NICHD Muscular Dystrophy (MD) Research Information

By supporting and conducting research, NICHD aims to improve our understanding of MD as a way to develop targeted treatments and therapies to slow or stop muscle degeneration, improve muscle strength and function, and optimize overall health for people with MD.

For example, researchers in NICHD’s Division of Intramural Research (DIR) study MD at the cellular level to determine whether membrane composition can be improved to stabilize muscle cells.

NICHD also funds research on MD and MD therapies through its Division of Extramural Research (DER) and National Center for Medical Rehabilitation Research (NCMRR). Some of this work includes support of the Wellstone MD Specialized Research Centers, using gait simulators to fine-tune medical rehabilitation therapy models, and supporting small businesses in developing technology to improve the health of those with MD, such as materials that reduce pressure sores in people who use wheelchairs.

Institute Activities and Advances

Within the DIR, the Section on Cellular and Membrane Biophysics focuses on understanding how membrane dynamics affect the structure and function of muscle cells and ways to alter those effects. Additional section research is examining ways to measure therapeutic efficacy using activity-related biomarkers. Read NICHD’s 2019 Annual Report of the Division of Intramural Research for more information.

Several DER components support research on MD, muscle development, and muscle function. The Developmental Biology and Congenital Anomalies Branch (DBCAB) supports basic and clinical research on typical and atypical development that relates to the causes and prevention of structural congenital anomalies, including the problems caused by MD.

NICHD’s Intellectual and Developmental Disabilities Branch (IDDB) sponsors research and training in understanding the causes of MD as well as research aimed at preventing and ameliorating MD-related disabilities; this work includes studies on gene-based therapies, such as eteplirsen. IDDB provides funding support to the Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRCs), which study a range of different MDs, and the Eunice Kennedy Shriver Intellectual & Developmental Disabilities Research Centers (EKS-IDDRCs). For example, the EKS-IDDRC at the Children’s National Research Institute is studying an experimental drug for treating inflammation associated with Duchenne MD (DMD) . The Obstetric and Pediatric Pharmacology and Therapeutics Branch (OPPTB) funds Clinical Pharmacology Training Network (CPTN), which lead studies of drug treatments for DMD.

Through the NCMRR, NICHD supports efforts to improve rehabilitation for MD and related conditions. Some of this work includes simulators that help model muscle function in people with MD, to allow providers to fine-tune general rehabilitation techniques for the needs to individuals with MD. Other NCMRR-led activities focus on improving assistive technology to help people with MD function better in their surroundings. Assistive technology support often comes through small business programs specific to rehabilitation.

Some recent MD advances from NICHD and NICHD-funded researchers include the following:

• Genome editing restores dystrophin protein in mouse model of muscular dystrophy. Researchers used myoediting to restore dystrophin protein and leg grip strength in a mouse model of DMD. (PMID: 26721683)
• New mouse model for muscular dystrophies shows defects in repairing muscles. Researchers created a mouse model with tissues that appear similar to and function similarly to those of MD patients, as well as an inability to exercise or repair muscle cells. (PMID 26911675)
• Genome editing restores dystrophin expression in a new mouse model of muscular dystrophy. Using exon skipping, researchers restored up to 90% of dystrophin protein throughout the skeletal and heart muscles in a mouse model of DMD. (PMID: 29187645)
• Mitochondria affect cell membrane repair mechanisms in Duchenne muscular dystrophy. To understand how muscle cells weaken and atrophy in DMD, researchers analyzed two dystrophin-deficient mouse models of MD. (PMID: 27834955)
• Outcome measures for upper extremities in congenital muscular dystrophy. To determine which outcome measures could be used to assess movement in upper extremities, researchers administered several tests to participants with congenital MD. (PMID: 28087121)
• Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Researchers tested the safety and effectiveness of a gene editing approach to treating DMD. (PMID: 30166439)
• Influenza A virus infection damages zebrafish skeletal muscle and exacerbates disease in zebrafish modeling Duchenne muscular dystrophy. Researchers used zebrafish to investigate how influenza A virus affects muscle degeneration in DMD. (PMID: 29188128)

Other Activities and Advances

NICHD also is active in the following projects related to MD research:

• NICHD is a member of the NIH Muscular Dystrophy Coordinating Committee, a federal advisory committee that coordinates research activities relevant to the various forms of MD across NIH and with other federal health programs. The committee comprises NIH and non-NIH members, including directors of NIH institutes and centers that fund and conduct MD research, researchers and clinicians, educators, and representatives from MD advocacy and support groups and families affected by MD.
• The Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRCs), formerly the Muscular Dystrophy Cooperative Research Centers, supported through NICHD’s IDDB and other institutes, foster the translation of new scientific findings and technological developments into novel treatments for MD. NICHD-funded centers focus on DMD and facioscapulohumeral dystrophy (FSHD), but also study other forms of MD. A 2019 report evaluating the MD Research Centers (PDF 142 KB) is also available.