Natural history of genetic lipodystrophy syndromes
Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
University of Michigan · NCT03087253
This study looks at how genetic lipodystrophy syndromes affect people's health over time to better understand the causes and challenges faced by those living with these rare conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | University of Michigan (other) |
| Locations | 4 sites (Bethesda, Maryland and 3 other locations) |
| Trial ID | NCT03087253 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding the natural history of genetic lipodystrophy syndromes, which are rare disorders characterized by the selective loss of adipose tissue and associated metabolic complications. The study aims to gather data on the genotype-specific causes of morbidity and mortality in patients diagnosed with these syndromes. By collecting and analyzing clinical data, the study seeks to fill the knowledge gap regarding the progression and impact of these conditions on patients' health. The research is being conducted at multiple locations, including the University of Michigan and the National Institutes of Health.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a clinical diagnosis of genetic lipodystrophy and confirmed disease-causing genetic variants.
Not a fit: Patients with HIV-related lipodystrophy or drug-induced lipodystrophy will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights that lead to improved management and treatment strategies for patients with lipodystrophy syndromes.
How similar studies have performed: While there is limited information on the natural history of these rare syndromes, the study aims to build on existing genetic knowledge, making it a novel approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. Exclusion Criteria: * HIV-infected patients with lipodystrophy * Drug-induced lipodystrophy
Where this trial is running
Bethesda, Maryland and 3 other locations
- National Institutes of Health — Bethesda, Maryland, United States (RECRUITING)
- University of Michigan — Ann Arbor, Michigan, United States (RECRUITING)
- Federal University of Ceará — Fortaleza, Ceará, Brazil (RECRUITING)
- Izmir Biomedicine and Genome Center — Izmir, Turkey (Türkiye) (RECRUITING)
Study contacts
- Principal investigator: Elif A Oral, MD — Professor of Medicine
- Study coordinator: Adam Neidert, M.S.
- Email: aneidert@med.umich.edu
- Phone: 734-615-0539
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Lipodystrophy