Establishment and application of an in vitro cell model of epilepsy related to NR2F1 gene variation

Status

Recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2100043526

Enrollment

Unknown

Registered

2021-02-21

Start date

2021-02-21

Completion date

Unknown

Last updated

2021-06-14

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

Conditions

epilepsy related to NR2F1 gene variation

Interventions

NR2F1 variation group:Nil

without NR2F1 variation group:Nil

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Test group The following inclusion criteria must be met to be included in this study: (1) Both men and women are welcome, regardless of age (2) Genetic diagnosis: The patient must have NR2F1 gene variation. (3) The patient has BBSOAS-related symptoms: optic atrophy and/or hypoplasia, intellectual disability, hypotonia, and epilepsy. (4) The type of seizures is not limited. (5) The legal guardian of the subject must be willing and able to complete relevant inspections and tests before the test. (6) The legal guardian of the subject can communicate well with the researcher and abide by the relevant regulations of the research. (7) The legal guardian of the subject agreed to sign a written informed consent. 2. Healthy control group Standard constrain: (1) The health control group is the parent of the test group, regardless of age, normal phenotype, and no NR2F1 variation. (2) Random healthy control group: children of the same age and same sex matched with patients with NR2F1 variation, with normal phenotype and no NR2F1 gene mutation. (3) The legal guardian of the subject can communicate well with the researcher and abide by the relevant regulations of the research. (4) The legal guardian of the subject agreed to sign a written informed consent.

Exclusion criteria

Exclusion criteria: (1) The subject must have no uncontrollable infection. (2) Insufficient communication, understanding, and cooperation of patients, or poor compliance, cannot be guaranteed to proceed according to the plan. (3) No history of alcoholism, drug abuse, or drug abuse, no history of HIV, syphilis and other infectious diseases. (4) Those who have participated in any clinical trials within 3 months before enrollment. (5) According to the investigator's assessment, patients who believe that they are not suitable for enrollment due to various other reasons.

Design outcomes

Primary

Measure	Time frame
iPS cell line;	—

Countries

China

Contacts

Public ContactLi-Ping Zou

The Paediatrics Center of PLA General Hospital

zouliping21@hotmail.com+86 010 66939770

Outcome results

None listed

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