G60.0 G71.2 G12.2
Conditions
Interventions
Group 1: - Whole genome sequencing
- Phenotyping studies: questionnaires, physical examination, nerve conduction studies, muscle and nerve ultrasound
- Biomarker studies: metabolic profiles from blood
Sponsors
Medizinische Fakultät der RWTH Aachen
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| No 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 | — |
Countries
Germany
Contacts
Public ContactMaike Dohrn
Medizinische Fakultät der RWTH Aachen
Outcome results
None listed