There was a moment at our recent Rare Disease Symposium when Dr. Michael Whyte, a pediatrician from Shriner’s Hospitals in St. Louis, presented video of a patient who is participating in a clinical trial. The patient, Amy, suffers from hypophosphatasia (HPP), a genetic bone disease similar to rickets. The trial is for an enzyme replacement therapy developed collaboratively by Dr. Whyte, Dr. José Luis Millán and Enobia Pharma to treat HPP. Before treatment, Amy’s bones were so soft she had to be flown to the trial in an insulated box. She was weeks away from dying. In the video, she runs, jumps and kicks a ball. Hard not to be moved.
Enobia’s HPP drug is in Phase II clinical trials and looks quite promising. However, rare diseases present a difficult problem. While relatively few people suffer from any single rare disease, there are thousands of these conditions. Large pharmaceutical and biotech companies have a difficult time addressing them because they have not figured out how to make back their investments. But the issues go even deeper. How do you conduct a robust clinical trial on a new treatment when only a handful of people need to be treated? And how do you balance the regulatory environment to ensure that new, safe treatments can reach patients? In fact, how do you even diagnose a rare disease when so few physicians have any experience with it?
The 2nd Annual Rare Disease Symposium, held on February 25 on our La Jolla campus, discussed all these issues and many more. On the regulatory side, Dr. Steve Groft, who directs the Office of Rare Diseases at NIH, spoke of the challenges of developing treatments and ways to overcome those challenges. Dr. Emil Kakkis, who founded the EveryLife Foundation to help reform the regulatory process, discussed translating research into treatments. Dr. Jannine Cody, from the University of Texas, San Antonio, who earned her Ph.D. to study Chromosome 18 conditions after her daughter was diagnosed with one, discussed the many ways parents can become involved in the fight against these conditions.
The disease presentations were equally enlightening. Symposium co-chairs Drs. Hudson Freeze and Yu Yamaguchi presented their work on Congenital Disorders of Glycosylation (CDG) and Multiple Hereditary Exostoses (MHE) respectively. Dr. Millán also joined Dr. Whyte for a Q & A on HPP.
More than a hundred people filled the auditorium, including scientists, patients, parents and advocates. Enobia flew in HPP families from all over the country. Some of the younger patients got restless while their parents listened to the presentations but their presence served as a powerful reminder of the urgency behind our mantra – From Research, the Power to Cure. The audience was international, as a live video webcast (also sponsored by Enobia), brought the proceedings to people around the world. Quite a few people sent in questions via the live feed to Drs. Whyte and Millán.
Through our research, collaborations and symposia, Sanford-Burnham is helping lead the charge against rare diseases. In his opening remarks Dr. Freeze announced the creation of The Rocket Fund, which will direct philanthropic gifts to Sanford-Burnham rare disease research.
To learn more about the symposium, read Treating rare diseases: A job for patients and parents (North County Times) and listen to Orphan diseases look for parents with a cure (KPBS).