Natural history study of LCAT deficiency

LCAT Deficiency Disorders: Natural History and Identification of Biomarkers

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
• Enrollment: 40 (estimated)
• Sex: All
• Sponsor: University of Pennsylvania (Academic / other)
• Locations: 1 site (Philadelphia, Pennsylvania)
• Trial ID: NCT06217588 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with primary LCAT deficiency or those with genetically confirmed mutations in the LCAT gene.

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.

Why it matters

Potential benefit: If successful, this study could enhance understanding of LCAT deficiency and improve patient management strategies.

How similar studies have performed: While this study focuses on the natural history of LCAT deficiency, similar observational studies have successfully contributed to understanding rare genetic disorders.

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

Where this trial is running

Philadelphia, Pennsylvania

• 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

Conditions LCAT Deficiency; Renal Disease; Familial LCAT Deficiency; FLD; Fish Eye Disease; FED; Lipoprotein X; LpX