Mitochondrial epilepsy
Conditions
Interventions
Intervention group:ketogenic diet with conventional medication
Control group:Ordinary diet combined with conventional medication for 4 weeks, then ketogenic diet combined with conventional medication for 12 weeks
Sponsors
Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology
Eligibility
Sex/Gender
All
Age
No minimum to 16 Years
Inclusion criteria
Inclusion criteria: (1) Meeting the diagnostic criteria for epilepsy (ILAE 2017); (2) Genetic diagnosis is clearly mitochondrial disease (A3243G, T3271C, A3302G, and other hot spot mutations, respiratory chain complex I, tRNA, PDHa and coenzyme I defects), biochemical indicators (lactic acid and pyruvate) abnormalities, the main enrolled children were mitochondrial disease with epilepsy; (3) Age: newborn - 16 years old; gender: unlimited; (4) No previous treatment with ketogenic diet; (5) The guardians and patients (over 10 years old) agree to use ketogenic diet and sign informed consent; (6) The guardians and patients agree with this research program and are willing to accept randomized enrollment studies; (7) Intestinal flora will be detected 3-4 times if children have been not used antibiotics and probiotics for at least 4 weeks;
Exclusion criteria
Exclusion criteria: (1) Patients with severe digestion, cardiovascular, respiratory, liver, urinary system or contraindications to ketogenic diet (eg, complex type 2-5 in ETC deficiency, fatty acid metabolism disorders, etc.), and congenital immunodeficiency diseases; (2) Severe vomiting; (3) Active period of fever or infectious diseases; (4) Others: including the contraindications listed in the unspecified form above: Metabolic disease contraindicating use of the ketogenic diet e.g. pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency, porphyria, long-chain acyl-dehydrogenase deficiency (LCAD), medium-chain acyl-dehydrogenase deficiency (MCAD) from previous medical investigation and screening at baseline; (5) Patients who have undergone transplantation surgery, stem cell therapy, transfusion of allogeneic blood products within six months, and hemolytic disease;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Seizure situation;Blood biochemical indicators (changes in lactic acid and pyruvic acid, pH); | — |
Secondary
| Measure | Time frame |
|---|---|
| Development, behavior, quality of life assessment and other indicators;EEG;Changes in the skull image (flat scan);Number of hospitalizations;Intestinal flora detection;Mitochondrial Disease scale; | — |
Countries
China
Contacts
Public ContactSun Dan
Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology
Outcome results
None listed