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

Part of paid clinical trials in Durham, North Carolina.

Sponsor
Duke University
Study ID
NCT01665326
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Observational — OTHER
    This is a longitudinal study focused on the emerging natural history of Infantile Pompe disease, response to ERT using alglucosidase alfa (Myozyme) and response to Immune Tolerance Induction (ITI).

Study Details

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.

Key Dates

Start date
Sep 30, 2009
Status verified
Apr 2026
Primary completion
Mar 31, 2028
Completion
Mar 31, 2029

Study Design

Enrollment
400 participants (estimated)

Arms

  • Arm: Infantile Pompe disease
    Individuals with a confirmed diagnosis of Infantile Pompe disease

Primary Outcome Measure

Clinical response to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme) [ Time Frame: Up to 18 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Duke University Medical CenterDurhamNorth Carolina27710
Ankit K Desai, MBBS
[email protected]
919-613-6310
Eleanor Rodriguez-Rassi, MPH
[email protected]
919-613-1219
Priya S Kishnani, MD (PRINCIPAL_INVESTIGATOR)

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By research site
Duke University Medical Center· Durham, NC

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