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

ConditionPompe Disease

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorDuke University

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease

Must provide a written informed consent

Disqualifiers

None

Trial population

Study subjects will be babies/children/adults with a confirmed diagnosis of infantile-onset Pompe disease who are: 1. seen by the clinical staff of Duke Division of Medical Genetics, or 2. whose physician or parent contacts the Duke Division of Medical Genetics with the wish to participate in this CRIM research study.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Observational
Other intervention
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).

Treatment groups

400 Participants

are divided into 1 treatment group

Group A: Infantile Pompe disease1 intervention

Trial outcomes

Primary outcomes

Clinical response to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme)

Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to ERT. This will allow us to gain an understanding of CRIM status in relation to clinical outcomes and development for these subjects.

Time frame

Up to 18 years

Secondary outcomes

Response to Immune Tolerance Induction (ITI)

Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to Immune Tolerance Induction (ITI) for patients who are CRIM- or CRIM+ with high antibody titers. This will allow us to increase our understanding of the history of Pompe disease in relation to treatment interventions and the role of high antibody titers in terms of patient outcome in order to develop strategies to ameliorate the immune response and other factors that may affect response to ERT.

Time frame

Up to 18 years

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Duke University

Lead sponsor

Genzyme, a Sanofi Company

Collaborator

Source ClinicalTrials.gov

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