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Clinical Trials/CTRI/2023/09/057289
CTRI/2023/09/057289
Recruiting
未知

Investigating the pathomechanisms underlying the RNA exosome component EXOSC1 associated neurodegenerative disorder - EXOSC1

Science and Engineering Research Board (SERB)0 sites0 target enrollmentTBD
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ConditionsHealth Condition 1: Q043- Other reduction deformities of brain

Overview

Phase
未知
Intervention
Not specified
Conditions
Health Condition 1: Q043- Other reduction deformities of brain
Sponsor
Science and Engineering Research Board (SERB)
Status
Recruiting
Last Updated
2 years ago
OverviewInvestigatorsEligibility CriteriaOutcomesSimilar Trials

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
TBD
End Date
TBD
Last Updated
2 years ago
Study Type
Observational

Investigators

Sponsor
Science and Engineering Research Board (SERB)

Eligibility Criteria

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

Outcomes

Primary Outcomes

Not specified

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