Natural history study of LCAT deficiency
Official title: LCAT Deficiency Disorders: Natural History and Identification of Biomarkers
Run by University of Pennsylvania · NCT06217588 · Data updated 2026-11-12
This study is looking to find people with LCAT gene mutations to learn more about their health history and how the condition affects them over time.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 40 (estimated) |
| Sponsor | University of Pennsylvania Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Status | Recruiting |
| Started | August 12, 2022 |
| Main results expected | August 2027 |
| Study ends | August 2028 |
| Registry record updated | May 6, 2026 |
| Trial ID | NCT06217588 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with primary LCAT deficiency or those with genetically confirmed mutations in the LCAT gene.
✕Probably not a fit
Patients with secondary causes of LCAT deficiency or other medical conditions that may affect study participation may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The LCAT Natural History Study aims to identify individuals with mutations in the LCAT gene and gather comprehensive data on their medical history and disease progression. Researchers will collect information from past clinical visits, including lab tests, imaging results, and treatment histories, to better understand the natural history of LCAT deficiency. Participants may also engage in a web-based portal to complete surveys on patient outcomes. This observational study will help healthcare providers assess clinical features and biomarkers associated with the disease.
Why it matters
Potential benefit: If successful, this study could enhance understanding of LCAT deficiency and improve patient management strategies.
How similar studies have gone: While this study focuses on the natural history of LCAT deficiency, similar observational studies have successfully contributed to understanding rare genetic disorders.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Males or Females of any age 2. Subjects with: 1. a diagnosis of primary LCAT deficiency based on investigator assessment or laboratory results AND/OR 2. a genetically confirmed mutation in the LCAT gene who are homozygous or compound heterozygous for LCAT loss-of-function mutations 3. Subjects or their legal guardian must be able to comprehend and be willing to provide a signed institutional review board/ethics committee (IRB/EC) approved Informed Consent Form. A waiver of consent will be requested for deceased patients, as determined by local regulatory requirements. Exclusion Criteria: 1. Secondary causes of LCAT deficiency 2. Any other medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data
Where it's running
-
University of Pennsylvania
Philadelphia, Pennsylvania, United States Recruiting
Study contacts
- Principal investigator: Marina Cuchel, MD, PhD — University of Pennsylvania
- Study coordinator: Marina Cuchel, MD, PhD
- Email: mcuchel@pennmedicine.upenn.edu
- Phone: 2156627188
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.