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Analysis of unknown mutant genes in a case of congenital persistent pupillary membrane by whole-exome sequencing

Analysis of unknown mutant genes in a case of congenital persistent pupillary membrane by whole-exome sequencing

Status
Active, not recruiting
Phases
Early Phase 1
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2300077752
Enrollment
Unknown
Registered
2023-11-17
Start date
2023-12-01
Completion date
Unknown
Last updated
2023-11-21

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

Conditions

congenital persistent pupillary membrane

Interventions

Case group:None

Sponsors

Shanghai Sixth People's Hospital
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 99 Years

Inclusion criteria

Inclusion criteria: (1) Children with congenital pupillary residual membrane; (2) At least one immediate family member in the family has a pupillary remnant;

Exclusion criteria

Exclusion criteria: (1) sporadic cases; (2) The child has other eye diseases.

Design outcomes

Primary

MeasureTime frame
Whole exome sequencing;

Secondary

MeasureTime frame
Fundus photography;anterior-segment photography;

Countries

China

Contacts

Public ContactWu Qiang

Shanghai Sixth People's Hospital

wyansh@163.com+86 189 3017 7422

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026