Actively Recruiting

All Genders
NCT01665326

Determination of 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

1017 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

This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and response to immunosuppressive therapy in cases at risk for developing or those who have developed high and sustained antibodies to ERT. To follow the long-term outcomes, we will collect medical records including but not limited to the diagnosis, clinical parameters, assessments for clinical monitoring, and laboratory values including antibody testing results.

CONDITIONS

Official Title

Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease
  • Must provide a written informed consent
Not Eligible

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

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Trial Site Locations

Total: 1 location

1

Duke University Medical Center

Durham, North Carolina, United States, 27710

Actively Recruiting

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Research Team

A

Ankit K Desai, MBBS

CONTACT

E

Eleanor Rodriguez-Rassi, MPH

CONTACT

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

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