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

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ClinicalTrials.gov Identifier: NCT02057705
Recruitment Status : Completed
First Posted : February 7, 2014
Last Update Posted : June 7, 2018
Sponsor:
Collaborators:
Institut de Myologie, France
Genethon
Information provided by (Responsible Party):
Valerion Therapeutics, LLC

Tracking Information
First Submitted Date February 4, 2014
First Posted Date February 7, 2014
Last Update Posted Date June 7, 2018
Study Start Date February 2014
Actual Primary Completion Date June 26, 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 24, 2014)
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
Original Primary Outcome Measures
 (submitted: February 5, 2014)
Time to characterize the disease course in MTM patients [ Time Frame: Up to 24 Months ]
Study-specific functional assessments and patient questonnaires will be used and will be based on the age and ambulatory status of the participant
Change History
Current Secondary Outcome Measures
 (submitted: April 24, 2014)
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
Original Secondary Outcome Measures
 (submitted: February 5, 2014)
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 questonnaires will be used and will be based on the age and ambulatory status of the participant
Current Other Pre-specified Outcome Measures
 (submitted: February 5, 2014)
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.
Original Other Pre-specified Outcome Measures Same as current
 
Descriptive Information
Brief Title Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Official Title Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
  • 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
Sampling Method Non-Probability Sample
Study Population Investigative Research Centers
Condition Myotubular Myopathy
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: July 27, 2017)
48
Original Estimated Enrollment
 (submitted: February 5, 2014)
60
Actual Study Completion Date June 26, 2017
Actual Primary Completion Date June 26, 2017   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Belgium,   Canada,   France,   Germany,   Italy,   Spain,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02057705
Other Study ID Numbers VAL-101-13
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Valerion Therapeutics, LLC
Study Sponsor Valerion Therapeutics, LLC
Collaborators
  • Institut de Myologie, France
  • Genethon
Investigators
Study Director: Hal Landy, MD Valerion Therapeutics, LLC
PRS Account Valerion Therapeutics, LLC
Verification Date June 2018