The Pompe Disease Registry and How It Can Help Your Child

The Pompe Disease Registry and How It Can Help Your Child
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If your child has Pompe disease, you may consider enrolling them in the ongoing Pompe disease registry

Among other things, the information that researchers collect though this registry is likely to help them better understand and treat inherited metabolic disorders like Pompe.

The registry

Sanofi Genzyme sponsors and administers the Pompe disease registry (NCT00231400), which it launched in 2001 and is expected to run through 2034. It is the largest patient registry dedicated to this rare disorder, which affects about 1 in 40,000 people in the U.S.

Sanofi designed the global and observational registry  to collect clinical data about the identification, onset, progression, and treatment course of Pompe disease across up to 2,000 patients. Participants are not given any new or experimental therapies, and it is not necessary to be on treatment to take part in this registry.

What are the registry’s goals?

Set up to record natural history, treatments, and clinical outcomes across people with Pompe disease, the registry has four aims:

  • Help improve understanding of the course of Pompe disease
  • Help develop care recommendations
  • Learn more about those who develop the disease
  • Gather more information about different treatments for Pompe, including Lumizyme (alglucosidase alfa), an enzyme replacement therapy (ERT) by Sanofi. Lumizyme  is the first ERT for Pompe disease approved by the U.S. Food and Drug Administration (FDA).

Who can participate in the Pompe disease registry?

A doctor can enroll a child with a confirmed Pompe disease diagnosis in the registry; patients and families cannot enroll directly. Participation is voluntary, but those enrolled cannot be taking part in another Sanofi clinical trial.

How does the registry work?

Your child will continue receiving care and treatment as usual from their physician, who will send information gathered at these care visits to the registry.

The Pompe disease registry recommends that doctors perform a certain number of evaluations, like weight, blood pressure, chest X-rays and heart tests, and blood and urine tests, at regular intervals (every three or so months). Patients and families will also be asked to complete quality of life questionnaires.

If your child is using Lumizyme, the doctor will also regularly take blood samples and monitor levels of antibodies.

How might the registry help my child?

The registry permits communication and information sharing among clinicians and other Pompe specialists, which could result in a better standard of care for your child and others with this disease. Information from this study aims to help improve the diagnosis, treatment, and management of Pompe disease.

What about privacy?

The registry protects the confidentiality of your child’s information, assigning them a unique identification number. It does not collect any patient names.

Enrollment

Ask your child’s doctor if your child can participate in the registry; you may not enroll your child on your own. The registry will document the care given and assessments made during their routine treatment.

 

Last updated: May 11, 2020

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Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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