Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) (MTM)
|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.|
|ClinicalTrials.gov Identifier: NCT02057705|
Recruitment Status : Completed
First Posted : February 7, 2014
Last Update Posted : June 7, 2018
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|Condition or disease|
|Study Type :||Observational|
|Actual Enrollment :||48 participants|
|Official Title:||Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)|
|Study Start Date :||February 2014|
|Actual Primary Completion Date :||June 26, 2017|
|Actual Study Completion Date :||June 26, 2017|
- 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
- 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|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.
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
|United States, Massachusetts|
|Boston Children's Hospital, 300 Longwood Avenue|
|Boston, Massachusetts, United States, 02115|
|Centre Hospitalier Regional de la Citadelle|
|Liège, Belgium, 4000|
|Hospital for Sick Children, 555 University Avenue|
|Toronto, Ontario, Canada, M5G 1X8|
|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|
|University Hospital of Essen|
|Essen, Germany, D-45147|
|Bambino Gesù Children's Hospital|
|Rome, Italy, 4-00165|
|Hôpital Puertas de Mar|
|Cadiz, Spain, 21-11009|
|Study Director:||Hal Landy, MD||Valerion Therapeutics, LLC|
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||Valerion Therapeutics, LLC|
|Other Study ID Numbers:||
|First Posted:||February 7, 2014 Key Record Dates|
|Last Update Posted:||June 7, 2018|
|Last Verified:||June 2018|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|
X-linked centronuclear myopathy
Myopathies, Structural, Congenital
Nervous System Diseases