Mitochondrial Disease
Conditions
Interventions
Ketogenic Diet(KD) Group:Be on a ketogenic diet
Control group:Conventional treatment
Sponsors
Shenzhen Children's Hospital
Eligibility
Sex/Gender
All
Age
0.2 Years to 100 Years
Inclusion criteria
Inclusion criteria: 1.Completion of peripheral blood genetic testing confirming the presence of a pathogenic variant related to mitochondrial genes. 2.Diagnosis of mitochondrial encephalomyopathy, with clinical manifestations consistent with the condition at baseline assessment. These may include stroke-like episodes, epilepsy, cognitive and psychiatric disturbances, dystonia, ataxia, headache, exercise intolerance and/or muscle weakness, hirsutism, feeding difficulties, nystagmus, visual impairment, sensorineural hearing loss, peripheral neuropathy, gastrointestinal dysfunction, cardiac disease, and other related endocrine disorders. Characteristic changes must be present in biochemical tests, electrophysiological and imaging studies, or muscle biopsy. 3.Age >= 2 months and weight >= 5 kg. 4.No contraindications to ketogenic diet therapy and no prior ketogenic diet treatment within the last 3 months. 5.The patient and their parent(s)/guardian(s) are capable of understanding and willing to comply with the study procedures and restrictions; they consent to participate in the clinical research and agree to undergo ketogenic diet therapy. 6.The patient and their parent(s)/guardian(s) are capable of understanding and willing to comply with the study procedures and restrictions; they consent to participate in the clinical research but do not agree to undergo ketogenic diet therapy. Group Assignment: Patients who meet criteria 1-5 and agree to ketogenic diet therapy will be enrolled in the Experimental Group. Patients who meet criteria 1-4 and 6 and do not agree to ketogenic diet therapy will be enrolled in the Control Group.
Exclusion criteria
Exclusion criteria: Patients who meet any one or more of the following criteria will be excluded from the study: 1.Patients in whom a definitive diagnosis cannot be established via peripheral blood genetic testing. 2.Contraindications to ketogenic diet therapy, such as disorders of fatty acid metabolism or conditions that preclude its use. These include: defects in ß-oxidation, porphyria, pyruvate carboxylase deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, medium-chain 3-hydroxyacyl-CoA dehydrogenase (MCHAD) deficiency, long-chain acyl-CoA dehydrogenase (LCAD) deficiency, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, short-chain acyl-CoA dehydrogenase (SCAD) deficiency, primary carnitine deficiency, carnitine palmitoyltransferase I or II deficiency, and carnitine translocase deficiency. 3.Known or suspected allergy to any product related to the ketogenic diet. 4.Patients who have received ketogenic diet therapy within the last 3 months. 5.Patients aged <2 months or with a body weight <5.0 kg. 6.Severe hepatic or renal insufficiency, hyperlipidemia, urinary system stones, immunodeficiency diseases, etc. 7.Patients who experienced severe adverse reactions during previous ketogenic diet treatment. 8.Patients and/or their parent(s)/guardian(s) who do not consent to participate in this study or are unable to cooperate with documentation/record-keeping. 9.Any other condition deemed by the investigator as making the patient unsuitable for participation in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Reduction in seizure frequency;Improvement in other clinical symptoms; | — |
Secondary
| Measure | Time frame |
|---|---|
| Blood Lactate Level;Lactate/Pyruvate;Blood Ammonia Level;Length of Stay (LOS);Cumulative Length of Stay (cLOS); | — |
Countries
China
Contacts
Public ContactQiao Xiaoying
Shenzhen Children's Hospital
Outcome results
None listed