The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.
Suhrad G Banugaria, Sean N Prater, Yiu-Ki Ng...
https://pubmed.ncbi.nlm.nih.gov/21637107Actively Recruiting
All Genders
ID01665326
Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease
Led by Duke University · Updated on 2026-04-08
400
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
Sponsors
D
Duke University
Lead Sponsor
G
Genzyme, a Sanofi Company
Collaborating Sponsor
AI-Summary
What this Trial Is About
Infantile-onset Pompe disease is a rare inherited condition caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to harmful glycogen buildup, especially in the heart and muscles. This research aims to understand the natural history of Pompe disease and how patients respond to enzyme replacement therapy (ERT) with alglucosidase alfa (Lumizyme/Myozyme), along with immune responses that may affect treatment outcomes. The study also examines the role of Cross-Reactive Immunological Material (CRIM) status, which influences how well patients tolerate ERT, and the impact of immunosuppressive therapy on antibody development. Participants diagnosed with Infantile Pompe disease will be followed over time in this longitudinal observational study. Researchers will collect and review medical records regularly, focusing on diagnosis, clinical signs, laboratory results, and response to treatments, including ERT and immune tolerance induction. The study aims to correlate CRIM status with gene variants causing Pompe disease and to explore how immune responses affect treatment effectiveness and patient outcomes. During the study, participants' medical information will be monitored, including antibody testing and clinical assessments to track disease progression and treatment response. The main outcome measured is the clinical response to ERT with alglucosidase alfa over up to 18 years, along with the response to immune tolerance induction. This long-term follow-up helps researchers better understand treatment challenges and disease development in individuals with Pompe disease.
CONDITIONS
Brief Title
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease
- Must provide a written informed consent
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Long-term Monitoring
Duration - Up to 18 years
Participants with Infantile Pompe disease are followed over time to collect and review medical information regarding their response to enzyme replacement therapy (ERT) and immune tolerance induction (ITI).
Trial Site Locations
Total: 1 location
1
Duke University Medical Center
Durham, North Carolina, United States, 27710
Actively Recruiting
Loading map...
Research Team
A
Ankit K Desai, MBBS
E
Eleanor Rodriguez-Rassi, MPH
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
Yoav H Messinger, Nancy J Mendelsohn, William Rhead...
https://pubmed.ncbi.nlm.nih.gov/22237443Elimination of antibodies to recombinant enzyme in Pompe's disease.
Nancy J Mendelsohn, Yoav H Messinger, Amy S Rosenberg...
https://pubmed.ncbi.nlm.nih.gov/19129538CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Kathryn L Berrier, Zoheb B Kazi, Sean N Prater...
https://pubmed.ncbi.nlm.nih.gov/25741864Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
Suhrad G Banugaria, Sean N Prater, Trusha T Patel...
https://pubmed.ncbi.nlm.nih.gov/23825616An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Zoheb B Kazi, Ankit K Desai, R Bradley Troxler...
https://pubmed.ncbi.nlm.nih.gov/30214072Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
Ankit K Desai, Crista K Walters, Heidi L Cope...
https://pubmed.ncbi.nlm.nih.gov/29289479Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
Paul T McIntosh, Lisa D Hobson-Webb, Zoheb B Kazi...
https://pubmed.ncbi.nlm.nih.gov/29050825High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.
Mugdha Rairikar, Zoheb B Kazi, Ankit Desai...
https://pubmed.ncbi.nlm.nih.gov/28648664Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier...
https://pubmed.ncbi.nlm.nih.gov/28814660