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| Name | Class |
|---|---|
| Institut de Myologie, France | OTHER |
| Genethon | OTHER |
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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Time to characterize the disease course in MTM patients | Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant | Up to 24 Months |
| Measure | Description | Time Frame |
|---|---|---|
| Change in disease severity and disease progression | Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant | Baseline, Month 3 (EU only), Month 6, Month 12 and Month 24 |
| Measure | Description | Time Frame |
|---|---|---|
| Number of participants with an immune response against adeno-associated virus (AAV) | A 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes. | Baseline Visit |
Inclusion criteria:
Exclusion criteria:
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Investigative Research Centers
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| Name | Affiliation | Role |
|---|---|---|
| Hal Landy, MD | Valerion Therapeutics, LLC | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital, 300 Longwood Avenue | Boston | Massachusetts | 02115 | United States | ||
| Centre Hospitalier Regional de la Citadelle |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 9931531 | Background | Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr. 1999 Feb;134(2):206-14. doi: 10.1016/s0022-3476(99)70417-8. | |
| 12467733 | Background | Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Orstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscul Disord. 2003 Jan;13(1):55-9. doi: 10.1016/s0960-8966(02)00194-3. |
| Label | URL |
|---|---|
| National Institute of Health | View source |
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| Liège |
| 4000 |
| Belgium |
| Hospital for Sick Children, 555 University Avenue | Toronto | Ontario | M5G 1X8 | Canada |
| Hôpital Femme Mère Enfant, CHU Lyon Escale | Bron | 69500 | France |
| Roger Salengro Hospital, CHU, Lille | Lille | 59000 | France |
| Croix Rousse Hospital | Lyon | 69004 | France |
| Hôpital Armand Trousseau | Paris | 75012 | France |
| Institut I-Motion, Hôpital A. Trousseau | Paris | 75012 | France |
| Institut de Myologie, GH Pitié Salpêtrière, Bâtiment Babinski | Paris | 75651 | France |
| Hôpital Sainte Musse | Toulon | 83056 | France |
| University Hospital of Essen | Essen | D-45147 | Germany |
| Bambino Gesù Children's Hospital | Rome | 4-00165 | Italy |
| Hôpital Puertas de Mar | Cadiz | 21-11009 | Spain |
| 12467749 | Background | McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002 Dec;12(10):939-46. doi: 10.1016/s0960-8966(02)00153-0. |
| 18817572 | Background | Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. |
| 30902907 | Derived | Annoussamy M, Lilien C, Gidaro T, Gargaun E, Che V, Schara U, Gangfuss A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L. X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019 Apr 16;92(16):e1852-e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22. |
| Muscular Dystrophy Association | View source |
| ID | Term |
|---|---|
| D020914 | Myopathies, Structural, Congenital |
| D009468 | Neuromuscular Diseases |
| D009123 | Muscle Hypotonia |
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009422 | Nervous System Diseases |
| D020879 | Neuromuscular Manifestations |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
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