The LD Lync Study - Natural History Study of Lipodystrophy Syndromes

Recruiting now

Conditions studied: Lipodystrophy (Genetic or Acquired, Non HIV)

In brief

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.

Key facts

Study ID

NCT03087253

Run by

University of Michigan

People needed

500

Starts

2018-02-27

Expected to finish

2034-03-01

Last updated by the study team

2026-03-19

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

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

Where it is running

• National Institutes of Health — Bethesda, Maryland, United States (enrolling)
• University of Michigan — Ann Arbor, Michigan, United States (enrolling)
• Federal University of Ceará — Fortaleza, Ceará, Brazil (enrolling)
• Izmir Biomedicine and Genome Center — Izmir, Turkey (Türkiye) (enrolling)

Full record on ClinicalTrials.gov

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