NCT03087253Recruiting
The LD Lync Study - Natural History Study of Lipodystrophy Syndromes
Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
Source: ClinicalTrials.gov · Last updated 19 Mar 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 500 (estimated)
- First submitted
- 16 Mar 2017
- Start date
- 27 Feb 2018
- Primary completion date
- 31 Mar 2034
- Lead sponsor
- University of Michigan
- Diseases
- HIV
- NCT number
- NCT03087253
What you commit to
- Study type: Observational
- Planned participants: 500
- From 27 Feb 2018 to the primary completion date, 31 Mar 2034
- 4 sites in 3 countries
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Drug-induced lipodystrophy
Other illness
- HIV-infected patients with lipodystrophy
Who the study is looking for
- Clinical diagnosis of genetic or acquired 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; or 3) Clinical supportive data based on morphological criteria together with metabolic abnormalities.
Sex: All · Does not accept healthy volunteers
Sites (4)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Federal University of Ceará Coordinator of this site? Confirm its status | Fortaleza | Brazil | Recruiting |
| University of Michigan Coordinator of this site? Confirm its status | Ann Arbor | United States | Recruiting |
| National Institutes of Health Coordinator of this site? Confirm its status | Bethesda | United States | Recruiting |
| Izmir Biomedicine and Genome Center Coordinator of this site? Confirm its status | Izmir | Turkey (Türkiye) | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.