PatientCrossroads CMD


           

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Study Start:  February 2014
 
Purpose
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies

Study Details
Primary Outcome Measures:
  • Time to characterize the disease course in MTM patients        
Study-specific functional assessments and patient questonnaires will be used and will be based on the age and ambulatory status of the participant

Secondary Outcome Measures:
  • Change in disease severity and disease progression
    Study-specific functional assessments and patient questonnaires will be used and will be based on the age and ambulatory status of the participant

Other Outcome Measures:
  • Number of participants with an immune response against adeno-associated virus (AAV)
    A 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes.

Biospecimen Retention:   Samples With DNA
  • 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes
  • 5 ml blood sample may be obtained for peripheral blood mononuclear cells (PBMC) to quantify X-linked myotubular myopathy gene 1 (MTM1) production
  • 24-hour urine collection will be performed every 6 months in order to measure urinary creatinine excretion
  • Slides and tissue from a previously performed muscle biopsy will be obtained for a central review and quantification of histo- and immunohistopathological features of MTM
 
Eligibility
Inclusion criteria:
  • Patients of any age (newborns included) may participate.
  • Patients over 18 years of age and parent(s)/legal guardian(s) of patients <18 years of age must provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
  • MTM resulting from a mutation in the MTM1 gene.
  • Male or symptomatic female. A symptomatic female will be defined by the motor function assessment by Motor Function Measure (MFM) or North Star Ambulatory Assessment (NSAA) below 80% of the total score.
  • Willing and able to comply with all protocol requirements and procedures.

Exclusion criteria:

  • Other disease which may significantly interfere with the assessment of MTM and is clearly not related to the disease.
  • Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine.

Contact
Michelle Nelken
Phone: 617-755-4149
Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it
 
Sponsors and Collaborators
Valerion Therapeutics, LLC
Institut de Myologie, France
Genethon


clinicaltrials.gov ID:  NCT02057705