Neurodevelopmental disorder caused by pathogenic gene variation of STXBP1
Conditions
Interventions
Experimental group:On the basis of keeping the patients original treatment plan unchanged, administer combined treatment with glycerol phenylbutyrate.
Sponsors
Hunan Children‘’s Hosptial
Eligibility
Sex/Gender
All
Age
No minimum to 17 Years
Inclusion criteria
Inclusion criteria: 1.Children diagnosed with STXBP1-E. Confirmed by a genetic report (i.e., genetic testing showing a pathogenic or likely pathogenic mutation in STXBP1 and clinical manifestations consistent with the disease determined by the researcher). Those with the clinical manifestations of STXBP1-E, and the protein expressed by STXBP1 has been confirmed to still exist in the body through mutation pathogenicity software prediction or gene function tests. 2.Aged between 2 months and 17 years old (both 2 months and 17 years old are included). 3.For children with STXBP1-E, the child must have had at least one epileptic seizure within the past 30 days before enrollment. (Details of the previous frequency of epileptic seizures, seizure patterns, medication and withdrawal situations should be collected in detail before enrollment). 4.In good general health condition. Except for the neurological consequences of STXBP1-E, according to the opinion of the clinician, there are no concurrent diseases that increase the risk of adverse drug reactions for the subject or will interfere with subsequent research. 5.The laboratory test results of blood transaminases (aspartate transaminase [AST] and alanine transaminase [ALT]) and ammonia at the time of screening are normal ( 90 mL/min/1.73m² at the time of screening. 7.Platelet count > 150 × 10³/µL at the time of screening. 8.The QT interval corrected by Fridericia's formula (QTcF) on the screening electrocardiogram < 450 milliseconds. 9.The parent or guardian is able to understand and willing to sign the informed consent form (ICF).
Exclusion criteria
Exclusion criteria: 1.Having participated in another study within 30 days. 2.The QT interval corrected by Fridericia's formula (QTcF) on the screening electrocardiogram >= 450 milliseconds. 3.Having an active disease that prevents participation in the study (determined by the researcher). 4.Clinical laboratory evaluations beyond the reference range of the testing laboratory, unless the researcher and the sponsor consider it to have no clinical significance. 5.Inability to comply with the study protocol. 6.Poor venous access and/or inability to tolerate venipuncture. 7.Known allergy to phenylbutyric acid. Allergic symptoms include wheezing, dyspnea, coughing, hypotension, flushing, nausea, and rash. 8.Taking alfentanil, quinidine, cyclosporine, or probenecid (known to interact with phenylbutyric acid). For subjects who have taken any of these drugs in the past, the last dose must have been taken at least 1 week before participating in the study. 9.The patient has a congenital error of ß-oxidation. 10.Pancreatic insufficiency or intestinal malabsorption.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Seizure frequency;Electroencephalogram;Blood ammonia; | — |
Secondary
| Measure | Time frame |
|---|---|
| Sleep quality;GESELL and Wechsler Intelligence Scale;Infant heart scale;Bailey scale;Electrocardiogram;Liver and kidney function;Blood routine examination; | — |
Countries
China
Contacts
Public ContactHua Wang
Hunan Children‘’s Hosptial
Outcome results
None listed