MTM Manifesting Carrier Study

Title: 
MTM Manifesting Carrier Study
Recruitment Status: 
Completed
Status Last Updated: 
January 2015
Clinical Phenotype(s): 
Myotubular Myopathy, X-linked - XLMTM/MTM1
Gene(s): 
MTM1
Study Purpose: 

The purpose of this study is to characterize manifesting carriers to identify key symptoms, and to define clinical trial endpoint variability.

Phase: 
Not Applicable
Study Description: 

Myotubular myopathy is an X-linked disorder for which currently no treatment or cure is available. The majority of affected individuals are males; however a series of 6 case reports have described a disease presentation in female manifesting carriers.  Recent studies evaluating both small protein and gene therapy approaches present opportunities for future clinical trials in X-linked myotubular myopathy (XLMTM).  Manifesting carriers may participate in future clinical trials and benefit from therapy developments.

Study Type: 
Observational
Official Title: 
MTM Manifesting Carrier Study
Study Start Date: 
January 2015
Study Completion Date: 
December 2015
Primary Objective(s): 

N/A

Secondary Objective(s): 

N/A

Eligibility: 

Females in the US and Canada who  

1. are confirmed with a MTM1 mutation and manifesting with symptoms consistent with MTM

OR

2. have a muscle biopsy consistent with myotubular myopathy and family history consistent with x-linked inheritance

AND

3. are registered with the CMDIR

AND

4. have provided written study consent by parent/caregiver (affected individual's age less than 18 years or for those individuals greater than 18 years with learning disabilities or inability to physically access consent) or affected individual (age greater than 18 years)

Inclusion Criteria: 
  1. Participants will schedule a telephone interview with Sabine de Chastonay, PhD, the study coordinator.  During the interview, the study will be explained and consent obtained if interested. The participant will be asked to send in a signed study consent, register in the CMDIR, and sign a release for medical records.
  2. If eligible, participants will be invited to travel to the National Institutes of Health (NIH), in Bethesda, MD, for a 2-day examination. All travel is coordinated and covered by the NIH.
  3. There is no compensation for participation.
Exclusion Criteria: 

None

Study Site(s)/Location(s): 

United States, Maryland

NIH

Bethesda, Maryland

Sponsors & Collaborators: 

Sabine de Chastonay, PhD

Principal Investigator(s): 

Sabine de Chastonay, PhD

For more information, please contact the Study Coordinator: 

Contact:  

Email: 

Phone: 

ClinicalTrials.gov ID: 
N/A
Additional Comments: 

See publication: https://www.ncbi.nlm.nih.gov/pubmed/31541013