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

Clinical inventaristation and identification of (modifier) disease genes for movement disorders using next generation sequencing - Next Generation Sequencing in movement disorder

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON42121

Enrollment

1000

Registered

2014-07-11

Start date

2014-09-01

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

dystonia and ataxia Movement disorder

Interventions

None listed

Eligibility

Age

12 Years to 99 Years

Inclusion criteria

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

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
1) Clinical inventarisation of Dutch MD patients. 2) Mapping and identification of disease genes. 3) Phenotype-genotype evaluation. 4) Molecular studies in patient-derived iPs cells.	—

Secondary

Measure	Time frame
1) To improve diagnosis and genetic counselling and contribute to the development of better care for the MD patients and their relatives. 2) To improve our knowledge on the disease pathology by functional characterization of novel (modifier) disease genes.	—

Countries

Netherlands

Outcome results