LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study

Recruiting Observational Study
LCAT Deficiency
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
40 (estimated)
Sponsor
University of Pennsylvania · Other
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About This Trial
The purpose of the LCAT (Lecithin cholesterol acyl transferase) Natural History Study (LCAT NHS) is to help identify people with a mutation in a gene called LCAT, collect and store information about their medical history and disease course, and to assess for associations and follow changes in clinical features and biomarkers of disease. This information will help health care providers better under…
Trial Locations
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Eligibility 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-funct…
Contacts

Marina Cuchel, MD, PhD

2156627188

mcuchel@pennmedicine.upenn.edu

CONTACT

Gregory Alfaro

2156622902

greg.alfaro@pennmedicine.upenn.edu

CONTACT