Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease

C1orf194 anf eplpesy?

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2100047715

Enrollment

Unknown

Registered

2021-06-23

Start date

2021-02-01

Completion date

Unknown

Last updated

2022-02-28

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

Conditions

Charcot-Marie-Tooth

Interventions

Case series:Nil

Eligibility

Sex/Gender

Male

Inclusion criteria

Inclusion criteria: 6 month- 18 years

Exclusion criteria

Exclusion criteria: ?

Design outcomes

Primary

Measure	Time frame
Mutations in C1orf194;	—

Contacts

Public ContactSanmei Wang

The Seventh Medical Center, PLA General Hospital

wangsanmei66@163.com+86 13683383295

Outcome results

None listed

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