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The LD Lync Study - Natural History Study of Lipodystrophy Syndromes

Sponsor
University of Michigan (Other)
Overall Status
Recruiting
CT.gov ID
NCT03087253
Collaborator
(none)
500
Enrollment
3
Locations
108.1
Anticipated Duration (Months)
166.7
Patients Per Site
1.5
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    500 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
    Actual Study Start Date :
    Feb 27, 2018
    Anticipated Primary Completion Date :
    Mar 1, 2027
    Anticipated Study Completion Date :
    Mar 1, 2027

    Outcome Measures

    Primary Outcome Measures

    1. Prevalence of diabetes mellitus [4 years]

      Number of subjects with diabetes mellitus or who develop diabetes mellitus

    Secondary Outcome Measures

    1. Prevalence of severe hypertriglyceridemia [4 years]

      Number of subjects with severe hypertriglyceridemia (greater than 500 md/dL) or who develop severe hypertriglyceridemia

    2. Incidence of severe morbidities and causes of mortality [4 years]

      Incidence of severe morbidities (acute pancreatitis, congestive heart failure, cirrhosis, liver failure) and causes of mortality in subjects

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 National Institutes of Health Bethesda Maryland United States 20892
    2 University of Michigan Ann Arbor Michigan United States 48105
    3 Dokuz Eylul University İzmir Turkey 35380

    Sponsors and Collaborators

    • University of Michigan

    Investigators

    • Principal Investigator: Elif A Oral, MD, Professor of Medicine

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Elif Oral, Professor of Medicine, University of Michigan
    ClinicalTrials.gov Identifier:
    NCT03087253
    Other Study ID Numbers:
    • HUM00127427
    First Posted:
    Mar 22, 2017
    Last Update Posted:
    Apr 25, 2022
    Last Verified:
    Apr 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    Undecided
    Plan to Share IPD:
    Undecided
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Lipodystrophy

    Study Results

    No Results Posted as of Apr 25, 2022