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

NCT ID: NCT02057705

Last Updated: 2018-06-07

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 48 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2014-02-28
• Study Completion Date: 2017-06-26

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.

Conditions

Myotubular Myopathy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Institut de Myologie, France

OTHER

Sponsor Role: collaborator

Genethon

OTHER

Sponsor Role: collaborator

Valerion Therapeutics, LLC

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Hal Landy, MD

Role: STUDY_DIRECTOR

Valerion Therapeutics, LLC

Locations

Boston Children's Hospital, 300 Longwood Avenue

Boston, Massachusetts, United States

Centre Hospitalier Regional de la Citadelle

Liège, , Belgium

Hospital for Sick Children, 555 University Avenue

Toronto, Ontario, Canada

Hôpital Femme Mère Enfant, CHU Lyon Escale

Bron, , France

Roger Salengro Hospital, CHU, Lille

Lille, , France

Croix Rousse Hospital

Lyon, , France

Hôpital Armand Trousseau

Paris, , France

Institut I-Motion, Hôpital A. Trousseau

Paris, , France

Institut de Myologie, GH Pitié Salpêtrière, Bâtiment Babinski

Paris, , France

Hôpital Sainte Musse

Toulon, , France

University Hospital of Essen

Essen, , Germany

Bambino Gesù Children's Hospital

Rome, , Italy

Hôpital Puertas de Mar

Cadiz, , Spain

Countries

United States; Belgium; Canada; France; Germany; Italy; Spain

References

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.

Reference Type: BACKGROUND

PMID: 9931531 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 12467733 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 12467749 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 18817572 (View on PubMed)

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.

Reference Type: DERIVED

PMID: 30902907 (View on PubMed)

Related Links

http://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy

National Institute of Health

https://www.mda.org/disease/inherited-and-endocrine-myopathies

Muscular Dystrophy Association

Other Identifiers

VAL-101-13

Identifier Type: -

Identifier Source: org_study_id