Relevant clinical diagnosis process and special dietary therapy establishment in pyridoxine-dependent epilepsy

Status

Recruiting

Phases

Early Phase 1

Study type

Interventional

Source

ChiCTR

Registry ID

ChiCTR2100054170

Enrollment

Unknown

Registered

2021-12-10

Start date

2021-12-30

Completion date

Unknown

Last updated

2022-11-07

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

Conditions

Pyridoxine-dependent epilepsy

Interventions

Diet intervention group:Triple therapy

Control group:Pyridoxine treatment

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Meet the clinical diagnostic criteria of PDE(pyridoxine-dependent epilepsy); 2. Confirmed by genetic testing: confirmed to carry ALDH7A1 gene mutation (homozygous or complex heterozygous mutation); 3. The parents or guardians of the subjects were informed and signed the informed consent.

Exclusion criteria

Exclusion criteria: 1. Those who cannot cooperate with the treatment of lysine-restricted diet, or have serious adverse reactions (nutritional, neurological or other); 2. Patients with abnormal liver function and other diseases that may affect the level of biochemical markers; 3. After vitamin B6 monotherapy, the seizures stopped and normal behavior and development were established; 4. Developmental delay caused by visual and auditory sensory defects.

Design outcomes

Primary

Measure	Time frame
Mental motor development;	—

Secondary

Measure	Time frame
Clinical seizure;Biochemical marker level;Electroencephalogram;Nutritional status;	—

Countries

China

Contacts

Public ContactYang Zhixian

Peking University First Hospital

zhixian.yang@163.com+86 13671262954

Outcome results

None listed

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