Natural History Study for Patients With Nemaline Myopathy in Spain
Recruiting
Observational Study
Nemaline Myopathy
Myopathies
Myopathic Conditions
NEB
ACTA1
TPM2
TPM3
TNNT1
CFL2
KBTBD13
KLHL40
KLHL41
LMOD3
Cohort Studies
MYPN
TNNT3
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100 (estimated)
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute · Other
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About This Trial
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.
Trial Locations
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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 Authorit…
Contacts