Investigating EXOSC1 linked neurodegenerative disorder
Not Applicable
- Conditions
- Health Condition 1: Q043- Other reduction deformities of brain
- Registration Number
- CTRI/2023/09/057289
- Lead Sponsor
- Science and Engineering Research Board (SERB)
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Open to Recruitment
- Sex
- Not specified
- Target Recruitment
- 0
Inclusion Criteria
Inclusion criteria (primary fibroblast to iPSC generation): subject with neurodegenerative pontocerebellar hypoplasia type 1F and pathogenic variant in EXOSC1 will be recruited into the study.
– Inclusion criteria (primary fibroblast studies): subjects with pathogenic variants in RNA exosome component genes, eg. EXOSC5, EXOSC6, EXOSC7, EXOSC8 etc will be included in the study
Exclusion Criteria
– Exclusion criteria (primary fibroblast to iPSC generation): subjects without pathogenic variants in EXOSC1 will be excluded.
– Exclusion criteria (primary fibroblast studies): subjects with no pathogenic variants in RNA exosome genes will be excluded
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method This project aims to study: <br/ ><br>1. Effects of EXOSC1 pathogenic mutations on neurodevelopment & differentiation in vitro. Fibroblasts from patients with EXOSC1 pathogenic variant will be converted to induced pluripotent stem cells & further differentiated into neuronal lineages in 2D culture <br/ ><br>Timepoint: 3 years as patients with pathogenic variants in the specified genes become available & consent to participate
- Secondary Outcome Measures
Name Time Method Patients with pathogenic variants in other RNA exosome components will be recruited to donate primary skin fibroblasts. These will be used to study the RNA exosome in these cells.Timepoint: 3 years as patients with pathogenic variants in the specified genes become available & consent to participate