Dr J C Pompe

Dr J C Pompe
Discoverer of Pompe disease

About this blog

What you can read here is the story of the development of enzyme replacement therapy (ERT), the first effective treatment for Pompe disease. It is an incredible story, rich with events, characters and science. Above all, it is the story of an international community of scientists, doctors, patients and companies, working together towards a common goal.

It is not a story that features in Geeta Anand's book, The Cure , or the film based on it, Extraordinary Measures despite the fact that they are ostensibly about the development of ERT for Pompe ( you can link straight to the relevant articles covering the events described in the book and film here, here and here).

This blog represents my small attempt to set the record straight and to give the story back to its rightful owners - the international Pompe community. It is written here in roughly chronological order i.e. you'll need to start at the bottom of the April 2009 archive page and work your way up.

It is also a personal account and, although I've tried to make it as objective as possible, there is an inevitable degree of subjectivity. For that reason I have included contributions from other members of the worldwide Pompe community and would be delighted to receive more. Feedback is also welcome.

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Monday, 21 December 2009

The dark horse enters the race

On 25 May, a press release from Duke University announced the start of a new set of clinical trials. Again, this would involve a small number of patients, this time using an enzyme produced using cell culture methods. Another primary source(edit: have moved to the comments section). As previously noted, this meant that there was now real competition, with a race to be first to announce results and to commercialise the product.

At the time I thought this competition was a good thing. With hindsight...not so sure.


  1. Pompe Disease Therapy to be Tested

    By Duke Medicine News and Communications

    DURHAM, N.C. -- Duke University Medical Center has announced the beginning of Phase I/II clinical trials to test an enzyme replacement therapy for Pompe disease, an inherited glycogen storage disease that is usually lethal in children but afflicts people of all ages.

    Pompe disease is rare, affecting approximately one child in 100,000. If symptoms appear during infancy, death usually occurs before the age of 2. The disease is usually less severe when symptoms first appear late in childhood, but life expectancy extends only into the second or third decade in such cases. Adults can be affected by a milder form of the disease but are still incapacitated.

    Pompe disease is caused by the lack of an enzyme that breaks down glycogen into glucose, a primary source of energy. In patients with the disease, glycogen accumulates, destroying skeletal, heart and lung muscles. The enzyme replacement therapy, to be administered by infusion, is intended to restore glycogen levels in muscle tissue to normal. The treatment, if successful, will be required for the remainder of a patient's life.

    The Phase I/II clinical trials will be conducted at Duke Medical Center under the supervision of Dr. Y.T. Chen, chief of the division of medical genetics in the department of pediatrics. Chen is the principal investigator on an Investigational New Drug (IND) application on file with the Food and Drug Administration.

    Chen's team at Duke spent more than five years developing the recombinant enzyme and has shown that the enzyme helps relieve symptoms of Pompe disease in animals.

    Chen said he was delighted to see the research team's laboratory work become something with a real potential to help families affected by this disease.

    "This is something we have been working toward for quite some time," Chen said. "Everyone in the division has been eagerly looking toward this date, and we are pleased to be able to move our work forward to this next step."

  2. In anticipation of this clinical trial, Chen has assembled a comprehensive team of medical professionals. In addition to physicians Dr. Andrea Amalfitano; Dr. Priya Kishnani; and Dr. Dietrich Matern, the Pompe team is composed of David Millington, Ph.D., director of the Duke mass spectrometry laboratory; Joanne Mackey, a pediatric nurse practitioner; and Jennifer Sullivan, a genetics counselor -- all members of the Division of Medical Genetics. Duke physicians Dr. Richard Morse, in pediatric neurology; Dr. Marc Majure, in pediatric pulmonary; and Dr. Resai Bengur, in pediatric cardiology, also will contribute their expertise to the project.

    "We are proud to have played a role in encouraging and supporting this work," said Dr. Michael Frank, chairman of the medical center's department of pediatrics. "With the addition of the new McGovern-Davison Children's Health Center to the Duke Health System, we hope to continue our department's rewarding relationship between scientific research and clinical medicine."

    The Phase I/II clinical trial is expected to last six months and will, for the first time, test both the safety and efficacy of this product in humans. Up to three infants who meet the admission criteria for the trial will be treated with the genetically engineered form of the enzyme.

    Synpac (North Carolina) Inc., a drug development company in Research Triangle Park, and its parent company, Synpac Pharmaceuticals Ltd. of Cambois, England, have supported the research at Duke and the production of clinical grade material, which have made the new therapy possible. Synpac will fund the Phase I/II trial at Duke. If this initial trial is successful, Synpac is expected to extend the infant trials into a Phase III clinical trial and will plan clinical trials in juveniles.

    "We are delighted to have this great opportunity to collaborate with Dr. Y.T. Chen and Duke University to develop potential therapy for this dreadful disease," wrote Leslie Koo and Dr. Andrew Huang, leaders of Synpac (North Carolina) Inc., in a joint statement. "This joint effort combines the best of academia and industry for the benefit of society."