Working with rare diseases means innovation is a way of life, says Pol Boudes, chief medical officer at Amicus Therapeutics in Cranbury. He will be one of three speakers at the BioNJ Breakfast Briefing on Wednesday, October 5, at 7:30 a.m. at the Conference Center at Robert Wood Johnson in Hamilton. Cost: $65 For more information on the event go to

The conference’s highlight is “Innovation in Clinical Trials, Overcoming Challenges in Study Start-Ups.” Joining Boudes are Jean-Pierre Bizzari, vice president of clinical research oncology at Celgene Corporation, who will discuss the need for innovation in oncology clinical trials; Craig Lipset, head of clinical innovation at Pfizer; and Spiro Rombotis, president and CEO, Cyclacel Pharmaceuticals. Boudes will discuss innovation in clinical trials for rare diseases.

Boudes joined Amicus Therapeutics in 2009 after more than 15 years in clinical drug development. He was instrumental in obtaining registration for multiple drugs in the fields of women’s health, osteoporosis, dermatology, and AIDS/HIV infection, both in the United States and worldwide.

Boudes received his M.D. from the University of Aix-Marseilles in France. He completed his internship and residency in Marseilles and Paris and was an assistant professor of medicine at the University of Paris, where he specialized in endocrinology, internal medicine, and geriatric diseases.

Prior to joining Amicus, Boudes worked at Bayer HealthCare Pharmaceuticals following its merger with Berlex, and at the Wyeth-Ayerst Research division of Wyeth, both in Philadelphia. He worked in Europe with Hoffmann-La Roche and Pasteur-Merieux, now a part of Sanofi-Aventis.

#b#New ways to measure effectiveness#/b#. Because working with rare diseases means working with small numbers of people, it is important for researchers to find new ways to measure the effectiveness of a medication, says Boudes. “When you are working with a disease that is common, such as diabetes, you can have a clinical trial with 10,000 people.” With rare diseases you are often working with fewer than 100.

Amicus Therapeutics was founded by John Crowley when he wanted to research ways to treat Pompe disease, a rare deficiency in the enzyme that breaks down glycogen (and which affected two of his three children). But the firm also studies ways to fight Fabry disease, a genetic disease with an incidence of about one in 40,000. Most of the systems of Fabry disease are caused by the build-up of globotriaosylceramide (or GL-3) within various organs of the body. It is often necessary to manage these symptoms on a system-by-system basis, consulting with specialists for each affected organ.

The disease often results in kidney and heart problems as well as complications in the brain and gastrointestinal symptoms, Boudes says. Instead of working to treat the symptoms, Amicus is developing an oral capsule that corrects the deficient enzyme in the body. “This is a process that has never been attempted before,” he says.

To develop data on the effectiveness of the new drug it has been necessary to also develop new ways to study its effects on the body. Since Fabry disease affects the kidneys, studying the renal function is an important part of the clinical trials. Unfortunately, says Boudes, traditional studies of renal function can take several years to complete. Amicus has developed biomarkers that can be studied through a kidney biopsy and measure results in a six-month period, significantly speeding up the time needed to develop data. “It is a more precise way of measuring,” Boudes says.

#b#Working with the FDA#/b#. The FDA must make sure that every medication is safe and effective. “The FDA likes diseases like diabetes,” says Boudes, “because the large number of people who suffer from the disease means that there is also a large amount of data available about it.” That is not the case with diseases such as Fabry.

“One principle of regulators is that they like to see the same things, the same types of studies that have been done before. They do not want to see innovation,” he says.

While the FDA prefers placebo studies (studies in which a certain percentage of the test population is given a placebo rather than the active drug) there are ethical considerations that make it difficult to do placebo control studies in a small test population. “You cannot give a placebo treatment to a patient if there is considerable risk or if another treatment is available,” he adds.

Another problem when working with rare diseases is that researchers must find patients throughout the world, rather than just in one location. In the Fabry disease study, Amicus is working with patients on every continent in a total of 37 locations.

As a doctor, Boudes was drawn to working with rare diseases because of the personal interaction with the patients. “With a disease like Fabry, there are so few people who have it that they must band together for information and education as well as for help and for legislation,” he says. “It is important to remember to always put the patient first.”

Working with rare diseases means that everything involved in the project is innovation. “Innovation is our mantra,” he says.

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