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The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2

NCT04478981 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 38

Last updated 2023-11-18

No results posted yet for this study

Summary

SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene. Currently, not much is known about the natural history of these two muscle diseases and no (curative) treatment options exist. The investigators aim to study the natural history of SELENON- and LAMA2-related myopathy/congenital muscular dystrophy patients and prepare for future trials by selection of the most appropriate outcome measures. To this end, a standard medical history, neurological examination, functional measures, questionnaires, cardiac examination, respiratory function tests, radiological examination and accelerometry will be performed over an one and-a-half year period.

Conditions

  • MDC1A
  • SELENON-related Myopathy

Interventions

OTHER

No intervention

This concerns a natural history study; no interventions will be used

Sponsors & Collaborators

  • Radboud University Medical Center

    lead OTHER

Principal Investigators

  • Nicol Voermans · Radboud University Medical Center

Eligibility

Min Age
1 Day
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-08-26
Primary Completion
2022-05-23
Completion
2023-03-24

Countries

  • Netherlands

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04478981 on ClinicalTrials.gov