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

Completed

• Conditions: Myotubular Myopathy

• Registration Number: NCT02057705
• Lead Sponsor: Valerion Therapeutics, LLC

Brief Summary

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.

Detailed Description

This is a prospective, non-interventional, longitudinal study of the natural history and function of patients with MTM. The study duration is 36 months. The enrollment period will be 12 months and each patient will be assessed over 24 months. Data will be analyzed at baseline and annually thereafter and reports will be prepared based on these analyses. A final report will summarize findings after all patients have completed 24 months of follow-up. Assessments performed in this study will be based on the age and ambulatory status of the patient. The assessments will also be adjusted to account for the variability in both phenotypes and age of the patients who may participate in this study. Patients will be evaluated at Baseline, Month 6, Month 12 and Month 24. It is anticipated that approximately 60 patients from the United States, Canada and Europe will be included in this study.

Study Timeline

• Study Start: 2014-02
• Study First Submitted: 2014-02-04
• Study First Submitted QC: 2014-02-05
• Study First Posted: 2014-02-07
• Primary Completion: 2017-06-26
• Study Completion: 2017-06-26
• Status Verified: 2018-06
• Last Update Submitted: 2018-06-06
• Last Update Posted: 2018-06-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 48

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Time to characterize the disease course in MTM patients	Up to 24 Months	Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant

Secondary Outcome Measures

Name	Time	Method
Change in disease severity and disease progression	Baseline, Month 3 (EU only), Month 6, Month 12 and Month 24	Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant

Trial Locations

Locations (13)

Hôpital Femme Mère Enfant, CHU Lyon Escale; 🇫🇷 Bron, France

Roger Salengro Hospital, CHU, Lille; 🇫🇷 Lille, France

Boston Children's Hospital, 300 Longwood Avenue; 🇺🇸 Boston, Massachusetts, United States

Hôpital Puertas de Mar; 🇪🇸 Cadiz, Spain

Centre Hospitalier Regional de la Citadelle; 🇧🇪 Liège, Belgium

Hospital for Sick Children, 555 University Avenue; 🇨🇦 Toronto, Ontario, Canada

Institut de Myologie, GH Pitié Salpêtrière, Bâtiment Babinski; 🇫🇷 Paris Cedex 13, France

Croix Rousse Hospital; 🇫🇷 Lyon, France

Hôpital Armand Trousseau; 🇫🇷 Paris, France

University Hospital of Essen; 🇩🇪 Essen, Germany

Bambino Gesù Children's Hospital; 🇮🇹 Rome, Italy

Institut I-Motion, Hôpital A. Trousseau; 🇫🇷 Paris, France

Hôpital Sainte Musse; 🇫🇷 Toulon, France