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The LD Lync Study - Natural History Study of Lipodystrophy Syndromes

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ClinicalTrials.gov Identifier: NCT03087253
Recruitment Status : Recruiting
First Posted : March 22, 2017
Last Update Posted : February 14, 2023
Sponsor:
Information provided by (Responsible Party):
Elif Oral, University of Michigan

Study Description
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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
Lipodystrophy (Genetic or Acquired, Non HIV)

Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 8 Years
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 : February 27, 2018
Estimated Primary Completion Date : March 2031
Estimated Study Completion Date : March 2031
Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Prevalence of diabetes mellitus [ Time Frame: 4 years ]
    Number of subjects with diabetes mellitus or who develop diabetes mellitus


Secondary Outcome Measures :
  1. Prevalence of severe hypertriglyceridemia [ Time Frame: 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 [ Time Frame: 4 years ]
    Incidence of severe morbidities (acute pancreatitis, congestive heart failure, cirrhosis, liver failure) and causes of mortality in subjects


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a clinical diagnosis of genetic lipodystrophy
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03087253


Contacts
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Contact: Adam Neidert, M.S. 734-615-0539 aneidert@med.umich.edu
Contact: Elif Oral, M.D. 734-615-7271 eliforal@med.umich.edu

Locations
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United States, Maryland
National Institutes of Health Recruiting
Bethesda, Maryland, United States, 20892
Contact: Rebecca Brown, MD    301-594-0609    brownrebecca@niddk.nih.gov   
Contact: Michelle Ashmus       michelle.ashmus@nih.gov   
United States, Michigan
University of Michigan Recruiting
Ann Arbor, Michigan, United States, 48105
Contact: Adam H Neidert, MS    734-615-0539    aneidert@med.umich.edu   
Contact: Elif A Oral, MD    734-615-7271    eliforal@med.umich.edu   
Principal Investigator: Elif A Oral, MD         
Sub-Investigator: Nevin N Ajluni, MD         
Turkey
Dokuz Eylul University Recruiting
İzmir, Turkey, 35380
Contact: Baris Akinci, MD    90 552 6001789    barisakincimd@gmail.com   
Contact: Merve Celik, MD    90 537 5630430    mdmervecelik@gmail.com   
Sponsors and Collaborators
University of Michigan
Investigators
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Principal Investigator: Elif A Oral, MD Professor of Medicine
More Information
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Additional Information:

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Responsible Party: Elif Oral, Professor of Medicine, University of Michigan
ClinicalTrials.gov Identifier: NCT03087253    
Other Study ID Numbers: HUM00127427
First Posted: March 22, 2017    Key Record Dates
Last Update Posted: February 14, 2023
Last Verified: February 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Lipodystrophy
Skin Diseases, Metabolic
Skin Diseases
Lipid Metabolism Disorders
Metabolic Diseases