Pompe Disease

Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease (AAV9-GAA_IM)

Evaluation of Re-administration of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV9-DES-hGAA) in Patients With Late-Onset Pompe Disease (LOPD)

About: A recombinant AAV vector has been generated to carry the codon-optimized acid alpha-glucosidase (coGAA) gene expressed from a human desmin enhancer/promoter (DES). The proposed clinical trial is a within-participant, double-blind, randomized, phase I controlled study evaluating the toxicology, biodistribution and potential activity of re-administration of rAAV9-DES-hGAA injected intramuscularly into the TA. Nine participants (18 to 50-years old) who reside within the United States with Late-Onset Pompe Disease (LOPD) will be included. The goal of the immune modulation strategy is to ablate B-cells (Rituximab and Sirolimus) prior to the initial exposure to the study agent in one leg and the subsequent exposure of the same vector to the contralateral leg after four months. At each study agent dosing, the contralateral leg will receive excipient. Patients will act as their own controls. Repeated measures, at baseline and during the following 3 months after each injection, will assess the safety, biochemical and functional impact of the vector.

Ages Eligible for Study:    18 Years to 50 Years   (Adult)
Sexes Eligible for Study:    All

Status: Actively Recruiting Participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating please contact:

Samantha Norman
Clinical Study Coordinator

 

Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

About: Respiratory function is measured over two days through standard pulmonary tests, respiratory endurance testing, and an MRI of the diaphragm.

Ages Eligible for Study:    20 Years to 60 Years   (Adult)
Sexes Eligible for Study: All
Accepts Healthy Volunteers:    Yes

Status: Actively Recruiting Participants. Accepting Transfers.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating please contact:

Jessica Ehrbar
Clinical Study Coordinator

 

Response to Diaphragmatic Pacing in Subjects with Pompe Disease

About: This study follows people with Pompe Disease who are receiving diaphragm pacemaker for six months following implantation to assess changes in their breathing function.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

Ages Eligible for Study:    2 Years to 65 Years   (Child, Adult)
Sexes Eligible for Study:    All

Status: Actively Recruiting Participants. Accepting Transfers.

If you are interested in participating please contact:

Jessica Ehrbar
Clinical Study Coordinator

 

NEO-EXT: NeoGAA Extension Study

An Open-Label, Multicenter, Multinational Extension Study of the Long-Term Safety and Pharmacokinetics of Repeated Biweekly Infusions of NeoGAA in Patients with Pompe Disease 

About: Subjects must have previously completed the neoGAA study.  The total duration of the study is 6 years.  The study involves biweekly infusions of NeoGAA, monthly blood draws, pulmonary function tests (every 6 months), 6 minute walk tests (every 6 months), an MRI and a muscle biopsy (every two years).

Ages Eligible for Study:    Child, Adult, Senior
Sexes Eligible for Study:    All

Status:  This study is ongoing, but not recruiting participants. Accepting Transfers.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating in this study or have questions about this research please contact:

Tina Cousins
Clinical Research Coordinator

 

Genzyme Ten-Year Study

A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Alglucosidase Alfa.

About: Pompe disease is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective of this study is to evaluate the long-term growth and development of patients with infantile-onset Pompe disease with alglucosidase alfa before 1 year of age. Patients will be followed for 10-year period.

Ages Eligible for Study:    up to 24 Months   (Child)
Sexes Eligible for Study:    All

Status: This study is ongoing, but not recruiting participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating in this study or have questions about research, please contact:

Anneska Atzinger
Clinical Research Coordinator 

 

Diet and Exercise Study

About: This 7 month study investigates the use of prescribed diet and exercise in Pompe disease. Subjects complete 4 months of a regular diet and exercise program, with 4 visits to the study site before and after the program.

Ages Eligible for Study:    15 Years to 55 Years   (Child, Adult)
Sexes Eligible for Study:    All

Status: Actively Recruiting Participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating please contact:

Samantha Norman
Clinical Research Coordinator 

 

Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa (COMET)

A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatment-naïve Patients With Late-onset Pompe Disease

About: Primary Objective: To determine the effect of neoGAA (GZ402666) treatment on respiratory muscle strength measured by percent predicted forced vital capacity (% FVC) in the upright position, as compared to alglucosidase alfa.

Secondary Objective: To determine the safety and effect of neoGAA treatment on inspiratory muscle strength (maximum inspiratory pressure (MIP)), expiratory muscle strength (maximum expiratory pressure (MEP)), functional endurance (6-minute walk test (6MWT)), lower extremity muscle strength (hand-held dynamometry (HHD)), motor function (Quick Motor Function Test (QMFT)), and health-related quality of life (SF-12).

Ages Eligible for Study:    3 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study: All

Status: Actively Recruiting Participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating in this study or have questions about this research please contact:

Tina Cousins
Clinical Research Coordinator

 

Pompe Disease Registry

About: The Pompe Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Pompe disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient’s treating physician.

The objectives of the Registry are:

  • To enhance the understanding of the variability, progression, and natural history of the key manifestations of Pompe disease;
  • To assist the Pompe medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care;
  • To characterize and describe the Pompe disease population as a whole; and
  • To evaluate the long-term effectiveness and safety of available treatment options including ERT(Enzyme Replacement Therapy) with Myozyme®.
Ages Eligible for Study:    Child, Adult, Senior
Sexes Eligible for Study:    All

Status: Actively Recruiting Participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating in this study or have questions about this research please contact:

Samantha Norman
Clinical Research Coordinator

 

A Study in Subjects With LOPD Who Are Currently Being Treated With ERT

A Prospective Non-interventional Study in Subjects With Late Onset Pompe Disease Who Are Currently Being Treated With Enzyme Replacement Therapy

About: The purpose of the study is to evaluate changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in late-onset Pompe disease (LOPD) subjects receiving standard-of-care enzyme replacement therapy (ERT). Additionally, information gained may be used in the design and conduct of future studies in LOPD subjects.

Ages Eligible for Study:   18 Years to 75 Years   (Adult, Senior)
Sexes Eligible for Study:    All

Status: Actively Recruiting Participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating in this study or have questions about this research please contact:

Norane Shehab
Clinical Research Coordinator

 

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

An Open-Label, Fixed-Sequence, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of Intravenous Infusions of ATB200 Co-Administered With Oral AT2221 in Adult Subjects With Pompe Disease

About: This study is an international, multi-center, study of Pompe disease patients that are currently receiving enzyme-replacement therapy (ERT). The purpose of this study is to find out if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.

Ages Eligible for Study:    18 Years to 75 Years   (Adult, Senior)
Sexes Eligible for Study:    All

Status: Actively Recruiting Participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating in this study or have questions about this research please contact:

Norane Shehab
Clinical Research Coordinator