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:: Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Patients With Lysosomal Acid Lipase Deficiency

  • Date : 2011/06/06 (Rev: 2016/06/11)
  • Synageva BioPharma Corp.
  • Synopsis : Open label dose escalation study in adult patients with liver dysfunction due to Lysosomal Acid Lipase (LAL) Deficiency.

Main Document

Synageva BioPharma Corp. has initiated a clinical study to evaluate the safety, tolerability, and pharmacokinetics of SBC-102 as an enzyme replacement therapy for cholesteryl ester storage disease (CESD).


This is the first clinical study of SBC-102 for the treatment of LAL Deficiency.

It is an open label dose escalation study in adult patients with liver dysfunction due to Lysosomal Acid Lipase (LAL) Deficiency and will examine three doses of SBC-102.

The targeted number for this study is 9 evaluable subjects.

Study Type:


Study Design:

Allocation: Non-Randomized
Endpoint Classification: Safety Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment

Cholesterol Ester Storage Disease(CESD)
Lysosomal Acid Lipase Deficiency
Drug: SBC-102
Phase I

Official Title:

An Open Label Multi-center Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Patients With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency

Further study details as provided by Synageva BioPharma Corp.:

Primary Outcome Measures:

Safety and Tolerability of SBC-102 [ Time Frame: 4 weeks ] [ Designated as safety issue: Yes ]

The safety and tolerability of weekly infusions of SBC-102 will be assessed by routine monitoring of patients for adverse events (AEs) and monitoring changes from baseline in physical examination findings, vital signs, clinical laboratory evaluations, immunogenicity tests and concomitant therapies.

Secondary Outcome Measures:

Pharmacokinetics of SBC-102 [ Time Frame: 4 weeks ] [ Designated as safety issue: No ]

Characterize the pharmacokinetics of SBC-102 delivered by IV infusion after single and multiple doses.

Estimated Enrollment:9
Study Start Date:February 2011
Estimated Study Completion Date:May 2011
Estimated Primary Completion Date:May 2011 (Final data collection date for primary outcome measure)
ArmsAssigned Interventions
Cohort 1: Experimental

Cohort 1: Weekly IV infusions of Dose A of SBC-102

Intervention: Drug: SBC-102

Drug: SBC-102

Weekly IV infusions Dose A of SBC-102

Cohort 2: Experimental

Cohort 2: Weekly IV infusions of Dose B of SBC-102

Intervention: Drug: SBC-102

Drug: SBC-102

Weekly IV infusions Dose B of SBC-102

Cohort 3: Experimental

Cohort 3: Weekly IV infusions of Dose C of SBC-102

Intervention: Drug: SBC-102

Drug: SBC-102

Weekly IV infusions Dose C of SBC-102

Detailed Description:

Cholesteryl Ester Storage Disease (CESD) is the late onset phenotype for Lysosomal Acid Lipase (LAL) Deficiency, a Lysosomal Storage Disorder, which also has an early onset phenotype known as Wolman Disease that primarily affects infants. CESD can present in childhood but often goes unrecognized until adulthood when the underlying pathology is advanced. Many of the signs and symptoms are common to patients with other liver conditions.

CESD is an autosomal recessive genetic condition and is characterized by hepatomegaly, persistently abnormal liver function tests (LFTs) and type II hyperlipidemia. Splenomegaly and evidence of mild hypersplenism may affect some patients. Untreated, CESD may lead to fibrosis, cirrhosis, liver failure and death.

Disease Risk In Families:

  • 25 per million incidence
  • Autosomal recessive disorder, LAL deficiency is carried on chromosome 10
  • Parents with an affected son or daughter have a 1 in 4 chance of having another affected child


Ages Eligible for Study:18 Years to 65 Years
Genders Eligible for Study:Both
Accepts Healthy Volunteers:No


Inclusion Criteria:

  • Male or female patients 18 and 65 years of age
  • Documented decreased LAL activity
  • Evidence of liver involvement

Exclusion Criteria:

  • Clinically significant concurrent disease, serious inter-current illness, concomitant medications or other extenuating circumstances
  • Clinically significant abnormal values on laboratory screening tests, other than liver function or lipid panel tests
  • AST and/or ALT persistently elevated > 3xULN at screening
  • Previous hemopoietic bone marrow or liver transplant
  • Current history of alcohol abuse

Contacts and Locations:

Please refer to this study by its ClinicalTrials.gov identifier: NCT01307098


Contact: Jennifer Burg781-357-9900clinicaltrials@synageva.com


United States, California
Stanford UniversityRecruiting
Palo Alto, California, United States, 94304
Contact: Katherine Connors, MPH 650-736-8166 kconnors@stanford.edu
Principal Investigator: Gregory Enns, MD
United States, New York
Mount Sinai School of MedicineRecruiting
New York, New York, United States, 10029
Contact: Louise Bier, MS 212-241-0915 louise.bier@mssm.edu
Principal Investigator: Manisha Balwani, MD, MS
United States, Pennsylvania
Children's Hospital of Pittsburgh of UPMCRecruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Michele Graham 412-692-3476 Michele.Graham@chp.edu
Principal Investigator: David Finegold, MD


Prof. Wraith, MD
Wellcome Trust Clinical Research Facilities
Manchester Royal Infirmary
M13 9WL

Dr Patrick Deegan,
Addenbrooke's Lysosomal Disorders Unit
Box 135
Cambridge University Hospitals,
Hills Road,

Czech Republic:

Dr Malinova
1st Faculty of Medicine Charles University
Department of Paediatrics
Ke Karlovu 2
Praha 2
120 00


Dr. Vassili Valayannopoulos
Hopital Necker-Enfants Malades
Inherited Metabolic Disorders
149, Rue des Sevres

Sponsors and Collaborators:

Synageva BioPharma Corp.

Additional Information:

Responsible Party:Synageva BioPharma Corp. (Mark Hites)
ClinicalTrials.gov Identifier:NCT01307098 History of Changes
Other Study ID Numbers:LAL-CL01
Study First Received:March 1, 2011
Last Updated:May 17, 2011
Health Authority:United States: Food and Drug Administration; United Kingdom: Medicines and Healthcare Products Regulatory Agency

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