Clinical inventaristation and identification of (modifier) disease genes for movement disorders using next generation sequencing

Recruiting

• Conditions: dystonia and ataxia; Movement disorder; 10083624; 10028037

• Registration Number: NL-OMON42121
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 1000

Inclusion Criteria

Patient: Patient with diagnosis movement disorder
Family member: Family member of a patient with a diagnosis of movement disorder

Exclusion Criteria

Patient: Not a patient with diagnosis movement disorder
Family member: Not a family member of a patient with a diagnosis movement disorder
No informed consent obtained for this study
(Severe) physical illness
Not being able to understand Dutch language

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1) Clinical inventarisation of Dutch MD patients.<br /><br><br /><br>2) Mapping and identification of disease genes.<br /><br><br /><br>3) Phenotype-genotype evaluation.<br /><br><br /><br>4) Molecular studies in patient-derived iPs cells.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1) To improve diagnosis and genetic counselling and contribute to the<br /><br>development of better care for the MD patients and their relatives.<br /><br>2) To improve our knowledge on the disease pathology by functional<br /><br>characterization of novel (modifier) disease genes.</p><br>