Generation of induced pluripotent stem cells from patients with genetic neurodevelopmental disorders to study disease mechanisms

Generation of induced pluripotent stem cells from patients with genetic neurodevelopmental disorders to study disease mechanisms - iPSCs for understanding neurodevelopment

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON44331

Enrollment

Registered

2017-09-01

Start date

2017-10-29

Completion date

Unknown

Last updated

2024-02-28

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

Conditions

genetic disorders of brain development

Interventions

-clinical genetics

-disease modelling

-Induced pluripotent stem cells

-neurodevelopment

Eligibility

Age

2 Years to 64 Years

Inclusion criteria

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

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.

Design outcomes

Primary

Measure	Time frame
the generation of iPS cells from patient material (blood or skin cells), that have either already been sampled during the diagnostic work-up of the patients, or will be collected when other procedures are scheduled.	—

Secondary

Measure	Time frame
the generation of disease models from the generated iPS cells which will allow further functional investigations into the disease mechanisms.	—

Countries

The Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)