Natural History Studies – Neuromuscular Research Center

State-of-the Art Clinical Endpoints versus Person- Reported Outcomes in Individuals with Neuromuscular Disease: Reliability, Validity and Responsiveness to Change.

Principal Investigator

Craig McDonald, M.D.


Alina Nicorici, B.S.

Study Details

Brief Summary
Before clinical trials can begin in subjects with NMDs, the FDA will require the development of clinically meaningful outcome measures that clearly show that a potential therapy will represent a “life- altering event.” Several potential clinically meaningful outcome measurements have been proposed to test the efficacy of therapeutic treatments in NMDs. The purpose of this study is to determine the interrelationship between the commonly-used outcome measurements for clinical trials of NMDs, and to assess the sensitivity, validity, and responsiveness of these measures to change.


There are no interventions for this study. We call these studies "Natural History Studies."


Inclusion Criteria:

  • Individuals with confirmed diagnosis of BMD, DMD, LGMD, MMD, FSH. SMA Type 2 & 3, ALS or Charcot Marie Tooth - CMT (HMSN) will be included in the study.
  • Age range of other adult subjects will be from 12 to 75 years.
  • Good health at the time of the assessments. Assessments will be rescheduled for a later date in the event of any intercurrent illness that might affect performance.

Exclusion Criteria:

  • Severe mental retardation or behavioral problems that may interfere with the assessments or the ability to provide adequate informed consent.

Recruitment Status

Currently Recruiting