Clinical trial NCT04093349: A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
Official 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
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: PHASE1
PHASE2
Conditions: Pompe Disease
Pompe Disease (Late-onset)
Glycogen Storage Disease Type 2
Glycogen Storage Disease Type II
LOPD
Lysosomal Storage Diseases
Acid Maltase Deficiency
Lead sponsor: Spark Therapeutics, Inc.
Sponsor class: INDUSTRY
First posted: 2019-09-18
Enrollment: 4
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SEQUENTIAL
Primary purpose: TREATMENT

Brief summary: The purpose of this study is 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 enzyme replacement therapy (ERT). Participants will be treated in sequential, dose-level cohorts.


Eligibility criteria: Inclusion Criteria:

* Provide written informed consent;
* Males and Females ≥18 years of age with late-onset Pompe disease;
* Received ERT for at least the previous 24 months
* Have clinically moderate, late-onset Pompe disease characteristics;
* Agree to use reliable contraception.

Exclusion Criteria:

* Active hepatitis B and/or C;
* Significant underlying liver disease;
* Human immunodeficiency virus (HIV) infection;
* Prior hypersensitivity to rhGAA;
* Pre-existing anti-AAV neutralizing antibody titers;
* High titer antibody responses to rhGAA;
* Requires any invasive ventilation or requires noninvasive ventilation while awake and upright;
* Received any prior vector or gene transfer agent;
* Active malignancy (except non-melanoma skin cancer);
* History of liver cancer;
* Pregnant or nursing women;
* Any evidence of active infection at the time of SPK-3006 infusion.

Primary outcomes:
measure: Number of adverse and serious adverse events (AEs/SAEs), including clinically significant abnormal laboratory values.
timeFrame: Up to 5 years
measure: Occurrence of immune response against AAV capsid
timeFrame: Up to 5 years
measure: Occurrence of immune response against GAA transgene
timeFrame: Up to 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Phoenix
country: United States
facility: Barrow Neurological Institute
state: Arizona
city: Orange
country: United States
facility: University of California Irvine Health
state: California
city: Atlanta
country: United States
facility: Emory University School of Medicine
state: Georgia
city: Kansas City
country: United States
facility: University of Kansas Medical Center Research Institute
state: Kansas
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
city: Portland
country: United States
facility: Oregon Health & Science University
state: Oregon
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Pittsburgh
country: United States
facility: University of Pittsburgh Medical Center
state: Pennsylvania
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
city: Fairfax
country: United States
facility: Lysosomal and Rare Disorders Research & Treatment Center
state: Virginia
city: Vancouver
country: Canada
facility: Vancouver General Hospital
state: British Columbia
city: Ottawa
country: Canada
facility: The Ottawa Hospital
state: Ontario
city: Montréal
country: Canada
facility: Montreal Neurological Hospital
state: Quebec
city: Copenhagen
country: Denmark
facility: Rigshospitalet
city: Angers
country: France
facility: Centre Hospitalier Universitaire d'Angers
city: Garches
country: France
facility: CHU Paris IdF Ouest - Hôpital Raymond Poincaré
city: Lille Cedex
country: France
facility: Centre Hospitalier Régional Universitaire de Lille
city: Marseille
country: France
facility: Assistance Publique Hôpitaux de Marseille
city: Nice
country: France
facility: Nice University Hospital
city: Munchen
country: Germany
facility: Friedrich-Baur-Institut Neurologische Klinik Ludwig-Maximilians-Universität München
city: Messina
country: Italy
facility: Universita Degli Studi Di Messina - Dipartimento di Medicina Clinica e Sperimentale
city: Milano
country: Italy
facility: Universita Degli Studi Di Milano, Laboratorio di Biochimica e Genetica della Malattie Neuromuscolari
city: Naples
country: Italy
facility: Malattie Metaboliche Universita Degli Studi Di Napoli Federico II
city: Pisa
country: Italy
facility: UO Neurologia Azienda Ospedaliera Universitaria Pisana
city: Torino
country: Italy
facility: Azienda Ospedaliera Universitaria Città della Salute e della Scienza di Torino - Neurology, Osp. Molinette
city: Rotterdam
country: Netherlands
facility: Erasmus Medical Center
city: Birmingham
country: United Kingdom
facility: New Queen Elizabeth Hospital Birmingham
state: GBR
city: London
country: United Kingdom
facility: The Royal Free London NHS Foundation Trust
state: GBR
city: Salford
country: United Kingdom
facility: Salford Royal MHS Foundation Trust
Study officials:
affiliation: University of California Irvine Health
name: Tahseen Mozaffar, MD
role: PRINCIPAL_INVESTIGATOR
References: