Recruiting

Observational Study

Sponsor:

Duke University

Code:

NCT01665326

Conditions

Pompe Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Observational

Study Details

Brief summary:

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

Pompe Disease

Study ID

NCT01665326

Start date

Sep, 2009

Status verified date

Apr, 2026

Completion date

Mar, 2029

Anticipated

Primary completion date

Mar, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease
  • Must provide a written informed consent

Study Design

Enrollment

400 participants

Anticipated

Interventions and Outcome Measures

Arms

Infantile Pompe disease

Individuals with a confirmed diagnosis of Infantile Pompe disease

Interventions

Observational

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).

Primary outcome measure

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

Central Contacts and Locations

Central contacts

Ankit K Desai, MBBS

919-613-6310ankit.desai@duke.edu

Eleanor Rodriguez-Rassi, MPH

919-613-1219eleanor.rodriguezrassi@duke.edu

Locations

Duke University Medical Center

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Ankit K Desai, MBBS

919-613-6310ankit.desai@duke.edu

Eleanor Rodriguez-Rassi, MPH

919-613-1219eleanor.rodriguezrassi@duke.edu

Principal Investigator:

Priya S Kishnani, MD

More Information

Sponsor

Duke University

Last update posted

Apr 8, 2026

Last verified

Apr, 2026

Keywords

  • Pompe disease
  • Glycogen Storage Disease Type II
  • Acid Maltase Deficiency
  • CRIM Status
  • Acid Alpha-Glucosidase Deficiency
  • Alglucosidase alfa
  • Myozyme
  • Enzyme replacement therapy
  • Immune Tolerance Induction
  • Lumizyme
  • Immunomodulation
  • Anti-drug antibodies

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Duke University on 2026-04-08.