Familial LCAT deficiency
Conditions
Sponsors
Chiba university Chiba University hospital, Division of Diabetes, Metabolism and Endocrinology
CellGenTech, Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients who are determined to be suffering from familial LCAT deficiency based on the following diagnosis criteria: 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) Patients present low HDL-cholesterol levels with one or some of following manifestation: Corneal opacity, Renal dysfunction (proteinuria), Hemolytic anemia Plasma (or serum) LCAT activity (as determined by a Sekisui Medical Anasolv LCAT kit) is lower than the standard minimum limit (Standard value is 235-550 U.) Patients whose poor quality of life and prognosis are predicted due to clinical symptoms (especially corneal opacity and renal dysfunction) Patients older than 16. 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
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) 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 Physician in charge and/or the IRB for any reason.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Purpose of this study is to evaluate adverse event(s) of LCAT replacement by auto-transplantation of lcat-gene transduced preadipocytes. | — |
Secondary
| Measure | Time frame |
|---|---|
| Effects of LCAT replacement on main symptoms of the LCAT deficiency (Plasma (or serum) LCAT activity, HDL-cholesterol, cholesteryl ester/total cholesterol ratio, renal manifestation, visual impairment, corneal opacity, and anemia) are exploratively evaluated for 24weeks after transplantation. | — |
Countries
Japan
Contacts
Public ContactNaoya Teramoto
Chiba university Chiba University hospital, Division of Diabetes, Metabolism and Endocrinology
Outcome results
None listed