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

Pharming Press release of 3 May 1999

Another bit of primary source - a Pharming Press release (edit: since added as a comment, rather than as a blog entry. That's where I'll put such material from now on. Like a footnote.)

Some interesting undercurrents here. Firstly, the competition with Synpac (see next entry) seemed to drive Pharming towards 'talking up' the trials to investors. No wild claims, of course,  but perhaps making sure that investors in their stock hung on. Interesting to note that the Belgian government put a large sum towards the building of the plant in Geel. That PR investment obviously paid off!

We began to see though that there was some tension between the needs of Pharming as a business, the principles of the scientists involved and the thirst for knowledge amongst the patient community. There was a substantial overlap between all three, of course - however those tensions would also grow and would need careful management in the years ahead.

There were changes in the Genzyme/Pharming relationship too. We were told that communication would in future be through the local Genzyme representative, rather than through Gerben Moolhuizen at Pharming. This made some sense - it freed up Gerben for the work he was supposed to be doing - but also raised the potential for divide and rule. Plus, as rapidly became clear, our connections with scientists, doctors and indeed within the various companies, meant that the patient representatives were usually better informed about the Pompe project than the local country reps, who had a wide range of responsibilities.  We would soon evolve a system where local reps dealt with individual patients and Genzyme HQ dealt with the representative organisations.

For entirely unconnected reasons, Gerben Moolhuizen left to pursue his career elsewhere at the end of May 1999. I, like many others, was sorry to see him go.

Tellingly, his place as a patient representative contact was taken by someone from Genzyme - Andrew Curtis. Another good guy, by the way.


  1. Pharming Group N.V. Reports Q1 Earnings 1999
    Phase II Clinical Trial for Pompe’s Disease on Track

    Leiden, The Netherlands, May 3, 1999 – Pharming Group N.V. (Easdaq:
    PHAR) today announced financial results for its first quarter ended March
    31, 1999.

    Pharming reported that revenues for its first quarter of 1999 increased to
    EUR 1.9 million, from EUR 0.1 million in the first quarter 1998. The revenues
    comprised payments from corporate partners. Expenses increased in Q1
    1999 to EUR 5.6 from EUR 3.7 million in Q1 1998 reflecting, amongst other
    factors, the continued development of human alpha-Glucosidase for the
    treatment of Pompe’s disease. Net loss for the first quarter amounts to EUR
    3.1 million, compared to EUR 3.6 million in the same period in 1998
    (excluding exceptional charges in Q1 1998 of EUR 7.1 million for acquired

    As of March 31, 1999, Pharming had cash and cash equivalents of EUR
    67.4 million, primarily invested in term deposits. Pharming believes that its
    current cash position will allow it to reach its next phase of development,
    namely the market launch of its lead biopharmaceutical product human
    alpha-Glucosidase for Pompe’s disease, as well as further developing its
    product portfolio.

    Highlights Q1

    Phase II clinical trial for Pompe’s disease on track
    Second US Orphan Drug Designation for human C1 Esterase inhibitor
    Cattle transfer from The Netherlands to Finland completed
    First patent for transgenic animal technology in Japan
    EUR 2.7 million grant from Flanders Government to support
    expansion of Pharming’s facilities in Geel, Belgium

    Product Development

    In the first quarter of 1999, patients were enrolled in the first-ever
    study of human alpha-Glucosidase to treat Pompe’s disease at the Sophia
    Children’s Hospital in Rotterdam, the Netherlands. The pilot Phase II trial
    includes juvenile and infantile patients. Each patient in the trial will be
    treated for six months. The infantile segment of this study is fully underway.
    On basis of observations from the current Phase II Clinical Study, we expect
    to expand the current trial also at other centers in the second quarter. An
    interim update with respect to this study can be expected later in the
    second quarter of 1999. This study will be followed by pivotal trials expected
    to begin in mid 1999 in Europe and the US. This program is the focus of a
    joint venture between Pharming and Genzyme General to develop and
    commercialize world-wide the enzyme human alpha-Glucosidase as a
    treatment for Pompe’s disease, a lethal hereditary muscle disease. Human
    alpha-Glucosidase has been designated an Orphan Drug by the US Food
    and Drug Administration (FDA). Upon successful completion of the
    development program, the Pharming/Genzyme joint-venture will obtain 7
    years of market exclusivity in the US once its product receives marketing
    approval from the US FDA.

    In the first quarter of 1999, Pharming obtained its second Orphan Drug
    Designation from the US FDA for recombinant human C1 Esterase inhibitor,
    in both prophylaxis and acute treatment of hereditary and acquired
    angioedema. Hereditary angioedema (HAE) is an autosomal dominant
    disorder that results in a deficiency of functional human C1 Esterase
    inhibitor. The deficiency causes a runaway reaction of the immune system
    and clinical symptoms include swelling of the skin, abdominal organs, and
    upper airway tract. Hereditary angioedema seriously affects quality of life
    and can lead to life-threatening complications. The number of patients in the
    western world suffering from HAE is estimated to be between 10,000 and

  2. Patents

    Pharming received its first patent for transgenic animal technology in Japan
    from the Japanese patent office, covering the use of casein promoters for the
    production of biopharmaceuticals in the milk of transgenic animals. In addition, Pharming’s received its 10th US patent, covering the purification of human Lactoferrin from milk. The total number of patents increased to 22, while at year-end 1998 the number was 19.

    Corporate Affairs

    Pharming N.V., the Belgium subsidiary of Pharming, received a grant of EUR 2.7 million from the Flanders Government to expand facilities and product development programs in Geel, Belgium, particularly the
    construction of a state-of-the-art plant for the purification of biopharmaceuticals from the milk of transgenic rabbits.

    AEX Listing

    In view of unfavourable stock market conditions for biotechnology companies
    world-wide, Pharming postponed its co-listing on the Amsterdam Exchanges until further notice. Pharming has been quoted on the pan-European exchange EASDAQ since July 2, 1998.

    "Pharming has had a strong start to the year, and our lead programme, the Phase II clinical trial with human alpha-Glucosidase for Pompe’s disease, is progressing well," said George J. M. Hersbach, President and Chief
    Executive Officer of Pharming Group N.V. "We also received our second Orphan Drug Designation for human C1 Esterase inhibitor, which is very good news for our product development portfolio and testimony to the
    excellent performance of our Orphan Products business unit. Pharming has a very strong cash position that will allow us to support the market launch of human alpha-Glucosidase, and to further develop our product portfolio."

    Pharming focuses on the development, production and world-wide commercialisation of human therapeutic proteins, produced at high levels in the milk of transgenic animals that have been generated using the Pharming’s proprietary technology.

    Statements included in this press release which are not historical in nature are intended to be, and are hereby identified as, "forward-looking statements" for purposes of the safe harbour provided by Section 21E of the Securities Exchange Act of 1934, as amended by the Private Securities
    Litigation Reform Act of 1995. Forward-looking statements may be identified
    by words including "anticipates", "believes", "intends", "estimates",
    "expects" and similar expressions. The company cautions readers that
    forward-looking statements, including without limitation those relating to the
    company's future operations and business prospects, are subject to certain
    risks and uncertainties that could cause actual results to differ materially
    from those indicated in the forward-looking statements. Factors that could
    cause actual results and future operations and business prospects to
    materially differ from those anticipated in these forward looking statements
    include, but are not limited to, clinical and scientific results and
    developments concerning corporate collaborations and the company's
    proprietary rights and other known and unknown risks including risk factors
    described in the prospectus relating to the company's recent initial public
    offering. Pharming Group N.V. cautions readers not to place undue reliance
    upon any such forward-looking statements, which speak only as of the date
    made. Pharming expressly disclaims any obligation or undertaking to
    release publicly any updates or revisions of such statements to reflect any
    changes in Pharming’s expectations or any change in events, conditions or
    circumstances on which any risk statement is based.

  3. "Here is an additional resource about the genetics of Hereditary Angioedema: http://www.accessdna.com/condition/Hereditary_Angioedema/772. I hope it helps. Thanks, AccessDNA"