LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study

Launched by UNIVERSITY OF PENNSYLVANIA · Jan 18, 2024

Keywords

ClinConnect Summary

The LCAT Natural History Study is a clinical trial aimed at understanding LCAT deficiency, a condition caused by a mutation in the LCAT gene that affects cholesterol processing in the body. The study is looking for participants of any age who have either been diagnosed with LCAT deficiency or have a confirmed genetic mutation related to this condition. By gathering detailed medical histories, lab results, and other health information, researchers hope to learn more about how this disease progresses and its associated features.

Participants in the study will be asked to provide information about their health, medications, and family history. If they choose to participate in person, they will undergo a physical exam, provide blood and urine samples for testing, and possibly have an eye exam. The study may also involve collecting previously stored samples and medical records. Overall, this research aims to help doctors better understand LCAT deficiency and improve care for those affected by it.

Gender

ALL

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-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