Sebelipase Alfa in Infants with Rapidly Progressive LAL Deficiency
Research type
Research Study
Full title
A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency
IRAS ID
155243
Contact name
Simon Jones
Contact email
Sponsor organisation
Synageva BioPharma Corp.
Eudract number
2014-000533-22
Research summary
Lysosomal Acid Lipase (LAL) deficiency is a rare disorder that is caused by the body not producing enough of the enzyme LAL which plays an important role in breaking down fatty material. This causes fatty material to build up in various tissues of the body such as the liver and small intestine.
LAL deficiency in infants is an extremely rare form of LAL deficiency which leads to malabsorption (inability to absorb nutrients from food), growth failure, and liver failure. It is usually fatal in the first 6 months of life and there are currently no safe or effective treatments.
The purpose of this study is to investigate the safety and tolerability of sebelipase alfa (a replacement LAL enzyme) in infants less than 8 months old with rapidly progressive LAL deficiency.
All participants will receive sebelipase alfa as a weekly intravenous infusion over approximately 2 hours. The dose may be increased if participants are not responding well to treatment (provided previous infusions have been tolerated). Participants who have been treated for at least 96 weeks and who have been on a stable dose for at least 24 weeks may change to receive the same dose every other week.
Study procedures include physical examination, weight and growth measurements, vital signs, blood sampling, assessment of side effects and dosing with sebelipase alfa. The treatment duration for each participant is expected to be at least 18 months. They may continue to receive treatment for up to 3 years.
This study is sponsored by Synageva Biopharma Corp. Approximately 10 patients will participate in this study in the USA and UK with 5 patients from 1 hospital in the UK.
REC name
North West - Greater Manchester Central Research Ethics Committee
REC reference
14/NW/0321
Date of REC Opinion
28 May 2014
REC opinion
Further Information Favourable Opinion