Long-term follow-up of individuals with Pompe disease
Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease
This study looks at how people with infantile Pompe disease respond to enzyme replacement therapy over time and how their immune system affects their treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Sex | All |
| Sponsor | Duke University Academic / other |
| Locations | 1 site (Durham, North Carolina) |
| Trial ID | NCT01665326 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on the natural history of infantile Pompe disease, a genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase. Researchers will collect and analyze medical data over time, including responses to enzyme replacement therapy (ERT) with alglucosidase alfa and the impact of immunosuppressive therapy in patients who develop antibodies against ERT. The study aims to understand the relationship between Cross-Reactive Immunological Material (CRIM) status and treatment outcomes, providing insights into patient tolerance to ERT and potential complications. Regular assessments will include clinical parameters, laboratory values, and antibody testing results.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with infantile, atypical, or juvenile onset Pompe disease.
Not a fit: Patients who do not have a confirmed diagnosis of Pompe disease or those who cannot provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve treatment strategies for patients with Pompe disease by identifying factors that influence their response to enzyme replacement therapy.
How similar studies have performed: Other studies have shown success in understanding the natural history and treatment responses in Pompe disease, making this approach both relevant and valuable.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease * Must provide a written informed consent
Where this trial is running
Durham, North Carolina
- Duke University Medical Center — Durham, North Carolina, United States (Recruiting)
Study contacts
- Principal investigator: Priya S Kishnani, MD — Duke University
- Study coordinator: Ankit K Desai, MBBS
- Email: ankit.desai@duke.edu
- Phone: 919-613-6310
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.