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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Tuesday, 15 December 2009

The first clinical trials

Pharming got off to a quick start, announcing the start of Phase I clinical trials on 15 April 1998. This stage of clinical trials involves dosing healthy human volunteers to check of toxic effects. Even so, the effect was electrifying - wow these guys really do mean business!

Of course it was difficult for so many people to be so close and yet so far. Many adults were suffering terribly from the effects of the disease. Yet it was understood by all that the best way forward was for trials to be carried out on infants, as that was the quickest way to demonstrate the efficacy of the product - if, of course, there was any.

This was followed in July by the news that Pharming had entered into a partnership with Genzyme to produce the Pompe ERT. This immediately seemed like good news. After all, Genzyme already produced the successful ERT for Gaucher disease. I was surprised, given Genzyme's apparent past lack of interest in Pompe, however I assumed that the prospect of another company moving into 'their' market (the Gaucher product was very profitable) had galvanised them into action.

And we were aware of the Synpac/YT Chen connection, although lines of communication were more difficult to open with then. That said, someone from their UK office, Ian Hodgson, did come to the AGSD-UK's 1998 conference in Oxford. I found Ian to be genuinely enthused about the project, though I suspect that Synpac weren't more forthcoming with him than they were with us! However Ian did manage to secure us some Synpac sponsorship for the conference, so good on him.

Of course, the intense interest in the clinical trials made the role of patient groups even more important. The pharmaeutical companies quickly realised that we were an essential gateway to their customer base. We allowed them to manage communications in a structured way, rather than trying to deal with hundreds of individual letters, emails and phone calls from individual patients.

The relationship with Pharming in particular was a very good one, with a degree of openness and trust. That developed over time, of course, however there was a real sense that we were all on the same side, working towards a common goal. And I'm sure that the same would have been true of Synpac, had they spoken to us.

1 comment:

  1. The Pharming-Genzyme deal was formalised in October:

    TITLE: Genzyme General and Pharming Form Joint Venture to Develop Treatment
    for Pompe's Disease

    DATE: October 14, 1998

    Genzyme General (Nasdaq:GENZ) and Pharming Group N.V. (EASDAQ:PHAR) today announced the formation of a joint venture to develop and commercializeworldwide the enzyme human alpha-glucosidase as a treatment for Pompe's
    disease, a fatal lysosomal storage disorder. The companies originally announced their intention to form the joint venture in July, when Genzyme also made a $14 million equity investment in Pharming.

    Under the terms of the agreement, Genzyme will fund up to $14 million of development costs for alpha-glucosidase, which is produced in the milk of transgenic rabbits. The companies will equally fund joint venture development costs in excess of $14 million. Pharming will receive from Genzyme a one-time
    $7 million milestone payment on receipt of full approval of a BLA for alpha-
    glucosidase by the U.S. Food and Drug Administration.

    Pompe's disease is caused by a complete or partial deficiency of the enzyme human alpha-glucosidase. The disease results in a build-up of glycogen in various muscles and organs of the body, leading to fatal muscle
    degeneration. Genzyme and Pharming believe that administration of human alpha-glucosidase to patients suffering from Pompe's disease could alleviate or eliminate symptoms.

    Pompe's disease, also known as acid maltase deficiency or glycogen storage disorder type II, affects an estimated 5,000-10,000 people in the Western world. Clinical forms of Pompe's disease vary according to the age of onset and progression of symptoms.

    In June, Pharming announced preliminary results from a completed phase I clinical trial with human alpha-glucosidase. The trial was designed to determine the safety, tolerability, and pharmacokinetics of the compound in healthy volunteers. Based on the results obtained in the phase I trial and
    preclinical studies, the joint venture expects to commence phase II/III
    clinical trials by the end of 1998.

    In September 1996, Pharming received orphan drug designation for human alpha-glucosidase, which would provide market exclusivity in the U.S. for seven years following FDA approval.

    Genzyme General develops and markets therapeutic and surgical products and
    diagnostic products and services, including Cerezyme(R) and Ceredase(R) enzyme
    replacement therapies for the treatment of Gaucher's disease, a rare, genetic
    lysosomal storage disorder. A division of the biotechnology company Genzyme
    Corp., Genzyme General has its own common stock intended to reflect its value
    and track its economic performance.

    Pharming focuses on the development, production and worldwide commercialization of human therapeutic proteins, produced at high levels in the milk of transgenic animals that have been created using the company's
    proprietary technology.

    This press release contains forward-looking statements about potential therapeutic uses and effects of human alpha-glucosidase, the potential use of transgenic technology, the expected timing of phase II/III clinical trials of human alpha-glucosidase, the potential market exclusivity for human alpha-
    glucosidase, the potential market size for human alpha-glucosidase, and a
    potential milestone payment to be made upon receipt of FDA approval. Actual
    results may differ materially depending on the actual therapeutic effect of
    human alpha-glucosidase, whether such phase II/III trials are initiated, the
    actual timing and results of clinical trials, the actual timing and content of
    regulatory submissions and decisions of the FDA, and the accuracy of the
    companies' information about the size of the Pompe's disease population and
    competitors' products