A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction

NCT02185651 | Terminated Phase 1

• 1 other identifier: IRB201601641
• Study Type: interventional
• Target: 2
• Locations: 0 countries
• Sites: N/A

Brief Summary

Hypothesis: the effectiveness of treatment of Pompe disease with rhGAA enzyme replacement therapy (ERT) is limited at least in part because patients develop antibodies against the provided rhGAA enzyme. Treatment with Zavesca® prior to infusion may dampen or eliminate the anti-rhGAA immune response in patients receiving ERT, thereby allowing for greater ERT efficacy. Treatment with Zavesca® before a enzyme replacement therapy (ERT) may decrease the severity of, or eliminate infusion associated reactions (IAR) in people with Pompe Disease receiving ERT.

Conditions

Pompe Disease; Hypersensitivity Reaction

Keywords

Pompe Disease; Enzyme Replacement Therapy; Infusion Associated Reaction

Outcome Measures

Primary Outcomes (1)

• Evaluate Pharmacodynamics of ERT with pre-medication Zavesca

  Change in GAA antibody level from Baseline to week 0: GAA antibody titer is reported at timepoints: pre-infusion, and 6, 12, and 24 hours post-infusion start. Change in GAA antibody level from Baseline to week 6: GAA antibody titer is reported at time points: pre-infusion and post-infusion.

  Baseline, week 0, week 6

Secondary Outcomes (2)

• Evaluate pharmacokinetics of ERT with pre-medication Zavesca®

  Baseline, week 0

• Evaluate biodistribution of ERT with pre-medication Zavesca®.

  Week 0, week 7

Study Arms (2)

Zavesca® 100 mg

ACTIVE COMPARATOR

3 study participants are given Zavesca® prescription 100 mg for administration before ERT infusion. Week 0 infusion is completed at study site, with blood collection for anti-GAA antibody level before, during and after the ERT infusion. A punch muscle biopsy is completed the day after ERT infusion with pre-medication Zavesca®. Health Survey is completed. Week 2, 4, and 6 ERT infusion with pre-medication are completed at local/home infusion center. Travel to site for week 7 study visit includes physical exam, blood collection and punch muscle biopsy. Health survey is completed.

Drug: Zavesca® Prescription

Zavesca® 300 mg

ACTIVE COMPARATOR

3 study participants are given Zavesca® prescription 300 mg for administration before ERT infusion. Week 0 infusion is completed at study site, with blood collection for anti-GAA antibody level before, during and after the ERT infusion. A punch muscle biopsy is completed the day after ERT infusion with pre-medication Zavesca®. Health Survey is completed. Week 2, 4, and 6 ERT infusion with pre-medication are completed at local/home infusion center. Travel to site for week 7 study visit includes physical exam, blood collection and punch muscle biopsy. Health survey is completed.

Drug: Zavesca® Prescription

Interventions

Zavesca® Prescription DRUG

Following baseline evaluation, Zavesca® prescription is given. Week 2, 4, and 6 ERT infusion with pre-medication are completed at local/home infusion center. Travel to site for week 7 study visit includes physical exam, blood collection and punch muscle biopsy. Health survey is completed.

Also known as: miglustat

Zavesca® 100 mg; Zavesca® 300 mg

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Subjects will be patients between the ages of 18 years and 65 years who have been diagnosed with Pompe Disease, confirmed by mutational analysis and/or GAA enzyme activity assay.
• Receiving rhGAA ERT
• Willing to travel to the study site for study assessments
• Willingness of local medical treatment provider to continue treating study participant with addition of Zavesca® to treatment plan.
• Willingness of study participant to modify dietary intake on day of infusion \*All Subjects will continue enzyme replacement therapy as standard of care, as prescribed by local medical treatment provider during the course of the Study.

You may not qualify if:

• Subject is unable to meet the study requirements
• Subject's medical condition contraindicates participation or Study Investigators feel that participation is otherwise not in the Subject's best interest
• Subject does not receive ERT treatment
• Participation in other interventional studies at the time of enrollment that may interfere with this study (at the investigator's discretion)
• Unable to travel to the University of Florida for study visits

Sponsors & Collaborators

• University of Florida: lead
• Amicus Therapeutics: collaborator

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Hypersensitivity

Interventions

miglustat

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Immune System Diseases

Study Officials

• Barry J. Byrne, MD, PhD

  University of Florida

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 1, 2014
• First Posted: July 9, 2014
• Study Start: October 1, 2016
• Primary Completion: July 1, 2018
• Study Completion: July 1, 2018
• Last Updated: December 5, 2018

Record last verified: 2018-12