Tracking down neuromuscular disorders: in-depth diagnostics and interdisciplinary genotype-phenotype characterizatio

Recruiting

• Conditions: G60.0; G71.2; G12.2; Hereditary motor and sensory neuropathy; Congenital myopathies; Motor neuron disease

• Registration Number: DRKS00025308
• Lead Sponsor: Medizinische Fakultät der RWTH Aachen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2023-12-12
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

1. male, female, or other sex/gender, age = 18 years
2. written informed consent prior to participation in the study
3. clinical picture of a neuromuscular disorder in the participant or a first-degree blood relative (parents, siblings, children)
4. the participant is willing and able to comply with the procedures described in the project plan

Exclusion Criteria

1. failure to meet one of the inclusion criteria
2. lack of capacity to consent.
Comment: Pregnancy is not an exclusion criterion for participation in the study. There is no health risk for the expectant mother or her unborn child as a result of the planned examinations.

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
o primary endpoint as in clinical trials, study objective: characterization and genotyping of as many hereditary neuropathy patients as possible, identification of genetic causes in as many cases as possible, and discovery of new disease genes