NCT01288027

Brief Summary

This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease. The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
16

participants targeted

Target at below P25 for phase_4

Timeline
Completed

Started Jun 2011

Typical duration for phase_4

Geographic Reach
4 countries

15 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 27, 2011

Completed
6 days until next milestone

First Posted

Study publicly available on registry

February 2, 2011

Completed
4 months until next milestone

Study Start

First participant enrolled

June 1, 2011

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2013

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2013

Completed
1 year until next milestone

Results Posted

Study results publicly available

December 2, 2014

Completed
Last Updated

December 19, 2014

Status Verified

December 1, 2014

Enrollment Period

2.5 years

First QC Date

January 27, 2011

Results QC Date

November 24, 2014

Last Update Submit

December 4, 2014

Conditions

Pompe Disease (Late-Onset)Glycogen Storage Disease Type II (GSD II)Glycogenesis 2 Acid Maltase Deficiency

Outcome Measures

Primary Outcomes (1)

  • Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26

    Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'.

    Baseline, Week 26

Secondary Outcomes (6)

  • Glycogen Distribution

    Baseline, Week 26

  • Muscle Fiber Morphology

    Baseline, Week 26

  • Lysosomal Inclusions

    Baseline, Week 26

  • Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26

    Baseline, Week 26

  • Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26

    Baseline, Week 26

  • +1 more secondary outcomes

Study Arms (1)

Alglucosidase Alfa

EXPERIMENTAL
Biological: Alglucosidase Alfa

Interventions

Alglucosidase AlfaBIOLOGICAL

Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks.

Also known as: GZ419829, Myozyme®, Lumizyme®
Alglucosidase Alfa

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • The participant has confirmed acid alpha-glucosidase (GAA) enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy
  • The participant is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate
  • The participant has a certain forced vital capacity (FVC) in upright position
  • The participant, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin \[beta-hCG\]) at baseline

You may not qualify if:

  • The participant has had previous treatment with ERT
  • The participant is wheelchair dependent
  • The participant requires invasive-ventilation (non-invasive ventilation is allowed)
  • The participant is participating in another clinical study using investigational treatment
  • The participant cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc
  • The participant, in the opinion of the Investigator, is unable to adhere to the requirements of the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (15)

Unknown Facility

Orange, California, United States

Location

Unknown Facility

Gainesville, Florida, United States

Location

Unknown Facility

Kansas City, Kansas, United States

Location

Unknown Facility

St Louis, Missouri, United States

Location

Unknown Facility

New York, New York, United States

Location

Unknown Facility

Durham, North Carolina, United States

Location

Unknown Facility

Colombus, Ohio, United States

Location

Unknown Facility

Heshey, Pennsylvania, United States

Location

Unknown Facility

Fairfax, Virginia, United States

Location

Unknown Facility

Mainz, Germany

Location

Unknown Facility

München, Germany

Location

Unknown Facility

Münster, Germany

Location

Unknown Facility

Rotterdam, Netherlands

Location

Unknown Facility

Newcastle upon Tyne, United Kingdom

Location

Unknown Facility

Salford, United Kingdom

Location

Related Publications (1)

  • van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

    PMID: 27473031DERIVED

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGlycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Results Point of Contact

Title
Trial Transparency Team
Organization
Sanofi
Contact-us@sanofi.com

Study Officials

  • Medical Monitor

    Genzyme, a Sanofi Company

    STUDY DIRECTOR

Publication Agreements

PI is Sponsor Employee
No
Restriction Type
OTHER
Restrictive Agreement
Yes

Study Design

Study Type
interventional
Phase
phase 4
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 27, 2011

First Posted

February 2, 2011

Study Start

June 1, 2011

Primary Completion

December 1, 2013

Study Completion

December 1, 2013

Last Updated

December 19, 2014

Results First Posted

December 2, 2014

Record last verified: 2014-12

Locations

DE(3)NL(1)US(9)GB(2)