Natural History Study for Patients With Nemaline Myopathy in Spain
Status: Recruiting
Location: See location...
Intervention Type: Other, Device, Diagnostic test
Study Type: Observational
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 of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• 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).
Locations
Other Locations
Spain
University Hospital Vall d'Hebron
RECRUITING
Barcelona
Contact Information
Primary
Laura Costa-Comellas, M.D.
laura.costacomellas@vallhebron.cat
+34677255332
Time Frame
Start Date: 2026-06
Estimated Completion Date: 2032-06
Participants
Target number of participants: 100
Treatments
All patients
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
Related Therapeutic Areas
Sponsors
Leads: Hospital Universitari Vall d'Hebron Research Institute