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LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study

Recruitingn/aAges any - anyAllUniversity of Pennsylvania
NCT06217588 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 understand the natural history of disease of LCAT deficiency. Study staff will collect information from previous clinical visits such as lab tests, physical exam findings, renal and cardiovascular imaging, findings from kidney biopsies and eye exams, and medication and other treatments. As part of this study the investigators are asking participants permission to reach out to their doctors to obtain medical records and stored samples (such as serum or plasma or biopsies) from past visits. Participa

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📋 Eligibility rules (as published)
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
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What it tests

  • Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.
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Where

1 site
University of Pennsylvania
Philadelphia, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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