Mitochondrial Diabetes
Conditions
Brief summary
Mitochondrial diabetes mellitus (MDM) is a rare subtype of diabetes caused by mitochondrial dysfunction, often accompanied by hepatic steatosis. Coenzyme Q10 (CoQ10), a key electron carrier and antioxidant, may improve mitochondrial function and lipid metabolism. This prospective study aims to evaluate the effect of 12-week CoQ10 supplementation (300 mg/day) on liver fat content (assessed by FibroTouch CAP ) in MDM patients with m.3243A\>G mutation. An exploratory case-control design will compare baseline characteristics among MDM patients, type 1 diabetes patients, and healthy controls. This study is the first to explore the link between mitochondrial defects and hepatic fat accumulation specifically in MDM, and to test CoQ10 as a potential therapy, offering new insights for both MDM and MAFLD management.
Detailed description
1. Research Materials Coenzyme Q10: Utilize Coenzyme Q10 formulations that comply with Good Manufacturing Practice (GMP) standards (e.g., Bio-Quinone or equivalent quality products), with each capsule containing 100 mg of Coenzyme Q10 and excipients such as soybean oil and beeswax. Control Medication: None. 2. Treatment Protocols Mitochondrial Diabetes Group: On the basis of maintaining the original hypoglycemic treatment regimen (primarily insulin, avoiding metformin), add Coenzyme Q10 at a dose of 100 mg three times daily (total dose of 300 mg/day) for 12 consecutive weeks. Type 1 Diabetes Control Group and Healthy Control Group: Only undergo baseline assessments without intervention. Concomitant Medication Regulations: Maintain the patient's original hypoglycemic treatment regimen unchanged. Avoid using medications that may affect mitochondrial function (e.g., minimize or switch metformin and statins if possible). Do not add other medications or supplements with antioxidant or mitochondrial protective effects during the study period. If adjustments to hypoglycemic medications are necessary due to clinical conditions, record the medication name, dosage, and reasons for adjustment in detail.
Interventions
This prospective study aims to evaluate the effect of 12 week CoQ10 supplementation (300 mg/day) on liver fat content (assessed by FibroTouch CAP) in MDM patients with m.3243A\>G mutation. An exploratory case control design will compare baseline characteristics among MDM patients, type 1 diabetes patients, and healthy controls.
OTHEROnly undergo baseline assessments without intervention.
Only undergo baseline assessments without intervention.
Sponsors
The 95th Hospital of Putian，Putian, Fujian, China
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
SINGLE (Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
18 Years to 70 Years
Healthy volunteers
Yes
Inclusion criteria
1\. Mitochondrial Diabetes Group Inclusion Criteria: 1. Confirmed as a carrier of the mitochondrial DNA m.3243A\>G mutation through genetic testing; 2. Meeting the diagnostic criteria for diabetes (WHO 1999 diagnostic criteria); 3. Aged between 18 and 70 years; 4. Willing to participate and having signed the informed consent form.
Exclusion criteria
1. Type 1 or type 2 diabetes (not caused by mitochondrial gene mutations); 2. Comorbid with viral hepatitis, drug-induced hepatitis, alcoholic liver disease, Wilson's disease, or other specific diseases that can lead to fatty liver; 3. Severe cardiac, pulmonary, or renal insufficiency; 4. Pregnant or lactating women; 5. Having used coenzyme Q10 or other mitochondrial-targeted drugs within the past 3 months; 6. Having contraindications to MRI examination; 7. Having experienced infection, surgery, or major trauma within the past 4 weeks. Withdrawal/Dropout Criteria: 1. The subject withdraws informed consent; 2. The occurrence of serious adverse events; 3. Loss to follow-up; 4. Medication adherence that continued participation in \< 80%; 5. The researcher believes the study is not in the best interest of the subject. 2. Type 1 Diabetes Control Group Inclusion Criteria: 1. Meeting the diagnostic criteria for type 1 diabetes, with positive islet autoantibodies (GAD, IA-2, ICA, etc.); 2. Aged between 18 and 70 years; 3. Willing to participate and having signed the informed consent form.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Liver Fat Quantification | From enrollment to the end of treatment at 12 weeks | The degree of hepatic fat deposition is assessed using the Controlled Attenuation Parameter (CAP) value measured by FibroTouch ultrasound imaging. The CAP value, expressed in dB/m, indicates the severity of hepatic steatosis, with higher values reflecting more advanced fat accumulation in the live. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Blood biochemistry indicators | From enrollment to the end of treatment at 12 weeks | 1. Liver Function Tests (LFTs) Includes: Alanine aminotransferase (ALT), Aspartate aminotransferase (AST), Albumin (ALB), Total bilirubin (TBIL), etc. 2. Kidney Function Tests Includes: Blood urea nitrogen (BUN), Creatinine (Cr), Estimated glomerular filtration rate (eGFR), etc. 2\. Lipid Panel Includes (TG), High-density lipoprotein cholesterol (HDL-C), Low-density lipoprotein cholesterol (LDL-C), etc. 3\. Glucose Metabolism Markers Includes: Fasting blood glucose (FBG), Oral glucose tolerance test (OGTT), Glycated hemoglobin (HbA1c), etc. 4\. Pancreatic Islet Function Tests Includes: Fasting insulin, C-peptide, Glucose-stimulated insulin secretion test (e.g., after OGTT), etc. |
Countries
China
Contacts
CONTACTJing Lin
CONTACTXuebai Chen
STUDY_CHAIRRongfeng zhu
The 95th Hospital of Putian, Fujian , China
Outcome results
None listed