Trial of SBC-102 in Adults with Lysosomal Acid Lipase Deficiency

Purpose:

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.

Main Content

Study Type:

Interventional

Study Design:

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

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.

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

Eligibility:

Criteria:

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

Contacts:

Locations:

UK:

Prof. Wraith, MD
Wellcome Trust Clinical Research Facilities
Manchester Royal Infirmary
Manchester
M13 9WL
Melanie.Dadkhah-Taeidy@wtcrf.nhs.uk

Dr Patrick Deegan,
Addenbrooke's Lysosomal Disorders Unit
Box 135
Cambridge University Hospitals,
Hills Road,
Cambridge.
CB2 0QQ
liz.morris@addenbrookes.nhs.uk

Czech Republic:

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

France:

Dr. Vassili Valayannopoulos
Hopital Necker-Enfants Malades
Inherited Metabolic Disorders
149, Rue des Sevres
Paris
75015
France

Sponsors and Collaborators:

Synageva BioPharma Corp.

Additional Information:

Attribution/Source(s): This quality-reviewed publication was selected for publishing by the editors of Disabled World (DW) due to its relevance to the disability community. Originally authored by Synageva BioPharma Corp. and published on 2011/06/06, this content may have been edited for style, clarity, or brevity.