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.
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.
- Time to characterize the disease course in MTM patients [ Time Frame: 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
- Change in disease severity and disease progression [ Time Frame: 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
Ages Eligible for Study: Child, Adult, Older Adult
Sexes Eligible for Study: All
Accepts Healthy Volunteers: No
Sampling Method: Non-Probability Sample
- 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.
- 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.
United States, Massachusetts - Boston Children's Hospital, 300 Longwood Avenue - Boston, Massachusetts, United States, 02115
Belgium - Centre Hospitalier Regional de la Citadelle - Liège, Belgium, 4000
Canada, Ontario - Hospital for Sick Children, 555 University Avenue - Toronto, Ontario, Canada, M5G 1X8
France - Hôpital Femme Mère Enfant, CHU Lyon Escale - Bron, France, 69500
Roger Salengro Hospital, CHU, Lille - Lille, France, 59000
Croix Rousse Hospital - Lyon, France, 69004
Institut de Myologie, GH Pitié Salpêtrière, Bâtiment Babinski - Paris Cedex 13, France, 75651
Hôpital Armand Trousseau - Paris, France, 75012
Institut I-Motion, Hôpital A. Trousseau - Paris, France, 75012
Hôpital Sainte Musse - Toulon, France, 83056
Germany - University Hospital of Essen - Essen, Germany, D-45147
Italy - Bambino Gesù Children's Hospital - Rome, Italy, 4-00165
Spain - Hôpital Puertas de Mar - Cadiz, Spain, 21-11009
Valerion Therapeutics, LLC
Institut de Myologie, France
Genethon
Hal Landy, MD
Valerion Therapeutics, LLC