Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease

NCT00688597 | Terminated Phase 2 Results

• 1 other identifier: POM-CL-201
• Study Type: interventional
• Target: 3
• Locations: 1 country
• Sites: 1

Brief Summary

The main purpose of this study was to determine the safety and tolerability of 3 different doses of duvoglustat (AT2220) in participants affected by Pompe disease. The study also evaluated the effects of duvoglustat on functional parameters in Pompe disease.

Conditions

Pompe Disease

Keywords

Amicus Therapeutics; Duvoglustat; AT2220

Outcome Measures

Primary Outcomes (1)

• Proportion Of Participants Experiencing Severe Treatment-emergent Adverse Events (TEAEs)

  The number of participants experiencing severe TEAEs is presented for participants who received duvoglustat treatment in this open-label study. The duration of duvoglustat exposure for Cohort 1 ranged from 2 to 24 days, and their exposure ranged from a total of 7,500 to 32,500 milligrams of duvoglustat. An adverse event (AE) refers to any unfavorable and unintended sign, symptom, syndrome, or illness that develops or worsens during the period of observation in the clinical study. The following guideline was used to grade the intensity of an AE: mild, the AE is easily tolerated and does not interfere with daily activity; moderate, the AE interferes with the daily activity but the participant is still able to function; severe, the AE is incapacitating and requires medical intervention. A summary of serious and all other non-serious AEs regardless of causality is located in the Reported Adverse Events module.

  Baseline, Week 11

Secondary Outcomes (1)

• Change In 6-minute Walk Test (6MWT) From Baseline To End Of Study

  Baseline, Week 11

Study Arms (3)

Cohort 1

EXPERIMENTAL

Regimen 1: Low-dose duvoglustat (2.5 grams \[g\]) once a day (QD) for 3 days, followed by no drug for 4 days, for 11 weeks.

Drug: Duvoglustat

Cohort 2

EXPERIMENTAL

Regimen 1: High-dose duvoglustat (5.0 g) QD for 3 days, followed by no drug for 4 days, for 11 weeks.

Drug: Duvoglustat

Cohort 3

EXPERIMENTAL

Regimen 2: High-dose duvoglustat (5.0 g) QD for 7 days, followed by no drug for 7 days, for 11 weeks.

Drug: Duvoglustat

Interventions

Duvoglustat DRUG

Powder in a bottle for dissolution in water for oral administration

Also known as: Duvoglustat hydrochloride, 1-Deoxynojirimycin hydrochloride, AT2220

Cohort 1; Cohort 2; Cohort 3

Eligibility Criteria

• Age: 18 Years - 74 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Male or female, 18 to 74 years of age inclusive
• Diagnosis of Pompe disease based on clinical assessment, enzyme assay, and/or genotyping. Confirmatory genotyping will be performed on all participants who are screened for the study
• Naïve to enzyme replacement therapy (ERT) or has not received ERT in the 3 months prior to screening
• Willing not to initiate ERT or other prohibited treatment during study participation
• Functional grade for arms and/or legs ≥2 OR sitting forced vital capacity ≥30% and \<80% of predicted value, reproducible between screening and baseline (±15%)
• Participants of reproductive potential agree to use reliable methods of contraception during the study
• Participant or legal representative is willing and able to provide written informed consent

You may not qualify if:

• Any intercurrent condition that may preclude accurate interpretation of study data
• Obstructive pulmonary disease
• Invasive ventilatory support
• Use of noninvasive ventilatory support \>8 hours/day while awake
• History of QTc prolongation \>450 milliseconds (msec) for males and \>470 msec for females
• History of allergy or sensitivity to the study drug, including any prior serious adverse reaction to iminosugars (such as miglustat or miglitol)
• Pregnancy or breast-feeding
• Current or recent drug or alcohol abuse
• Treatment with another investigational drug within 30 days of study start
• Use of prohibited medications ≤3 months prior to screening
• Otherwise unsuitable for the study in the opinion of the Investigator

Sponsors & Collaborators

• Amicus Therapeutics: lead

Study Sites (1)

Unknown Facility

Decatur, Georgia, 30033, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

1-Deoxynojirimycin

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

Intervention Hierarchy (Ancestors)

Imino Pyranoses; Imino Sugars; Imines; Organic Chemicals; Alkaloids; Heterocyclic Compounds; Piperidines; Heterocyclic Compounds, 1-Ring; Carbohydrates

Limitations and Caveats

The serious adverse event of muscle weakness was the main contributor to the study not reaching the target number of participants needed to achieve target power and statistically reliable results.

Results Point of Contact

• Title: Amicus Therapeutics
• Organization: Patient Advocacy

clinicaltrials@amicusrx.com

+1-609-662-2000

Study Officials

• Medical Monitor Clinical Research

  Amicus Therapeutics

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 30, 2008
• First Posted: June 3, 2008
• Study Start: December 8, 2008
• Primary Completion: December 14, 2009
• Study Completion: December 14, 2009
• Last Updated: September 11, 2025
• Results First Posted: August 17, 2018

Record last verified: 2025-09

Locations

US (1)