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Trial record 2 of 6 for:    LIPE

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03087253
Recruitment Status : Recruiting
First Posted : March 22, 2017
Last Update Posted : April 2, 2019
Information provided by (Responsible Party):
Elif Oral, University of Michigan

Tracking Information
First Submitted Date March 16, 2017
First Posted Date March 22, 2017
Last Update Posted Date April 2, 2019
Actual Study Start Date February 27, 2018
Estimated Primary Completion Date March 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 16, 2017)
Prevalence of diabetes mellitus [ Time Frame: 4 years ]
Number of subjects with diabetes mellitus or who develop diabetes mellitus
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03087253 on Archive Site
Current Secondary Outcome Measures
 (submitted: March 16, 2017)
  • Prevalence of severe hypertriglyceridemia [ Time Frame: 4 years ]
    Number of subjects with severe hypertriglyceridemia (greater than 500 md/dL) or who develop severe hypertriglyceridemia
  • Incidence of severe morbidities and causes of mortality [ Time Frame: 4 years ]
    Incidence of severe morbidities (acute pancreatitis, congestive heart failure, cirrhosis, liver failure) and causes of mortality in subjects
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title The LD Lync Study - Natural History Study of Genetic Lipodystrophy Syndromes
Official Title Prospective Multicenter Natural History Study of Genetic Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
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 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.

Detailed Description Not Provided
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 4 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with a clinical diagnosis of genetic lipodystrophy
Condition Lipodystrophy (Genetic or Acquired, Non HIV)
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: March 16, 2017)
Original Estimated Enrollment Same as current
Estimated Study Completion Date March 2023
Estimated Primary Completion Date March 2022   (Final data collection date for primary outcome measure)
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
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contact: Adam Neidert, M.S. 734-615-0539
Contact: Elif Oral, M.D. 734-615-7271
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT03087253
Other Study ID Numbers HUM00127427
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Elif Oral, University of Michigan
Study Sponsor University of Michigan
Collaborators Not Provided
Principal Investigator: Elif A Oral, MD Associate Professor of Medicine
PRS Account University of Michigan
Verification Date March 2019