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

Myotubular Myopathy Clinical Trial

— MTM  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02057705
• Other study ID #: VAL-101-13
• Status: Completed
• Start date: February 2014
• Est. completion date: June 26, 2017

Study information

• Verified date: June 2018
• Source: Valerion Therapeutics, LLC
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 48
• Est. completion date: June 26, 2017
• Est. primary completion date: June 26, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Muscular Diseases
• Myotubular Myopathy

Locations

Country	Name	City	State
Belgium	Centre Hospitalier Regional de la Citadelle	Liège
Canada	Hospital for Sick Children, 555 University Avenue	Toronto	Ontario
France	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 Cedex 13
France	Hôpital Sainte Musse	Toulon
Germany	University Hospital of Essen	Essen
Italy	Bambino Gesù Children's Hospital	Rome
Spain	Hôpital Puertas de Mar	Cadiz
United States	Boston Children's Hospital, 300 Longwood Avenue	Boston	Massachusetts

Sponsors (3)

Lead Sponsor	Collaborator
Valerion Therapeutics, LLC	Genethon, Institut de Myologie, France

Countries where clinical trial is conducted

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

References & Publications (4)

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. — View Citation

Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Ørstavik 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. — View 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. Review. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	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
Primary	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
Secondary	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

External Links

•   Muscular Dystrophy Association
•   National Institute of Health