will include 50 participants of all ages who have presented with symptoms of FSHD between birth and 10 years of age. Study participation will involve a single day of assessments at one of the participating CINRG centers (to include physical exam, cognitive testing, eye exam, hearing test, strength testing and speech evaluations). The procedures may be split over additional days for scheduling purposes.

Inclusion Criteria: Clinical diagnosis of FSHD including the presence of all of the following features based on review of medical records and/or direct examination:

  • Onset of symptoms involving the facial or shoulder girdle muscles, and
  • Genetic confirmation (according to the study defined criteria for FSHD)

How to Become involved: For more information about the study and a list of participating CINRG sites please view ClinicalTrials.gov or the CINRG website. You may also contact the Zoë Sund (Project Manager) at 202-476-4110 or to determine if you are eligible and to be referred to a participating CINRG site.


Dr. Jean Mah was named the 2012-2013 Researcher of the Year by Muscular Dystrophy Canada. Listen to Dr. Mah talk about the study’s objectives and participants as well as the passion she has for her work and patients.

Dr. Katie Manders is affected by FSHD, and a MDC board member and is a participant in the study. Katie shares why she participated and why she feels it’s important for others to participate as well.

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