Status:
COMPLETED
Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
Lead Sponsor:
Institut de Myologie, France
Collaborating Sponsors:
Dynacure
Conditions:
Centronuclear Myopathy
Eligibility:
All Genders
Phase:
NA
Brief Summary
This is the 2 years extension of the prospective and longitudinal study of the natural history and functional status of patients with myotubular myopathy and other centronuclear (CNM) sponsored by Dyn...
Eligibility Criteria
Inclusion
- 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 be 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.
- Myotubular Centronuclear myopathy (MTMCNM) resulting from a mutation in the MTM1, DNM2 or BIN1 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.
- In France only: Affiliated to or a beneficiary of a social security category
Exclusion
- Other disease which may significantly interfere with the assessment of the MTM CNM and is clearly not related to the disease
- Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine
- For women: pregnancy or current breastfeeding
Key Trial Info
Start Date :
May 28 2017
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
September 30 2021
Estimated Enrollment :
60 Patients enrolled
Trial Details
Trial ID
NCT03351270
Start Date
May 28 2017
End Date
September 30 2021
Last Update
March 2 2023
Active Locations (11)
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1
Centre de référence neuromusculaire, CHR La Citadelle
Liège, Belgium, 4000
2
Hôpital Femme Mère Enfant, CHU Lyon L'Escale
Bron, France, 69500
3
Hôpital Roger Salengro, CHU Lille
Lille, France, 59000
4
Hôpital de la Croix Rousse
Lyon, France, 69004