Molecular Genetics Study of a Thai Family with Chronic Progressive External Ophthalmoplegia with Optic Atrophy

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

TCTR

Registry ID

TCTR20201129001

Enrollment

Registered

2020-11-29

Start date

2020-10-22

Completion date

Unknown

Last updated

2026-08-03

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

Conditions

A family presented with chronic progressive external ophthalmoplegia and disc atrophy Autosomal dominance like inheritance pattern late onset CPEO Disc atrophy mitochondrial disease

Interventions

The family members who have CPEO and disc atrophy

Basic Science

CPEO and disc atrophy

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

Inclusion criteria: Study of a family 8 family members who have chronic progressive external ophthalmoplegia and disc atrophy 2 family member who have no sign and symptom

Exclusion criteria

Exclusion criteria: Deny to involve in the study

Design outcomes

Primary

Measure	Time frame
Mutation Varients 1 year Whole genome sequencing analysis	—

Secondary

Measure	Time frame
none none none	—

Contacts

Public ContactNiphon Chirapapaisan

Faculty of Medicine Siriraj Hospital, Mahidol University

np055@hotmail.com+66896685735

Outcome results

None listed

Source: TCTR (via WHO ICTRP) · Data processed: Aug 9, 2026