Clinical trial NCT03087253: The LD Lync Study - Natural History Study of Lipodystrophy Syndromes
Official title: Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Lipodystrophy (Genetic or Acquired, Non HIV)
Lead sponsor: University of Michigan
Sponsor class: OTHER
First posted: 2017-03-22
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a clinical diagnosis of genetic lipodystrophy

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.


Eligibility criteria: 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

Primary outcomes:
measure: Prevalence of diabetes mellitus
timeFrame: 4 years
Secondary outcomes:
measure: Prevalence of severe hypertriglyceridemia
timeFrame: 4 years
measure: Incidence of severe morbidities and causes of mortality
timeFrame: 4 years
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Institutes of Health
state: Maryland
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: İzmir
country: Turkey
facility: Dokuz Eylul University
Study officials:
affiliation: Professor of Medicine
name: Elif A Oral, MD
role: PRINCIPAL_INVESTIGATOR
References: