Clinical research for auto-transplantation of lcat-gene transduced preadipocytes in patients with familial lecithin-cholesterol acyltransferase (LCAT) deficiency (Clinical research for auto-transplantation of lcat-gene transduced preadipocytes in patients with familial lecithin-cholesterol acyltransferase (LCAT) deficiency)

Completed

• Conditions: Familial LCAT deficiency

• Registration Number: jRCTa030190230

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2017-01-25
• Study First Submitted: 2020-02-27
• Last Update Posted: 2023-12-28

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 3

Inclusion Criteria

1. Patients who are determined to be suffering from familial LCAT deficiency based on the following diagnosis criteria.
   (1) Patient with LCAT genetic abnormality, as determined by a genetic diagnosis (test) (Excluding, however, patients in which LCAT Full length proteins are not expressed due to occurrence of termination codon or frame shift mutation).
   (2) Patients present low HDL-cholesterol levels with one or some of following manifestation, Corneal opacity, Renal dysfunction (proteinuria), Hemolytic anemia.
   (3) Plasma (or serum) LCAT activity is lower than the standard minimum limit.
2. Patients whose poor quality of life and prognosis are predicted due to clinical symptoms (especially corneal opacity and renal dysfunction) .
3. Patients older than 16.
4. Patient who provides written informed consent. If the patient is a minor, written consent must be obtained from the patient as well as a parent or guardian.

Exclusion Criteria

1. Patients that show no LCAT full length protein variation and/or patients in which LCAT proteins are not detected in the blood.
2. Patients with concomitant acute liver disease as a result of lipid metabolism (Acute hepatitis, cirrhosis of the liver) or kidney disease.
3. Mal- or undernourished, or suffering from a nutritional disorder such as Cachexia.
4. Will undergo a blood and/or plasma transfusion within one month prior receiving LCAT replacement therapy.
5. Patients testing positive for severe viral infection (Hepatitis B, Hepatitis C, HIV, Adult T-cell leukemia, Parvovirus B19, or Syphilis)
6. Liposuction surgery deemed too challenging to undergo.
7. Women who are pregnant, nursing, or could become pregnant
8. Patients suffering from an illness that leads to low blood cholesterol other than LCAT deficiency (ApoA-1 hypercholesterolemia, Tangier disease)
9. Patients determined ineligible by the principal-investigator and co-investigator in charge for any reason.

Study & Design

• Study Type: Interventional
• Study Design: single assignment

Primary Outcome Measures

Name	Time	Method
adverse event(s)		evaluate adverse event(s) of LCAT replacement by auto-transplantation of lcat-gene transduced preadipocytes

Secondary Outcome Measures

Name	Time	Method
Plasma (or serum) LCAT activity		Effects of LCAT replacement on Plasma (or serum) LCAT activity
HDL-cholesterol		Effects of LCAT replacement on HDL-cholesterol
renal manifestation		Effects of LCAT replacement on renal manifestation
visual impairment		Effects of LCAT replacement on visual impairment
corneal opacity		Effects of LCAT replacement on corneal opacity
anemia		Effects of LCAT replacement on anemia
cholesteryl ester/total cholesterol ratio		Effects of LCAT replacement on cholesteryl ester/total cholesterol ratio