A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)

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

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Lysosomal Storage Diseases; Glycogen Storage Disease Type II; Glycogen Storage Disease Type 2; Pompe Disease (Late-onset); Pompe Disease; LOPD; Acid Maltase Deficiency
• Intervention / Treatment: Genetic: SPK-3006

• Study Type: Interventional
• Enrollment (Actual): 4
• Phase: Phase 2; Phase 1

Contacts and Locations

Study Locations

• Canada
  • British Columbia
    • Vancouver, British Columbia, Canada, V5Z 1M9
      • Vancouver General Hospital
  • Ontario
    • Ottawa, Ontario, Canada, K1Y 4E9
      • The Ottawa Hospital
  • Quebec
    • Montréal, Quebec, Canada, H3A 2B4
      • Montreal Neurological Hospital
• Denmark
  • Copenhagen, Denmark, 84 2100
    • Rigshospitalet
• France
  • Angers, France, 49933
    • Centre Hospitalier Universitaire d'Angers
  • Garches, France, 92380
    • CHU Paris IdF Ouest - Hôpital Raymond Poincaré
  • Lille Cedex, France, 59037
    • Centre Hospitalier Régional Universitaire de Lille
  • Marseille, France, 13 13385
    • Assistance Publique Hopitaux de Marseille
  • Nice, France, 6000
    • Nice University Hospital
• Germany
  • Munchen, Germany, D08033
    • Friedrich-Baur-Institut Neurologische Klinik Ludwig-Maximilians-Universität München
• Italy
  • Messina, Italy, 98122
    • Universita Degli Studi Di Messina - Dipartimento di Medicina Clinica e Sperimentale
  • Milano, Italy, 35 20122
    • Universita Degli Studi Di Milano, Laboratorio di Biochimica e Genetica della Malattie Neuromuscolari
  • Naples, Italy, 80138
    • Malattie Metaboliche Universita Degli Studi Di Napoli Federico II
  • Pisa, Italy, 56126
    • UO Neurologia Azienda Ospedaliera Universitaria Pisana
  • Torino, Italy, 10126
    • Azienda Ospedaliera Universitaria Città della Salute e della Scienza di Torino - Neurology, Osp. Molinette
• Netherlands
  • Rotterdam, Netherlands, 3015 CE
    • Erasmus Medical Center
• United Kingdom
  • Salford, United Kingdom, M6 8HD
    • Salford Royal MHS Foundation Trust
  • GBR
    • Birmingham, GBR, United Kingdom, B15 2WB
      • New Queen Elizabeth Hospital Birmingham
    • London, GBR, United Kingdom, NW3 2QG
      • The Royal Free London NHS Foundation Trust
• United States
  • Arizona
    • Phoenix, Arizona, United States, 85013
      • Barrow Neurological Institute
  • California
    • Orange, California, United States, 92868
      • University of California Irvine Health
  • Georgia
    • Atlanta, Georgia, United States, 30329
      • Emory University School of Medicine
  • Kansas
    • Kansas City, Kansas, United States, 66160
      • University of Kansas Medical Center Research Institute
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • University of Minnesota
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health & Science University
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • University of Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • University of Pittsburgh Medical Center
  • Utah
    • Salt Lake City, Utah, United States, 84108
      • University of Utah
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Lysosomal and Rare Disorders Research & Treatment Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Sequential Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: SPK-3006; All participants who meet the eligibility criteria will receive a single intravenous (i.v.) administration of SPK-3006.	Genetic: SPK-3006; adeno-associated viral (AAV) vector

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of adverse and serious adverse events (AEs/SAEs), including clinically significant abnormal laboratory values.	Adverse events.	Up to 5 years
Occurrence of immune response against AAV capsid		Up to 5 years
Occurrence of immune response against GAA transgene		Up to 5 years

Collaborators and Investigators

• Sponsor: Spark Therapeutics, Inc.
• Investigators: Principal Investigator: Tahseen Mozaffar, MD, University of California Irvine Health

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2020
• Primary Completion (Estimated): April 1, 2032
• Study Completion (Estimated): April 1, 2032

Study Registration Dates

• First Submitted: September 16, 2019
• First Submitted That Met QC Criteria: September 16, 2019
• First Posted (Actual): September 18, 2019

Study Record Updates

• Last Update Posted (Actual): November 27, 2024
• Last Update Submitted That Met QC Criteria: November 25, 2024
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Pathologic Processes; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lysosomal Storage Diseases, Nervous System; Disease; Metabolic Diseases; Glycogen Storage Disease Type II; Glycogen Storage Disease; Lysosomal Storage Diseases
• Other Study ID Numbers: SPK-3006-101; 2019-001283-30 (EudraCT Number)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No