Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDR
Conditions
Interventions
Product Name: recombinant human lysosomal acid lipase (rhLAL)
Product Code: SBC-102
Pharmaceutical Form: Solution for infusion
INN or Proposed INN: not available
Current Sponsor code: SBC-102
Other de
Sponsors
Synageva Biopharma Corp.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patient understands the full nature and purpose of the study, including possible risks and side effects, and is willing and able to comply with all study procedures and provide informed consent 2. Male or female patients = 18 years = 65 years of age 3. Documented decreased LAL activity relative to the normal range of the lab performing the assay or documented result of molecular genetic testing confirming diagnosis of LAL deficiency 4. Evidence of liver involvement based on clinical presentation and/or laboratory test results (ALT or AST = 1.5xULN) 5. If on a statin or ezetimibe, must be on a stable dose for at least 4 weeks prior to screening 6. All women must have negative serum pregnancy test at screening and cannot be breast feeding 7. Female subjects of childbearing potential must agree to use a highly effective and approved contraceptive method(s) for the duration of the study and continue to use for 30 days after last dose of study drug. A highly effective method of contraception is defined as: a. strict abstinence; b. bilateral tubal ligation; c. combined oral contraceptives (estrogens and progesterone), implanted or injectable contraceptives on a stable dose for at least 1 month prior to the Screening visit; d. hormonal intra uterine device (IUD) inserted at least 1 month prior to the Screening visit; e. vasectomized partner for at least 3 months prior to the Screening visit. Male subjects, and their partners must be using, and continue to use for 30 days after last dose of study drug, an acceptable method of birth control. Women considered not of childbearing potential must be surgically sterile (total hysterectomy, bilateral salpingo-oophorectomy) or post-menopausal, which is defined as a complete cessation of menstruation for at least one year after the age of 45 years. Are the trial subjects under 18? no Number of subjects for this age range: 0 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 0 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range 0
Exclusion criteria
Exclusion criteria: 1. Clinically significant concurrent disease, serious inter-current illness, concomitant medications or other extenuating circumstances that, in the opinion of the Investigator, would either interfere with study participation or the interpretation of the effects of SBC-102. 2. Clinically significant abnormal values on laboratory screening tests, other than liver function or lipid panel tests. Subjects with an abnormal laboratory value that is of borderline significance may be allowed to undergo repeat testing once within a 30 day period. 3. Patient has participated in a study employing an investigational drug within 30 days of the screening 4. Child-Pugh Class C or AST and/or ALT persistently elevated > 3xULN at screening (2 or more occasions) 5. Previous hemopoietic bone marrow or liver transplant 6. Patient has received prior treatment with enzyme replacement therapy 7. Subject has a total score of 8 or more on a screening Alcohol Use Disorders Identification Test (AUDIT) 8. Patients with known hypersensitivity to eggs
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The primary objective of the study is to evaluate the safety and tolerability of SBC-102 in patients with liver dysfunction due to LAL deficiency (vital signs, physical examination, clinical laboratory tests, immunogenicity tests, adverse event assessment, concomitant medications).;Secondary Objective: The secondary objective is to characterise the pharmacokinetics of SBC-102 delivered by intravenous infusion after single and multiple doses [pre and post infusion Day 0 and 21].;Primary end point(s): The primary objective is to evaluate the safety and tolerability of SBC-102 in patients with liver dysfunction due to LAL deficiency.;Timepoint(s) of evaluation of this end point: At study visits. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): The secondary objective is to characterise the pharmacokinetics of SBC-102 delivered by IV infusion after single and multiple doses [pre and post infusion Day 0 and 21]. | — |
Countries
Czech Republic, United Kingdom
Contacts
Public ContactSophie Bark-Jones
Premier Research Group Ltd.
Outcome results
None listed