Natural history of nemaline myopathy in Spain

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational natural history program enrolls patients with genetically or clinically confirmed nemaline myopathy in Spain to collect retrospective and prospective clinical data. Participants undergo detailed phenotyping including genetic testing, muscle ultrasound, motor function scales, respiratory and cardiac assessments, quality-of-life and neuropsychological measures. The project will track disease progression, define genotype–phenotype relationships, and seek reliable biomarkers and outcome measures for future therapeutic trials. Data collection is standardized to align with international efforts and to facilitate long-term follow-up and recruitment for interventional studies.

Why it matters

Who can join: the full rules

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).

Where it's running

• University Hospital Vall d'Hebron
  Barcelona, Spain Recruiting

Study contacts

• Study coordinator: Laura Costa-Comellas, M.D.
• Email: laura.costacomellas@vallhebron.cat
• Phone: +34677255332

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.