LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study

NCT06217588 | Recruiting

• 1 other identifier: 833871
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

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. Participants may also be asked to join a web-based patient portal to complete a patient-outcomes survey. As part of this study, participants will also be asked to do the following things at different times:

• Answer questions about:
• Demographic information (year of birth, age, gender, race/ethnicity, country)
• LCAT deficiency diagnosis such as year of diagnosis, type of diagnosis (clinical, genetic), genotype information/LCAT mutation status
• Medical history and family history and any updates
• A review of medications If participants are able to come to a study visit in person the following may happen: Physical examination including vital signs (height, weight, blood pressure, and heart rate) Urine and blood samples for laboratory testing. participants will be required to fast for 10 hours before the blood tests. A small blood sample may also be taken 2-4 hours after a meal.
• The following will be tested: the different types of cholesterol and other fats in the blood (lipids), standard hematology (type and number of blood cells), blood chemistries such as sodium, potassium, and calcium, thyroid function, liver panel (function of the liver), kidney function and the level of protein in urine
• Blood and urine samples may also be stored for future testing
• Genetic material will be collected
• Blood cells may be stored for future research
• Participants will have approximately 4.5 tablespoons of blood drawn annually.
• If not done previously, participants will complete an eye exam.
• Participants may be seen by a doctor specialized in renal disease

Conditions

LCAT Deficiency

Keywords

Renal Disease; LCAT Deficiency; Familial LCAT Deficiency; FLD (Familial LCAT Deficiency); Fish Eye Disease; FED (Fish Eye Disease); Lipoprotein X; LpX (Lipoprotein X); Cardiovascular Disease

Outcome Measures

Primary Outcomes (3)

• Reaching 40 Patients

  Outreach efforts will be made to reach a total of study 40 participants

  Through study completion, an average of 4 years

• Mean Age of Diagnosis

  The investigators will determine the mean age of diagnosis of LCAT Deficiency

  Through study completion, an average of 4 years

• Average time to develop CKD (Chronic Kidney Disease)

  The investigators will assess the average time it takes to develop chronic kidney disease

  Through study completion, an average of 4 years

Interventions

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

The study will collect extensive historical health data (retrospective), and at baseline will conduct an extensive characterization of the disease progression using the parameters described above.

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The registry aims to include data on any patients diagnosed with LCAT deficiency. This includes both patients that have been diagnosed on the basis of genetic analysis and patients that in the opinion of their physician meet the clinical criteria for a diagnosis of LCAT deficiency.

You may qualify if:

• Males or Females of any age
• Subjects with:
• a diagnosis of primary LCAT deficiency based on investigator assessment or laboratory results AND/OR
• a genetically confirmed mutation in the LCAT gene who are homozygous or compound heterozygous for LCAT loss-of-function mutations
• 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.

You may not qualify if:

• Secondary causes of LCAT deficiency
• 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

Sponsors & Collaborators

• University of Pennsylvania: lead

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Related Publications (1)

• Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M. A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency. J Lipid Res. 2022 Mar;63(3):100169. doi: 10.1016/j.jlr.2022.100169. Epub 2022 Jan 20.

  PMID: 35065092 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood (whole blood, PBMC (peripheral blood mononuclear cells), plasma and serum), urine and, when available, histologic samples

MeSH Terms

Conditions

Lecithin Cholesterol Acyltransferase Deficiency; Kidney Diseases; Cardiovascular Diseases

Interventions

Demography; Genotype

Condition Hierarchy (Ancestors)

Hypoalphalipoproteinemias; Hypolipoproteinemias; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases

Intervention Hierarchy (Ancestors)

Population Characteristics; Epidemiologic Measurements; Public Health; Environment and Public Health; Genetic Phenomena

Study Officials

• Marina Cuchel, MD, PhD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Cuchel, MD, PhD

CONTACT

2156627188; mcuchel@pennmedicine.upenn.edu

Gregory Alfaro

CONTACT

2156622902; greg.alfaro@pennmedicine.upenn.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 4, 2024
• First Posted: January 22, 2024
• Study Start: August 12, 2022
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2028
• Last Updated: May 6, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)