Overview
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.
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 natural history of NM through the systematic collection of clinical (retrospective and prospective data), functional, and respiratory data in diagnosed patients in order to:
- Describe the progression of the disease without disease-modifying therapies.
- Identify reliable biomarkers and outcome measures for future clinical trials.
- Align the national protocol with international efforts to generate comparable data.
Eligibility
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).
