familial fat storage disorder Inherited disorder of abnormal fat distribution
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Cases 1.PPAR-* mutation 2.Medical ground for treatment with PPAR-* agonists 3.Given informed consent Healthy controls 1.Matched to cases for BMI, age and gender 2.Given informed consent Patients with type II diabetes 1.Matched to cases for BMI, age and gender 2.On insulin therapy 3.Given informed consent
Exclusion criteria
Exclusion criteria: Cases 1.current use of PAPR-y agonist 2.known adverse reactions to PPAR-* agonists All 1.Current use of the following medications: Heparin, or other blood diluting medication 2.Hepatic dysfunction 3.End stage renal disease 4.Pregnancy 5.History of bleeding or recent surgical intervention 6.Any other condition that in the opinion of the investigator would make the subject not eligible for participation in the trial
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Before and after 4 months of treatment with a PPARy agonist: 1. Clinical features of FPLD: Weight, blood pressure, Skinfolds, Waist to hip ratio, Glucose, Insulin, Hba1c, HOMA-index, Liverfunction, Fatty acids, Intrahepatic triglyceride content measured by MRS, Fat mass measured by DEXA, LPL activity after heparin infusion 2. Adipocytokine profile 3. Peripheral blood monocyte expression profile 4. Histological aspect of subcutaneous fat 5. Gene expression profile of subcutaneous fat | — |
Secondary
| Measure | Time frame |
|---|---|
| n.a | — |
Countries
Netherlands
Outcome results
None listed