Natural history of nemaline myopathy in Spain
Natural History Study for Patients With Nemaline Myopathy in Spain
This program will follow people in Spain who have nemaline myopathy to chart how the condition changes over time and collect clinical, genetic, and functional data for future trials.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | Hospital Universitari Vall d'Hebron Research Institute Academic / other |
| Locations | 1 site (Barcelona) |
| Trial ID | NCT07488806 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are people in Spain with a confirmed clinical and genetic diagnosis of nemaline myopathy (or a compatible muscle biopsy) who can give informed consent and attend visits at the study center.
Not a fit: Patients seeking immediate access to disease-modifying therapies, those without a confirmed diagnosis, or those unable to travel to Barcelona are unlikely to receive direct therapeutic benefit from participation.
Why it matters
Potential benefit: If successful, the program could speed development of treatments by defining outcome measures, identifying biomarkers, and improving patient selection for future clinical trials.
How similar studies have performed: Natural history efforts in other countries for nemaline myopathy and related congenital myopathies have produced useful genotype–phenotype data and trial-ready outcome measures, but NM-specific datasets remain limited.
Eligibility criteria
Show full inclusion / exclusion 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).
Where this trial is running
Barcelona
- University Hospital Vall d'Hebron — Barcelona, Spain (Recruiting)
Study contacts
- Study coordinator: Laura Costa-Comellas, M.D.
- Email: laura.costacomellas@vallhebron.cat
- Phone: +34677255332
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.