Actively Recruiting
Natural History Study for Patients With Nemaline Myopathy in Spain
Led by Hospital Universitari Vall d'Hebron Research Institute · Updated on 2026-03-23
100
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to understand the progression and clinical features of nemaline myopathies by establishing a detailed patient group in Spain. It looks to identify the specific genes and mutations involved, explore the relationship between symptoms and genetics, and describe how the disease develops without treatments that change its course. The study also seeks to find reliable markers and measurements for future clinical trials and align Spanish research with international efforts. Participants will undergo various assessments, including muscle ultrasound to evaluate muscle condition, motor function tests using several standard scales, and complete physical exams focusing on muscle strength and joint measurements. Additional evaluations include respiratory, cardiac, nutritional, and quality of life assessments, as well as video recordings to analyze movement in detail. These tests will be collected both retrospectively and prospectively over an average of five years. During the study, participants will be regularly monitored through clinical data collection, functional tests, and respiratory evaluations to observe changes over time. Researchers will track muscle condition by ultrasound and assess motor function using tools like CHOP-INTEND and the Motor Function Measure. The study will also observe respiratory function, nutritional status, and quality of life changes. This long-term follow-up aims to provide comprehensive information about the natural course of nemaline myopathies.
CONDITIONS
Brief Title
Natural History Study for Patients With Nemaline Myopathy in Spain
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with a confirmed clinical and genetic diagnosis of nemaline myopathy (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or with a compatible biopsy under discussion
- Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population)
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants undergo various evaluations including muscle ultrasound, motor function scales, complete physical examination, ventilatory and cardiac assessments, quality of life assessments, digital biomarker recordings, oromotor function and nutrition assessments, and motor milestone assessments.
Regular visits for assessments over the course of the study
Duration - Up to 5 years
Participants are monitored to observe changes in muscle echogenicity, motor function, respiratory function, nutritional status, and quality of life over time without disease-modifying therapies.
Ongoing visits to collect clinical, functional, and respiratory data
Trial Site Locations
Total: 1 location
1
University Hospital Vall d'Hebron
Barcelona, Spain, 08035
Actively Recruiting
Research Team
L
Laura Costa-Comellas, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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