Working… Menu

Immune Modulation Therapy for Pompe Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02525172
Recruitment Status : Recruiting
First Posted : August 17, 2015
Last Update Posted : April 15, 2016
Information provided by (Responsible Party):
National Taiwan University Hospital

Brief Summary:
The purpose of this study is to assess anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers after treatment with immune modulation therapy in patients of Pompe disease.

Condition or disease Intervention/treatment Phase
Pompe Disease Drug: Rituximab Drug: intravenous immune globulin Drug: Bortezomib Drug: Methotrexate Phase 4

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 8 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Immune Modulation Therapy for ERT-naïve or ERT-treated Pompe Disease Patients
Study Start Date : August 2015
Estimated Primary Completion Date : July 2020
Estimated Study Completion Date : July 2020

Arm Intervention/treatment
Experimental: ITT
immune modulation therapy
Drug: Rituximab
Drug: intravenous immune globulin
Drug: Bortezomib
Drug: Methotrexate

Primary Outcome Measures :
  1. anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers decrease [ Time Frame: 6 months ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • The patient (and/or patient's legal guardian if patient is < 18years) must provide written informed consent prior to any study-related procedures that are performed;
  • The patient must have a confirmed diagnosis of Pompe disease defined as a documented acid α-glucosidase (GAA) enzyme deficiency from blood samples or 2 GAA gene mutations;
  • The patient (and/or legal guardian) must have ability to comply with clinical protocol;
  • Regimen A only: The patient is receiving enzyme replacement therapy, exhibits clinical decline, and has persistent high anti-recombinant human acid α-glucosidase (anti-rhGAA) antibody titers and/or tested positive for antibodies that inhibit enzymatic activity and/or uptake of Myozyme;
  • Regimen B only: The patient is cross-reactive immune material (CRIM) -negative AND have not received Myozyme infusion prior to enrollment

Exclusion Criteria:

  • The patient is at risk of reactivation or is a carrier of Hepatitis B or Hepatitis C;
  • The patient is at risk of reactivation of tuberculosis or has regular contact with individuals who are being actively treated for tuberculosis;
  • The patient has used any investigational product (other than alglucosidase alfa) within 30 days prior to study enrollment;
  • The patient is pregnant or lactating;
  • The patient has had or is required to have any live vaccination within one month prior to enrollment.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02525172

Layout table for location contacts
Contact: Yin-Hsiu Chien +886223123456

Layout table for location information
Yin-Hsiu Chien Recruiting
Taipei, Taiwan, 100
Contact: Yin-Hsiu Chien    +886223123456   
Principal Investigator: Yin-Hsiu Chien         
Sponsors and Collaborators
National Taiwan University Hospital
Layout table for investigator information
Principal Investigator: Yin-Hsiu Chien National Taiwan University Hospital

Layout table for additonal information
Responsible Party: National Taiwan University Hospital Identifier: NCT02525172     History of Changes
Other Study ID Numbers: 201504036MIPB
First Posted: August 17, 2015    Key Record Dates
Last Update Posted: April 15, 2016
Last Verified: April 2016
Keywords provided by National Taiwan University Hospital:
immune modulation therapy
acid α-glucosidase
Additional relevant MeSH terms:
Layout table for MeSH terms
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Immunoglobulins, Intravenous
Rho(D) Immune Globulin
Antineoplastic Agents, Immunological
Antineoplastic Agents
Immunologic Factors
Physiological Effects of Drugs
Antirheumatic Agents
Abortifacient Agents, Nonsteroidal
Abortifacient Agents
Reproductive Control Agents
Antimetabolites, Antineoplastic