NCT06217588 LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
| NCT ID | NCT06217588 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Pennsylvania |
| Condition | LCAT Deficiency |
| Study Type | OBSERVATIONAL |
| Enrollment | 40 participants |
| Start Date | 2022-08-12 |
| Primary Completion | 2027-08 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 40 participants in total. It began in 2022-08-12 with a primary completion date of 2027-08.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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
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
Contact & Investigator
Marina Cuchel, MD, PhD
PRINCIPAL INVESTIGATOR
University of Pennsylvania
Frequently Asked Questions
Who can join the NCT06217588 clinical trial?
This trial is open to participants of all sexes, studying LCAT Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06217588 currently recruiting?
Yes, NCT06217588 is actively recruiting participants. Contact the research team at mcuchel@pennmedicine.upenn.edu for enrollment information.
Where is the NCT06217588 trial being conducted?
This trial is being conducted at Philadelphia, United States.
Who is sponsoring the NCT06217588 clinical trial?
NCT06217588 is sponsored by University of Pennsylvania. The principal investigator is Marina Cuchel, MD, PhD at University of Pennsylvania. The trial plans to enroll 40 participants.