ClinicalTrials.gov record NCT01665326
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a prospective, long-term observational study that collects medical records and lab results from people with infantile-, atypical-, or juvenile-onset Pompe disease (babies, children, or people). The study follows CRIM status, response to enzyme replacement therapy with alglucosidase alfa, and immune responses including antibody testing. Investigators will correlate CRIM status with GAA gene variants and track clinical outcomes over time.
What it is studying. The study is testing how CRIM status (whether a person produces natural GAA enzyme) relates to GAA gene variants, clinical response to enzyme replacement therapy (alglucosidase alfa), and immune responses (including IgG and IgE and immune phenotyping). It also examines responses to immune tolerance induction (ITI) in people with high or sustained antibody levels.
What the researchers hope to learn. To correlate CRIM status with underlying GAA gene variants; to describe the natural history and clinical treatment responses in CRIM-positive and CRIM-negative patients with and without immune modulation; and to investigate the role of immune responses (IgG and IgE) and immune phenotypes in treatment outcomes.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Other
- Observational
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease
- Must provide a written informed consent
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
Infantile-onset Pompe disease is an inherited disorder caused by lack of or defect in the enzyme acid alpha-glucosidase (GAA). GAA enzyme deficiency causes glycogen to build up and damage cells throughout the body, especially in the heart and muscles, which is normally diagnosed within the first months of life. Current treatment for Pompe disease involves enzyme replacement therapy (ERT) using the drug alglucosidase alfa (Lumizyme/Myozyme), which provides a form of the GAA enzyme to replace the enzyme that is missing or not working properly in the patient's blood. In this study, the investigators will learn about the patient's ability to tolerate ERT. Cross-Reactive Immunological Material (CRIM) is a measurement of natural GAA production and an important factor that affects how patients respond to ERT. Children who produce some natural GAA are classified as CRIM-positive, while children who do not produce any natural GAA are classified as CRIM-negative. Children who are CRIM-positive generally tolerate ERT well. But, children who are CRIM-negative, and some children classified as CRIM-positive, have a poor response to ERT due to complications from an immune response against the drug. Treatments are currently being developed to stop this immune response and prevent complications from ERT. 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. The specific aims of this study are:
- To correlate CRIM status determined in a blood sample or cultured skin fibroblasts with GAA gene variants that are causing your child's Pompe disease.
- To explore the clinical treatment response and natural history of CRIM-positive and CRIM-negative Pompe disease patients with and without immune modulation.
- To investigate the role of immune response to treatment (IgG and IgE) including immune phenotyping.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a long-term natural history study: investigators will regularly collect and review your medical records, clinical assessments, and antibody-testing results related to Pompe disease and enzyme replacement therapy (alglucosidase alfa). The study may require blood samples and, when needed to determine CRIM status, a cultured skin fibroblast sample (a small skin sample). Medical records for enrolled children may be followed until the child reaches 18 years of age. The record does not list other specific invasive procedures.
How the study is structured. A prospective observational cohort: participants are followed over time without receiving study-assigned treatments. Researchers collect and review medical records, clinical assessments, and laboratory/antibody test results, and track outcomes (including through age 18 where noted).
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Pompe disease
Important dates
- Study start
- September 2009
- Primary completion
- March 2028 (estimated)
- Study completion
- March 2029 (estimated)
- Target enrollment
- 400 participants (estimated)
- Last updated on registry
- Apr 8, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Duke University
- Collaborators
- Genzyme, a Sanofi Company
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Ankit K Desai, MBBS 📞 919-613-6310 ✉ ankit.desai@duke.edu
- Eleanor Rodriguez-Rassi, MPH 📞 919-613-1219 ✉ eleanor.rodriguezrassi@duke.edu
Participating sites (1)
- Duke University Medical CenterRecruiting
Durham, North Carolina, 27710 · United States
- Ankit K Desai, MBBS · 919-613-6310 · ankit.desai@duke.edu
- Eleanor Rodriguez-Rassi, MPH · 919-613-1219 · eleanor.rodriguezrassi@duke.edu
- Priya S Kishnani, MD
Terms used on this page · explanations by MedicalUpdates.ai
- natural history study
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- immunosuppressive
- A medicine that reduces the activity of the immune system. Studies of autoimmune conditions often require a stable dose, a prior failure, or a washout of such medicines.
- written informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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