The LD Lync Study - Natural History Study of Genetic Lipodystrophy Syndromes

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 lipodystrophy syndromes. Patients will be assessed on a yearly basis for
approximately 4 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.