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The LD Lync Study - Natural History Study of Lipodystrophy Syndromes

Recruitingn/aAges any - anyAllUniversity of Michigan
NCT03087253 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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,

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

4 sites
National Institutes of Health
Bethesda, United States
University of Michigan
Ann Arbor, United States
Federal University of Ceará
Fortaleza, Brazil
Izmir Biomedicine and Genome Center
Izmir, Turkey (Türkiye)
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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