Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). Some people with XLMTM have been diagnosed clinically but have not had genetic testing. Others have had genetic testing of the MTM1 gene but no change in the DNA was found. The purpose of this study is to provide genetic testing to those children and adults who have symptoms of XLMTM and a muscle biopsy that confirms a centronuclear myopathy who have either not had genetic testing or have had genetic testing that came back negative. Getting a genetic diagnosis is important to participate in future clinical trials.
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, designate a primary physician to report results to and sign a release for medical records
2. The CMDIR staff will coordinate blood or saliva sample collection by communicating directly with the participant.
3. Genetic testing will be performed at University of Chicago. Genetic testing will depend on prior testing and may include standard sequencing of the MTM1 gene and/or CGH array for deletion/duplication in cases where no change in the gene was identified on prior testing.
4. Results of genetic testing will be communicated to participants by the designated physician. A copy of the results will also be faxed directly to the CMDIR.
Participant eligibility will be determined by the CMDIR genetic curator using the following prioritization protocol:
1.Males and females in the US and Canada who have a known mutation in the MTM1 gene identified in a research lab and never confirmed in a clinical CLIA-certified laboratory.
2.Male and female patients in the US and Canada who meet 2 of 3 of the following criteria: + clinical history, + family history, + centronucleation on muscle biopsy (no signs of nemaline rods or cores). Clinical history includes: post-natal breathing support (not necessarily continued after first month), length above 90% for EGA, facial characteristics (narrow facies), facial weakness (ophthalmoplegia, excessive saliva with need for suctioning).
3.Males and females in the US and Canada who present with MTM symptoms and no genetic mutation in the MTM1 gene found with conventional sequencing, requiring CGH array deletion/duplication testing.
4.Age range: One month - no maximum age.
5.Individual is registered with the CMDIR.
6.Written study consent provided 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)
Symptomatic or asymptomatic mothers are not eligible to participate in this study.
To participate in the study, contact the MTM Genetic Testing Study Coordinator:
Sabine de Chastonay, PhD, CMDIR Staff
Participation is at no cost to the patient and there is no compensation for participation. The MTM Genetic Testing Study was approved by the CMDIR Advisory Board. This study is sponsored by Valerion Therapeutics and the CMDIR.
clinicaltrials.gov ID: NCT01817946