SPK-3006-101
Research type
Research Study
Full title
Phase 1/2, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of SPK-3006 in adults with late-onset Pompe disease
IRAS ID
270170
Contact name
Mark Eldon Roberts
Contact email
Sponsor organisation
Spark Therapeutics
Eudract number
2019-001285-30
Clinicaltrials.gov Identifier
Duration of Study in the UK
2 years, 8 months, 26 days
Research summary
This is a prospective, multinational, multicentre, open-label, non-randomized, first-in human Phase 1/2, dose-escalation study to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease receiving ERT.
Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase (GAA), which catalyses the degradation of glycogen. This leads to cardiac, respiratory, and skeletal muscle dysfunction in patients. Enzyme replacement therapy (ERT) is available for Pompe disease; however, it has several limitations (i.e., limited biodistribution and high immunogenicity) leading to treatment failures and limited long-term efficacy.
SPK-3006 is a novel investigational gene therapy for the potential treatment of patients with Pompe disease. SPK-3006 is an adeno-associated viral (AAV) vector which is a bioengineered form of GAA which is more efficiently secreted into the systemic circulation than the wild type protein. It is thought that a single administration of SPK-3006 could result in the conversion of the liver into a continuous source of clinically meaningful levels of GAA in the circulation, resulting in sustained uptake of GAA by affected tissues without the need for frequent intravenous ERT infusions.
This study shall be conducted in males and females who are ≥ 18 years and diagnosed with clinically moderate, late-onset Pompe disease who are receiving ERT. Approx. 20 LOPD participants will be dosed with SPK-3006 globally across 16 centres.
For each participant the study is expected to be approx. 66 weeks which includes a screening period of up to 14 weeks, dosing with SPK-3006 (one day) and a follow up period of 52 weeks. Patients shall be treated in sequential dose-level cohorts and optional additional or expanded cohorts at selected dose levels will be determined by data of previous participants.REC name
London - West London & GTAC Research Ethics Committee
REC reference
20/LO/0373
Date of REC Opinion
9 Jun 2020
REC opinion
Further Information Favourable Opinion