Ignite Creation Date:
2025-12-25 @ 3:21 AM
Ignite Modification Date:
2026-01-31 @ 2:20 AM
Study NCT ID:
NCT02057705
Status:
COMPLETED
Last Update Posted:
2018-06-07
First Post:
2014-02-04
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020914', 'term': 'Myopathies, Structural, Congenital'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009123', 'term': 'Muscle Hypotonia'}], 'ancestors': [{'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020879', 'term': 'Neuromuscular Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'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\n* 5 ml blood sample may be obtained for peripheral blood mononuclear cells (PBMC) to quantify X-linked myotubular myopathy gene 1 (MTM1) production\n* 24-hour urine collection will be performed every 6 months in order to measure urinary creatinine excretion\n* 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'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 48}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2014-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-06', 'completionDateStruct': {'date': '2017-06-26', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-06-06', 'studyFirstSubmitDate': '2014-02-04', 'studyFirstSubmitQcDate': '2014-02-05', 'lastUpdatePostDateStruct': {'date': '2018-06-07', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2014-02-07', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-06-26', 'type': 'ACTUAL'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Number of participants with an immune response against adeno-associated virus (AAV)', 'timeFrame': 'Baseline Visit', 'description': 'A 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes.'}], 'primaryOutcomes': [{'measure': 'Time to characterize the disease course in MTM patients', 'timeFrame': 'Up to 24 Months', 'description': 'Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant'}], 'secondaryOutcomes': [{'measure': 'Change in disease severity and disease progression', 'timeFrame': 'Baseline, Month 3 (EU only), Month 6, Month 12 and Month 24', 'description': 'Study-specific functional assessments and patient questionnaires will be used and will be based on the age and ambulatory status of the participant'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['MTM', 'myotubular myopathy', 'X-linked centronuclear myopathy', 'inherited myopathies', 'neuromuscular diseases', 'hypotonia', 'genetic mutation'], 'conditions': ['Myotubular Myopathy']}, 'referencesModule': {'references': [{'pmid': '9931531', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '12467733', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '12467749', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18817572', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '30902907', 'type': 'DERIVED', 'citation': "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."}], 'seeAlsoLinks': [{'url': 'http://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy', 'label': 'National Institute of Health'}, {'url': 'https://www.mda.org/disease/inherited-and-endocrine-myopathies', 'label': 'Muscular Dystrophy Association'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Investigative Research Centers', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria:\n\n* Patients of any age (newborns included) may participate.\n* 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.\n* MTM resulting from a mutation in the MTM1 gene.\n* 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.\n* Willing and able to comply with all protocol requirements and procedures.\n\nExclusion criteria:\n\n* Other disease which may significantly interfere with the assessment of MTM and is clearly not related to the disease.\n* Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine.'}, 'identificationModule': {'nctId': 'NCT02057705', 'acronym': 'MTM', 'briefTitle': 'Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)', 'organization': {'class': 'INDUSTRY', 'fullName': 'Valerion Therapeutics, LLC'}, 'officialTitle': 'Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)', 'orgStudyIdInfo': {'id': 'VAL-101-13'}}, 'contactsLocationsModule': {'locations': [{'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': "Boston Children's Hospital, 300 Longwood Avenue", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '4000', 'city': 'Liège', 'country': 'Belgium', 'facility': 'Centre Hospitalier Regional de la Citadelle', 'geoPoint': {'lat': 50.63373, 'lon': 5.56749}}, {'zip': 'M5G 1X8', 'city': 'Toronto', 'state': 'Ontario', 'country': 'Canada', 'facility': 'Hospital for Sick Children, 555 University Avenue', 'geoPoint': {'lat': 43.70643, 'lon': -79.39864}}, {'zip': '69500', 'city': 'Bron', 'country': 'France', 'facility': 'Hôpital Femme Mère Enfant, CHU Lyon Escale', 'geoPoint': {'lat': 45.73865, 'lon': 4.91303}}, {'zip': '59000', 'city': 'Lille', 'country': 'France', 'facility': 'Roger Salengro Hospital, CHU, Lille', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'zip': '69004', 'city': 'Lyon', 'country': 'France', 'facility': 'Croix Rousse Hospital', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'zip': '75012', 'city': 'Paris', 'country': 'France', 'facility': 'Hôpital Armand Trousseau', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '75012', 'city': 'Paris', 'country': 'France', 'facility': 'Institut I-Motion, Hôpital A. Trousseau', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '75651', 'city': 'Paris', 'country': 'France', 'facility': 'Institut de Myologie, GH Pitié Salpêtrière, Bâtiment Babinski', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '83056', 'city': 'Toulon', 'country': 'France', 'facility': 'Hôpital Sainte Musse', 'geoPoint': {'lat': 43.12442, 'lon': 5.92836}}, {'zip': 'D-45147', 'city': 'Essen', 'country': 'Germany', 'facility': 'University Hospital of Essen', 'geoPoint': {'lat': 51.45657, 'lon': 7.01228}}, {'zip': '4-00165', 'city': 'Rome', 'country': 'Italy', 'facility': "Bambino Gesù Children's Hospital", 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'zip': '21-11009', 'city': 'Cadiz', 'country': 'Spain', 'facility': 'Hôpital Puertas de Mar', 'geoPoint': {'lat': 36.52672, 'lon': -6.2891}}], 'overallOfficials': [{'name': 'Hal Landy, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Valerion Therapeutics, LLC'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Valerion Therapeutics, LLC', 'class': 'INDUSTRY'}, 'collaborators': [{'name': 'Institut de Myologie, France', 'class': 'OTHER'}, {'name': 'Genethon', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}