Generation of induced pluripotent stem cells from patients with genetic neurodevelopmental disorders to study disease mechanisms
Recruiting
- Conditions
- genetic disorders of brain development10029299
- Registration Number
- NL-OMON44331
- Lead Sponsor
- Erasmus MC, afdeling Klinische Genetica
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 40
Inclusion Criteria
patients with genetic causes of neurodevelopmental disorders. In principle patients of all ages are eligible, as some forms of neurodevelopmental disorders present already at young age. Healthy individuals either related or unrelated to the patient.
Exclusion Criteria
-Patient tested as HIV or hepatitis positive.
-Healthy control individuals: Partners of patients and employees of Erasmus MC department of Clinical Genetics are excluded.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>the generation of iPS cells from patient material (blood or skin cells), that<br /><br>have either already been sampled during the diagnostic work-up of the patients,<br /><br>or will be collected when other procedures are scheduled. </p><br>
- Secondary Outcome Measures
Name Time Method <p>the generation of disease models from the generated iPS cells which will allow<br /><br>further functional investigations into the disease mechanisms. </p><br>