Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

Launched by INSTITUT DE MYOLOGIE, FRANCE · Nov 21, 2017

Keywords

ClinConnect Summary

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Gender

ALL

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 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 Criteria:
• • 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