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Infantile-Onset Pompe Disease (IOPD):

Baby-COMET, a clinical study in infants who are not taking any medications for IOPD.

Watch a video to learn more about this clinical study for IOPD.  

Is my infant eligible?

What is Pompe Disease?

Pompe disease can affect both children and adults. The infant form of Pompe disease, called infantile-onset Pompe disease, or IOPD, is the most severe form of the disease. In IOPD, newborns have symptoms within the first few months of their life.

Pompe disease is a rare genetic disease. It is sometimes also called acid alpha-glucosidase (GAA) deficiency or type II glycogen storage disease (GSD).

Pompe disease occurs when the body does not make enough of an enzyme called acid alpha-glucosidase (GAA). This enzyme is necessary to break down a big sugar molecule, called glycogen, into glucose the body uses for energy. But if the body is not able to make GAA, or if this enzyme does not work properly, then too much glycogen builds up in the body. This damages muscles as well as the heart, and causes problems such as muscle weakness, breathing difficulties, and heart problems.  Infants with Pompe disease, if left untreated, die before two years of age.  

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What is a clinical trial?

Clinical research studies are used to show if/how an investigational drug works and to find out if it is safe. They can also be referred to as clinical research trials.  Clinical studies are run by qualified healthcare professionals. The doctors and other healthcare providers are responsible for the study-related care of the people that participate (or enroll) in these studies. Clinical research studies are a mandatory part of the process that leads to health authority review and approval which is required before a drug can be marketed.

Independent committees (called Institutional Review Boards or IRBs) are made up of medical and nonmedical people who also watch over clinical research studies to make sure that the people who enroll are properly and adequately informed and consent to study participation.

What is the Baby-COMET study?

The purpose of the Baby-COMET study is to evaluate an investigational medication for the treatment of the infant form of Pompe Disease (IOPD).

If enrolled in this study, your infant will participate for up to four years with study visits approximately every two weeks. During these visits, your infant will receive the investigational medication in addition to study-related procedures, such as physical exams, blood tests, electrocardiograms, echocardiograms, and questionnaires. 

The study is organized to have a screening period up to 28 days, an initial investigational treatment period lasting one year  (additional 28 visits), an extension investigational treatment period lasting one year (additional 26 visits), and an extended long term investigational treatment period of two years (additional 52 visits).  Following these study treatment periods your infant will have one additional study visit, approximately 4 weeks after the last dose of investigational medication, for your study doctor to make a final assessment of safety and study treatment effects. Your infant may discontinue study participation at any time.

The use of the drug in the Baby-COMET study is investigational.  The safety and efficacy have not been established and are being investigated in this trial.

What is involved with study participation?

Your infant will have regular visits over four years with doctors and/or healthcare professionals for monitoring changes in Pompe disease and overall health. These visits are scheduled in advance and without the need for waiting for lengthy periods. Thus, there will be regular assessments and testing which ensures that any changes in their health status are identified immediately, so that they can be addressed appropriately in a timely manner.

You and your infant do not need medical insurance to participate in this study. There will be no cost for study-related exams, investigational medication or other study-related medical care. The study may offer compensation in return for travel. There may also be educational opportunities and support available throughout the study relating to Pompe disease.

Also, you should know that your infant's participation is voluntary and you will have the right to stop the participation of your infant from the study at any time. Your infant will continue to be followed-up normally, by your own doctor.

National Institute of Neurological Disorders and Stroke - Pompe Disease Information Page,  27March2019.  Accessed at on 06July2021.

National Organization for Rare Disorders (NORD) - Pompe Disease, 2020.  Accessed at on 06July2021.

MAT-US-2201206 V2.0 Expiration Date: 02/28/24

Images are not real patients.  Photo: Getty Images (UK) Ltd