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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02057705
First Posted: February 7, 2014
Last Update Posted: August 1, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborators:
Institut de Myologie, France
Genethon
Information provided by (Responsible Party):
Valerion Therapeutics, LLC
  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.

Condition
Myotubular Myopathy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Resource links provided by NLM:


Further study details as provided by Valerion Therapeutics, LLC:

Primary Outcome Measures:
  • 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


Secondary Outcome Measures:
  • 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


Other Outcome Measures:
  • Number of participants with an immune response against adeno-associated virus (AAV) [ Time Frame: Baseline Visit ]
    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

Enrollment: 48
Study Start Date: February 2014
Study Completion Date: June 26, 2017
Primary Completion Date: June 26, 2017 (Final data collection date for primary outcome measure)
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.
  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Investigative Research Centers
Criteria

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.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02057705


Locations
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
Sponsors and Collaborators
Valerion Therapeutics, LLC
Institut de Myologie, France
Genethon
Investigators
Study Director: Hal Landy, MD Valerion Therapeutics, LLC
  More Information

Additional Information:
Publications:
Responsible Party: Valerion Therapeutics, LLC
ClinicalTrials.gov Identifier: NCT02057705     History of Changes
Other Study ID Numbers: VAL-101-13
First Submitted: February 4, 2014
First Posted: February 7, 2014
Last Update Posted: August 1, 2017
Last Verified: July 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Valerion Therapeutics, LLC:
MTM
myotubular myopathy
X-linked centronuclear myopathy
inherited myopathies
neuromuscular diseases
hypotonia
genetic mutation

Additional relevant MeSH terms:
Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases