Clinical Trial: Myotubular Myopathy Genetic Testing Study

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Myotubular Myopathy Genetic Testing Study

Brief Summary: Same as current

Detailed Summary:

  • Prospective participants will complete registration in the CMDIR.
  • The CMDIR genetic curator will review CMDIR data for study eligibility.
  • If eligible, participant will be called and consented to participate in the study.
  • Sequencing can be done with a saliva sample. However, if this method does not detect a mutation or change in the MTM1 gene, a further test, called CGH Array, has to be performed. For the CGH Array test, a saliva sample may deliver a clear result in terms of a deletion/duplication mutation. In the event, CGH Array with the saliva sample does not provide a result, a the blood sample is necessary to repeat CGH Array.
  • The study participant will receive a kit and instructions for saliva specimen collection for genetic testing from the CMDIR in the mail.
  • If a mutation or change in the MTM1 gene could not be found by genetic testing and CGH Array with a saliva sample, the study participant will receive a second kit in the mail from the CMDIR with instructions for a blood draw to be used for CGH Array.
  • The family will coordinate collection of the saliva specimen or a local blood draw, if necessary, and will be responsible for mailing the specimen in a pre-paid parcel to the University of Chicago. There will be a $40 reimbursement for the cost of the blood draw. Mailing the specimen to the testing site is at no cost for the participant. A two-week turn-around from receipt of the kit to sending it to the testing laboratory is requested.
  • Genetic testing will start with standard sequencing of the MTM1 gene, isolated from the saliva specimen, followed by CGH Array if sequencing of the MTM1 gene isolated from the saliva sample or further from a b
    Sponsor: Cure CMD

    Current Primary Outcome: Description of Mutations in the MTM1 Gene by Complete Genetic Sequencing [ Time Frame: 1 year ]

    To confirm presence, locations and frequencies of mutations in the MTM1 gene in study participants presenting with symptoms as listed in the Brief Summary and muscle biopsy and/or family history typical for myotubular myopathy or prior confirmation of a mutation in the MTM1 gene by research sequencing.


    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    • Frequency of Deletion/Duplication Mutations in the MTM1 Gene by CGH Array Testing [ Time Frame: 1 year ]
      To establish the frequency of deletions/duplications in the MTM1 gene for patients who have negative sequencing but have clinical history/muscle biopsy/family history.
    • To Examine the Relation of the Mutation in the MTM1 Gene to the Phenotype [ Time Frame: 2 years ]
      Investigators will compare mutations characterized by sequencing and CGH array (if necessary) with the following data in the study participant's CMDIR profile: age of onset, ventilatory support needed post-natal and ongoing, maximal motor function achieved, current motor function, need for gastrostomy tube and rate of ER visits and hospitalizations. The individual genotype - phenotype relation will then be compared to that of other study participants. In the event that a genotype-phenotype pattern can be established, this may help predict the course of the disease and prepare for appropriate care.


    Original Secondary Outcome: Same as current

    Information By: Cure CMD

    Dates:
    Date Received: March 19, 2013
    Date Started: March 2013
    Date Completion: March 2019
    Last Updated: July 25, 2016
    Last Verified: July 2016