Lipodystrophy (Genetic or Acquired, Non HIV) Clinical Trial
Official title:
Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
| NCT number | NCT03087253 |
| Other study ID # | HUM00127427 |
| Secondary ID | |
| Status | Recruiting |
| Phase | |
| First received | |
| Last updated | |
| Start date | February 27, 2018 |
| Est. completion date | March 2031 |
Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes, dyslipidemia and hepatic steatosis. Due to these metabolic problems, atherosclerotic vascular disease, recurrent episodes of acute pancreatitis, cirrhosis and other morbidities complicate the lives of these patients. In the last few years, several genes for CGL (AGPAT2, BSCL2, CAV1 and PTRF); FPL (LMNA, PPARG, AKT2, CIDEC, LIPE, PLIN1, PCYT1A and ADRA2A); MAD (LMNA and ZMPSTE24); APS (LMNA); autoinflammatory (PSMB8); NPS (FBN1, CAV1); SHORT syndrome (PIK3R1); and MDP syndrome (POLD1) have been identified. However, there is paucity of information about the natural history of these rare syndromes, especially genotype-specific causes of morbidity and mortality. To overcome the problems outlined above, this multicenter, collaborative, prospective, observational natural history cohort study will be conducted on approximately 500 patients with genetic or acquired lipodystrophy syndromes. Patients will be assessed on a yearly basis for approximately 5 to 7 years to collect robust clinical, metabolic, morbidity and mortality data. Medical history and patient questionnaires will be completed on a yearly basis by patients registered in the study. Clinical data such as vitals, laboratory results and anthropometric measurements will also be collected from patients' medical records if available.
| Status | Recruiting |
| Enrollment | 500 |
| Est. completion date | March 2031 |
| Est. primary completion date | March 2031 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility | Inclusion Criteria: - Clinical diagnosis of genetic lipodystrophy Supportive data: 1) Presence of biallelic known disease-causing variants in the genes for autosomal recessive lipodystrophy syndromes; 2) Presence of a known (or de novo loss of function) disease-causing variant in the genes for autosomal dominant lipodystrophy syndromes. Exclusion Criteria: - HIV-infected patients with lipodystrophy - Drug-induced lipodystrophy |
| Country | Name | City | State |
|---|---|---|---|
| Turkey | Dokuz Eylul University | Izmir | |
| United States | University of Michigan | Ann Arbor | Michigan |
| United States | National Institutes of Health | Bethesda | Maryland |
| Lead Sponsor | Collaborator |
|---|---|
| University of Michigan |
United States, Turkey,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Prevalence of diabetes mellitus | Number of subjects with diabetes mellitus or who develop diabetes mellitus | 4 years | |
| Secondary | Prevalence of severe hypertriglyceridemia | Number of subjects with severe hypertriglyceridemia (greater than 500 md/dL) or who develop severe hypertriglyceridemia | 4 years | |
| Secondary | Incidence of severe morbidities and causes of mortality | Incidence of severe morbidities (acute pancreatitis, congestive heart failure, cirrhosis, liver failure) and causes of mortality in subjects | 4 years |