Meeting industry halfway on orphan diseases

Credit: Tracy Hunter (via Flickr)

Earlier this week we discussed why, though it may seem counterintuitive, orphan diseases are now good business for Big Pharma. To the delight of hospitals like ours, which care for children with rare diseases lacking good treatments, industry is starting to come to the table. It now falls to us to lay out the banquet.

What needs to be on the table? The main course has to include sound science that can produce robust and compelling drug targets, experience with a variety of rare diseases – both clinical and scientific – and a population of patients anxious to try new treatments, collected all in one place.

At the Orphan Disease Symposium hosted yesterday by the Technology & Innovation Development Office at Children’s, along with Manton Center for Orphan Disease Research, Pediatrician-in-Chief Gary Fleisher, MD, outlined the breadth of both our research enterprise and our patient population.  Many of these patients’ syndromes are well documented with clinical data and DNA and tissue samples – a situation ideal for doing laboratory research on the disease and also for conducting clinical drug trials.

But in addition to good food, there has to be good service. We need to do more of the work for our business partners, pulling the most promising discoveries out of the weeds and helping turn them into treatments. That means infrastructure. Animal models – mice, fruit flies, zebrafish, large animals – to discover and validate targets, and to screen libraries of prospective drugs. Human disease-specific stem cells for screening drugs and modeling the disease in a dish. Bioinformatics to find needles in haystacks of data. DNA registries, tissue banks and urine banks supported by useful clinical information. Strong partnerships giving access to data and samples from families all over the world.

Children’s now has a protocol, approved by its Institutional Review Board, to enroll all consenting patients with a rare or orphan condition into a registry. This allows patients to be rapidly recruited for genetic analyses, but also for clinical studies and trials of any treatments arising from research findings. We are also fortunate to house a Clinical and Translational Study Unit, which provides the space, staff and equipment (some very specialized) to do the patient assessments and medical procedures needed.

And in addition to good service, there needs to be a well-equipped kitchen to restock the buffet. That means supporting promising scientists and projects and getting them over the hump until the large grants start to come in. The Manton Center, for example, has an Innovation Fund for junior faculty working on orphan diseases. Seed money is also available from the Translational Research Program and the Technology Development Fund to facilitate preclinical and ultimately human translational trials of treatments. The Clinical Research Program offers grants and practical advice on study design, biostatistics and more, and a new “Innovestment” program offers small grants to support patient-care innovations, taking them from drawings on a napkin to a prototype or pilot that can be assessed quickly for feasibility.

It’s too soon to be able to report any actual results from this week’s symposium (read: business deals), but there was definitely a buzz in the air, energized conversations at lunch, and serious note-taking, not snoozing, during the sessions. Academia or industry, we are all here for the same reason, to develop treatments for rare and devastating diseases in children. Let’s make it happen.