Status:
RECRUITING
Natural History Study for Patients With Nemaline Myopathy in Spain
Lead Sponsor:
Hospital Universitari Vall d'Hebron Research Institute
Conditions:
Nemaline Myopathy
Myopathies
Eligibility:
All Genders
Brief Summary
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort o...
Detailed Description
The aims of the study are: * Identify the specific genes and mutations responsible for NM in Spain. * Define the in-depth phenotyping of NM and the phenotype-genotype relationship. * Characterize the...
Eligibility Criteria
Inclusion Criteria:
- Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
- Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population).
Key Trial Info
Start Date :
June 1 2026
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 1 2032
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT07488806
Start Date
June 1 2026
End Date
June 1 2032
Last Update
March 23 2026
Active Locations (1)
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1
University Hospital Vall d'Hebron
Barcelona, Spain, 08035