Recruiting

Observational Study

Sponsor:

University of Michigan

Code:

NCT03087253

Conditions

Lipodystrophy (Genetic or Acquired, Non HIV)

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Lipodystrophy (Genetic or Acquired, Non HIV)

Study ID

NCT03087253

Start date

Feb 27, 2018

Status verified date

Mar, 2026

Completion date

Mar, 2034

Anticipated

Primary completion date

Mar, 2034

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Clinical diagnosis of genetic or acquired 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; or 3) Clinical supportive data based on morphological criteria together with metabolic abnormalities.

Exclusion Criteria:

  • HIV-infected patients with lipodystrophy
  • Drug-induced lipodystrophy

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Prevalence of diabetes mellitus [ Time Frame: 4 years ]

Central Contacts and Locations

Central contacts

Adam Neidert, M.S.

734-615-0539aneidert@med.umich.edu

Elif Oral, M.D.

734-615-7271eliforal@med.umich.edu

Locations

National Institutes of Health

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

Rebecca Brown, MD

301-594-0609brownrebecca@niddk.nih.gov

Michelle Ashmus

michelle.ashmus@nih.gov

University of Michigan

Recruiting

Ann Arbor, Michigan, United States, 48105

Contacts

Adam H Neidert, MS

734-615-0539aneidert@med.umich.edu

Elif A Oral, MD

734-615-7271eliforal@med.umich.edu

Principal Investigator:

Elif A Oral, MD

More Information

Sponsor

University of Michigan

Last update posted

Mar 19, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Michigan on 2026-03-19.