Health Trials

Natural History Study for Patients With Nemaline Myopathy in Spain

ConditionsNemaline MyopathyMyopathiesMyopathic ConditionsNEBACTA1TPM2TPM3TNNT1CFL2KBTBD13KLHL40KLHL41LMOD3Cohort StudiesMYPNTNNT3
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorHospital Universitari Vall d'Hebron Research Institute

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.

Eligibility criteria

Qualifiers

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).

Disqualifiers

None

Trial design

Treatments tested in this trial

  • Muscle Ultrasound
  • Motor function scales
  • Complete physical examination
  • Ventilatory/ respiratory, Cardiac and other support assessment
  • QOL assessment, Neuropsychological
  • Digital Biomarkers
  • Oromotor function and nutrition
  • Motor Milestone Assessments

Treatment groups

100 Participants
are divided into 1 treatment group

Sponsors and collaborators

Hospital Universitari Vall d'Hebron Research Institute

Lead sponsor

Source ClinicalTrials.gov