The role of PPAR-* in familial partial lipodystrophy

Conditions: familial fat storage disorder
Inherited disorder of abnormal fat distribution
10083624
10018424

Registration Number: NL-OMON34111

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 18

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

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

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Before and after 4 months of treatment with a PPARy agonist:<br /><br>1. Clinical features of FPLD: Weight, blood pressure, Skinfolds, Waist to hip<br /><br>ratio, Glucose, Insulin, Hba1c, HOMA-index, Liverfunction, Fatty acids,<br /><br>Intrahepatic triglyceride content measured by MRS, Fat mass measured by DEXA,<br /><br>LPL activity after heparin infusion<br /><br>2. Adipocytokine profile<br /><br>3. Peripheral blood monocyte expression profile<br /><br>4. Histological aspect of subcutaneous fat<br /><br>5. Gene expression profile of subcutaneous fat</p><br>

Secondary Outcome Measures