Familial LCAT DeficiencyNCT04737720
Intravenous ACP-501 for Familial LCAT Deficiency (rhLCAT)
An observational study of Familial LCAT Deficiency, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
Background: High density lipoprotein (HDL), or good cholesterol, moves cholesterol from the artery walls back to the liver. A blood enzyme known as LCAT maintains HDL levels and helps it remove cholesterol from the body. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Familial LCAT Deficiency
- What is being tested?
- Recombinant LCAT
- Type of treatment
- Injection or infusion
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Jan 2013to 12 Dec 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Single patient
Who may be able to join
- Subject must meet all of the following inclusion criteria to be eligible for enrollment into the study:
- Greater than or equal to 18 years at screening;
- Confirmed FLD diagnosis through genotype confirmation of a LCAT mutation, as documented at screening or from previous testing;
- History of HDL-C < 15 mg/dL over the past year;
- Serum creatinine > 3 mg/dL;
- Increasing renal dysfunction resulting in ESRD;
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- Chronic concomitant medications must be stable for at least 2 weeks prior to screening (for example, lipid-altering drugs and/or ACE-inhibitors used for the treatment of FLD).
- Subject is willing and able to comply with scheduled study visits and is able to tolerate study procedures, including weekly to bi-weekly infusions over 1 year.
- Subject must be able to provide a personally-signed and dated informed consent document indicating that the subject has been informed of all pertinent aspects of the study.
- Subject may be currently on dialysis or require dialysis during the study
Who cannot join
- Subject will not be included in the study if he presents with any of the following:
- History of febrile illness within 5 days prior to dosing;
- Active non-basal cell cutaneous malignancy requiring surgery, chemotherapy, and/or radiation in the past 12 months.
- NOTE: Subjects with localized prostate cancer under a watchful-waiting treatment plan without evidence of disease progression in the past year may participate in the study if approved by the investigator and sponsor or designee.
- NOTE: Subjects diagnosed with basal cell carcinoma of the skin within the past 12 months must receive adequate treatment for their basal cell skin carcinoma prior to randomization.
- Current documented drug or alcohol abuse that would interfere with the subject s compliance with study procedures;
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- Treatment with an investigational drug within 28 days prior to dosing.
- Known hypersensitivity to heparin or IV infusion equipment, plastics, adhesive or silicone or known history of hypotension or infusion site reactions with IV administration.
- Other severe acute or chronic medical or psychiatric condition or laboratory abnormality that may increase the risk associated with trial participation or investigational product administration or may interfere with the interpretation of trial results and, in the judgment of the investigator, would make the subject inappropriate for entry into this trial or compromise the subject s ability to continue with the procedures of the trial.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Analysis of Samples Collected From a Subject Who Received ACP- 501 (Human Recombinant Lecithin:Cholesterol Acyltransferase [rhLCAT])
Background:
- High density lipoprotein (HDL), or good cholesterol, moves cholesterol from the artery walls back to the liver. A blood enzyme known as LCAT maintains HDL levels and helps it remove cholesterol from the body. Familial LCAT deficiency (FLD) is a genetic disease that results in low levels or total absence of LCAT. People with FLD often have kidney problems, and may develop kidney failure. Researchers think that the clinical problems of FLD can be prevented or even reversed by replacing the defective enzyme.
- There are no drugs that increase LCAT. It has to be artificially made and infused into the body. The artificial LCAT is called recombinant human LCAT, or ACP-501. Researchers want to see how well it works in one person with FLD and poor kidney function.
Read more
Objectives:
- To see whether ACP-501 can improve the symptoms of FLD.
Eligibility:
- One person (the study participant) with FLD.
Design:
- The participant will be screened with a physical exam and medical history. Blood samples will be collected.
- The participant will receive ACP-501 and remain in the hospital for 24 hours for regular blood tests. The participant may stay in the hospital or return for daily clinic visits until it is time for the next dose. The second dose will be given on Day 4 or Day 8.
- If an optimal dose has not yet been identified, a third dose will be given 7 days after the second dose.
- The participant will then go home, but must return to the hospital for ACP-501 infusions and blood tests every 1 or 2 weeks, as needed. Every 3 months, the participant will have a full clinic visit with blood tests and other studies.
Read the detailed description
This primary objective of the study was to use ACP-501 (recombinant LCAT - rhLCAT) as an Expanded Access Protocol in order for one named subject with Familial LCAT Deficiency (FLD) with the hope of slowing or preventing the progression of renal dysfunction and eliminating the need for dialysis. This was a first-in-human study of ACP-501 (rhLCAT) in a subject with FLD. The safety and tolerability of rhLCAT, was assessed after multiple infusions. The pharmacokinetics (PK) of rhLCAT and its effect on the pharmacodynamics (PD) of HDL-C and HDL subpopulations was also be assessed. The duration of the PK and PD parameters will inform future multiple dose studies with respect to dose (mg/kg) and dosing interval. The current protocol completed the primary objection and has shifted to the secondary analysis of samples that were collected. FLD is an extremely rare generic disorders and there are too few subjects to design additional phase 1 trials and these longitudinal samples demonstrating the appearance of normal HDL along with possible biomarkers will be helpful and can help guide the design of a small definitive phase II/II trial.
- Conditions
- Familial LCAT Deficiency
- Being tested
- Recombinant LCAT
- Keywords
- Recombinant LCAT, Natural History
- Medical subject headings
- Lecithin Cholesterol Acyltransferase Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Recombinant LCATDrug
iv infusion
| Study group | Role | What they receive |
|---|---|---|
| 1 | This is an expanded use protocol for a named subject. Receives: Drug: Recombinant LCAT |
What is being measured
The primary outcome is the main question the study is designed to answer.
HDL
Increased
Measured: weekly
Secondary outcomes (1)
LCAT
Increased
Measured: weekly
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Feb 2021
- Study start24 Jan 2013
- Primary completion12 Dec 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Familial LCAT DeficiencyStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The 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
- Other
- Time perspective
- Prospective
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Robert D Shamburek, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04737720
- Sponsor's protocol ID
- 130060
- Other IDs
- 13-H-0060
- Status last verified
- 9 Sep 2026
- First submitted
- 3 Feb 2021
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No: This is a single patient expanded access study.
Publications
Barter PJ. Hugh sinclair lecture: the regulation and remodelling of HDL by plasma factors. Atheroscler Suppl. 2002 Dec;3(4):39-47. doi: 10.1016/s1567-5688(02)00041-7.
PubMed 12573362Lee JY, Badeau RM, Mulya A, Boudyguina E, Gebre AK, Smith TL, Parks JS. Functional LCAT deficiency in human apolipoprotein A-I transgenic, SR-BI knockout mice. J Lipid Res. 2007 May;48(5):1052-61. doi: 10.1194/jlr.M600417-JLR200. Epub 2007 Feb 1.
PubMed 17272829Rousset X, Vaisman B, Amar M, Sethi AA, Remaley AT. Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease. Curr Opin Endocrinol Diabetes Obes. 2009 Apr;16(2):163-71. doi: 10.1097/med.0b013e328329233b.
PubMed 19306528
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analysis of Samples Collected From a Subject Who Received ACP- 501 (Human Recombinant Lecithin:Cholesterol Acyltransferase [rhLCAT])
- ClinicalTrials.gov ID
- NCT04737720
- Acronym / sponsor ID
- 130060
- Conditions
- Familial LCAT Deficiency
- Keywords
- Recombinant LCAT, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 24 Jan 2013 (actual)
- Primary completion
- 12 Dec 2013 (actual)
- First posted
- 4 Feb 2021 (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.
Background:
- High density lipoprotein (HDL), or good cholesterol, moves cholesterol from the artery walls back to the liver. A blood enzyme known as LCAT maintains HDL levels and helps it remove cholesterol from the body. Familial LCAT deficiency (FLD) is a genetic disease that results in low levels or total absence of LCAT. People with FLD often have kidney problems, and may develop kidney failure. Researchers think that the clinical problems of FLD can be prevented or even reversed by replacing the defective enzyme.
- There are no drugs that increase LCAT. It has to be artificially made and infused into the body. The artificial LCAT is called recombinant human LCAT, or ACP-501. Researchers want to see how well it works in one person with FLD and poor kidney function.
Objectives:
- To see whether ACP-501 can improve the symptoms of FLD.
Eligibility:
- One person (the study participant) with FLD.
Design:
- The participant will be screened with a physical exam and medical history. Blood samples will be collected.
- The participant will receive ACP-501 and remain in the hospital for 24 hours for regular blood tests. The participant may stay in the hospital or return for daily clinic visits until it is time for the next dose. The second dose will be given on Day 4 or Day 8.
- If an optimal dose has not yet been identified, a third dose will be given 7 days after the second dose.
- The participant will then go home, but must return to the hospital for ACP-501 infusions and blood tests every 1 or 2 weeks, as needed. Every 3 months, the participant will have a full clinic visit with blood tests and other studies.
Detailed description
This primary objective of the study was to use ACP-501 (recombinant LCAT - rhLCAT) as an Expanded Access Protocol in order for one named subject with Familial LCAT Deficiency (FLD) with the hope of slowing or preventing the progression of renal dysfunction and eliminating the need for dialysis. This was a first-in-human study of ACP-501 (rhLCAT) in a subject with FLD. The safety and tolerability of rhLCAT, was assessed after multiple infusions. The pharmacokinetics (PK) of rhLCAT and its effect on the pharmacodynamics (PD) of HDL-C and HDL subpopulations was also be assessed. The duration of the PK and PD parameters will inform future multiple dose studies with respect to dose (mg/kg) and dosing interval. The current protocol completed the primary objection and has shifted to the secondary analysis of samples that were collected. FLD is an extremely rare generic disorders and there are too few subjects to design additional phase 1 trials and these longitudinal samples demonstrating the appearance of normal HDL along with possible biomarkers will be helpful and can help guide the design of a small definitive phase II/II trial.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | Drug: Recombinant LCATThis is an expanded use protocol for a named subject. |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Single patient
Key inclusion criteria (10 listed)
- Subject must meet all of the following inclusion criteria to be eligible for enrollment into the study:
- Greater than or equal to 18 years at screening;
- Confirmed FLD diagnosis through genotype confirmation of a LCAT mutation, as documented at screening or from previous testing;
- History of HDL-C < 15 mg/dL over the past year;
- Serum creatinine > 3 mg/dL;
Key exclusion criteria (9 listed)
- History of febrile illness within 5 days prior to dosing;
- Active non-basal cell cutaneous malignancy requiring surgery, chemotherapy, and/or radiation in the past 12 months.
- NOTE: Subjects with localized prostate cancer under a watchful-waiting treatment plan without evidence of disease progression in the past year may participate in the study if approved by the investigator and sponsor or designee.
- NOTE: Subjects diagnosed with basal cell carcinoma of the skin within the past 12 months must receive adequate treatment for their basal cell skin carcinoma prior to randomization.
- Current documented drug or alcohol abuse that would interfere with the subject s compliance with study procedures;
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 |
|---|---|---|
| Recombinant LCATiv infusion | Drug | 1 |
Primary outcome
HDL
Time frame: weekly
Increased
1 secondary outcome
LCAT
Time frame: weekly
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Background: PubMed 12573362Barter PJ. Hugh sinclair lecture: the regulation and remodelling of HDL by plasma factors. Atheroscler Suppl. 2002 Dec;3(4):39-47. doi: 10.1016/s1567-5688(02)00041-7.
- Background: PubMed 17272829Lee JY, Badeau RM, Mulya A, Boudyguina E, Gebre AK, Smith TL, Parks JS. Functional LCAT deficiency in human apolipoprotein A-I transgenic, SR-BI knockout mice. J Lipid Res. 2007 May;48(5):1052-61. doi: 10.1194/jlr.M600417-JLR200. Epub 2007 Feb 1.
- Background: PubMed 19306528Rousset X, Vaisman B, Amar M, Sethi AA, Remaley AT. Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease. Curr Opin Endocrinol Diabetes Obes. 2009 Apr;16(2):163-71. doi: 10.1097/med.0b013e328329233b.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No. This is a single patient expanded access study.
Related trials for Familial LCAT Deficiency
RecruitingObservational study
LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
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. This study is not recruiting at the moment.
Robert D Shamburek, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
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 Familial LCAT Deficiency, run by National Heart, Lung, and Blood Institute (NHLBI) 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 10 inclusion and 9 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: finished, as of the sponsor's last update on 5 Nov 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
HDL (time frame: weekly). 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 NCT04737720, which also lists 3 linked publications.
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 5 Nov 2026.