Complete transcriptome sequencing of Joubert syndrome

Status

Active, not recruiting

Phases

Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2100048366

Enrollment

Unknown

Registered

2021-07-06

Start date

2021-07-01

Completion date

Unknown

Last updated

2022-03-14

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

Conditions

Joubert syndrome

Interventions

Observation group:Exon sequencing and transcriptome sequecing

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: According to the diagnostic criteria of Joubert syndrome: 1.Characteristic changes of brain MRI; 2.Dystonia in infancy and ataxia in later development; 3.Developmental retardation or mental retardation of varying degrees; 4.Abnormal breathing or eye movement.

Exclusion criteria

Exclusion criteria: 1.Simple brain malformation; 2.Postoperative brain surgical operation.

Design outcomes

Primary

Measure	Time frame
Exons;	—

Countries

China

Contacts

Public ContactHua Shaodong

Department of Pediatrics Medicine, PLA General Hospital

hsdcyq@163.com+86 13581850756

Outcome results

None listed

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