Gene/cell therapy for familial LCAT deficiency by auto-transplantation of lcat-gene transduced preadipocytes

Phase 1

• Conditions: Familial LCAT deficiency; cholesterol, High-density lipoprotein, Corneal opacity, Renal failure, Hemolytic anemia

• Registration Number: JPRN-jRCTa030190230
• Lead Sponsor: Yokote Koutaro

Brief Summary

This study was discontinued after only one case, due to a change in the development policy to move to clinical trials for the practical use. Post-administration pain was recognized but no abnormalities were observed. Blood LCAT activity was sustained. Abnormal lipoproteins and hemoglobin-haptoglobin complex associated with anemia were decreased, suggesting sustained LCAT supplementation. There were no serious safety concerns in at least one patient, and the results suggested the efficacy of the treatment.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-02-27
• Study Completion: 2021-10-06
• Results First Posted: 2022-11-01
• Last Update Posted: 1 April 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 1

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: Not specified