Neurological disorders associated with GNAO1 gene variants in children
Conditions
Interventions
Standard treatment group/caffeine citrate combined with standard treatment group:None
Sponsors
Peking University First Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Age of onset<=18 years; 2. Clinical symptoms are seizures or movement disorders, the type of seizures is not limited, movement disorders include dystonia, chorea, athetism, etc., with or without developmental delay; 3. Targeted gene sequencing or whole-exome sequencing (WES) or whole-genome sequencing (WES) detection of patients carrying GNAO1 gene variants, and ACMG guideline ratings are pathogenic or probably pathogenic variants; 4. No previous use of caffeine therapy, or has been off caffeine therapy for more than 1 month; 5. No new seizure drugs and/or movement disorder drugs have been added within 1 month before enrollment, and if there are other anti-seizure drugs or movement disorder drugs combined with other anti-seizure drugs or movement disorder drugs at the time of enrollment, it should be clear that the above drugs are being gradually reduced at the time of enrollment The above drugs have not been increased during the course or within 1 month before enrollment; 6. Patients or guardians voluntarily join the study.
Exclusion criteria
Exclusion criteria: 1. The presence of other pathogenic gene mutations, or chromosomal diseases, or inherited metabolic diseases, or mitochondrial diseases can explain the patient's clinical phenotype; 2. Patients with severe heart disease or arrhythmia, severe respiratory disease, active infection, metabolic disorder or necrotizing enterocolitis, poor general state, not suitable for caffeine application; 3. Presence of abnormal liver function (alanine aminotransferase >=3 times the upper limit of normal); 4. Presence of abnormal renal function (serum creatinine >=3 times the upper limit of normal); 5. Patients who are allergic to caffeine citrate or its components; 6. The patient is using drugs that may interfere with caffeine metabolism, such as theophylline, etc.; The mother of the child had a large intake of caffeine, and there were factors that interfered with the patient's caffeine metabolism; 7. Patients with incomplete medical history or incomplete clinical data.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Efficacy rate of reduction in movement disorder episodes after treatment;Efficacy rate of reduction in movement disorder episodes after treatment; | — |
Secondary
| Measure | Time frame |
|---|---|
| Incidence rate of adverse reactions;Incidence rate of quality of life improvement after treatment; | — |
Countries
China
Contacts
Public ContactXiaoling Yang
Peking University First Hospital
Outcome results
None listed