LCAT DeficiencyLCAT NHSNCT06217588
LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
An observational study of LCAT Deficiency, run by University of Pennsylvania at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- LCAT Deficiency
- What is being tested?
- Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Aug 2022to Aug 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Gregory Alfaro, 215-662-2902, greg.alfaro@pennmedicine.upenn.edu
Marina Cuchel, MD, PhD
About this study
Official title: LCAT Deficiency Disorders: Natural History and Identification of Biomarkers
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.
Read more
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
- Being tested
- Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.
- 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
- Medical subject headings
- Lecithin Cholesterol Acyltransferase Deficiency, Kidney Diseases, Cardiovascular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Reaching 40 Patients
Outreach efforts will be made to reach a total of study 40 participants
Measured: Through study completion, an average of 4 years
Mean Age of Diagnosis
The investigators will determine the mean age of diagnosis of LCAT Deficiency
Measured: 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
Measured: Through study completion, an average of 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jan 2024
- Study start12 Aug 2022
- Primary completionAug 2027 (estimated)
- Study completionAug 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for LCAT DeficiencyStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marina Cuchel, MD, PhD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06217588
- Sponsor's protocol ID
- 833871
- Acronym
- LCAT NHS
- Status last verified
- May 2026
- First submitted
- 4 Jan 2024
- Last updated
- 6 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 35065092
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- LCAT Deficiency Disorders: Natural History and Identification of Biomarkers
- ClinicalTrials.gov ID
- NCT06217588
- Acronym / sponsor ID
- LCAT NHS / 833871
- 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)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Study start
- 12 Aug 2022 (actual)
- Primary completion
- Aug 2027 (estimated)
- Study completion
- Aug 2028 (estimated)
- First posted
- 22 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- Males or Females of any age
- Subjects with:
- 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.
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.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. | Other | – |
Primary outcome
Reaching 40 Patients
Time frame: Through study completion, an average of 4 years
Outreach efforts will be made to reach a total of study 40 participants
Mean Age of Diagnosis
Time frame: Through study completion, an average of 4 years
The investigators will determine the mean age of diagnosis of LCAT Deficiency
Average time to develop CKD (Chronic Kidney Disease)
Time frame: Through study completion, an average of 4 years
The investigators will assess the average time it takes to develop chronic kidney disease
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
- Background: PubMed 35065092Vitali 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.
- Individual participant dataSharing planned: No
Related trials for LCAT Deficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Marina Cuchel, MD, PhD principal investigator
University of Pennsylvania
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of LCAT Deficiency, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marina Cuchel, MD, PhD (2156627188, mcuchel@pennmedicine.upenn.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Reaching 40 Patients (time frame: Through study completion, an average of 4 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06217588, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2026.