NO MATTER WHO YOU are in the world of rare diseases, you’ve probably heard his name. Revolutionizing the care and research of uncommon diseases, this friendly but formidable force behind the NIH’s Office of Rare Diseases Research in the National Center for Advancing Translational Sciences (NCATS) has steadily built an infrastructure to support the study and discovery of new treatments for patients nation-wide.
Over the course of his career, Dr. Groft was instrumental in the design of many of the Institute’s successful programs. He was part of a small group who established the Office of Orphan Products Development at the FDA in 1982 –a major accomplishment, particularly given that this was prior to the Orphan Drug Act. In 1993 he established the Office of Rare Disease Research at NIH and would later set up the Genetic and Rare Disease Information Center—a resource now available to the public—and aided in the development of ClinicalTrials.Gov—a site which houses over 160,000 studies and clinical trials for rare and common diseases.
During his last days in office, the Director of the National Institute of Health’s Rare Disease Department, Dr. Stephen Groft, is scrambling to tie up loose ends.
“This is really a hectic period,” he says as he prepares to chat about his last few days.
Here, in Bethesda, Maryland Dr. Groft has led his team with an intricate, forward-thinking strategy against the multiple challenges for the rare community. “I’ve been working in the government for almost 44 years. It’s been a long and an extremely interesting and challenging lifetime.”
Without a doubt, Dr. Groft has rooted himself so deeply in the office’s work that he seems eager to resolve his career by making sure every seed he’s planted is cared for, encouraged and inspired to grow.
But the success of the ORDR, he stresses, is not a one-person job.
“It’s the patient advocacy groups, the academic researchers, the FDA regulatory scientists, the biopharmaceutical companies, the expert clinicians, the NIH’s intramural and extramural research program staff and the patients themselves working in collaboration who provide the information needed to expand the knowledgebase on these rare diseases. We continue to receive new information not previously available for so many rare diseases and more importantly one major element.”
And what would that be?
“Scientific and Public Interest. We’ve shown that we can conduct more research, with rare diseases, recruit more patients as participants in smaller clinical studies, open the studies and then bring the studies to completion with appropriate analyses acceptable to FDA regulatory scientists –all because the community has come together.”
One of the biggest changes, Groft explains, has been the evolution of the patient advocacy group as a research partner.
“If we were going to have success, we needed their active participation—not just in planning the protocol, but in actually carrying it out as research partners.”
And with so many programs underway, they were going to need all the help they could get.
Earlier last year the NIH announced that they were planning to expand their hugely followed Undiagnosed Diseases Program. Patients and parents were flocking to send in applications for participation for themselves or their children, many of whom were suffering progressive and potentially fatal conditions.
“We worked with Dr. William Gahl of the National Human Genome Research Institute and Dr. John Gallin, the director of the Clinical Center hospital at the NIH in creating this program,” says Dr. Groft. “The program is now expanding and we’re looking ahead and considering the next step in response to many inquiries from the international rare diseases research community.”
A global effort is the goal for many of their projects. One project that remains unfinished as Groft exits his position is a pilot program called The Global Rare Diseases Patient Registry Data Repository (GRDR). The GRDR will provide a great deal of information for and about patients from the patient registries that are developed and controlled by patient organizations, researchers and the biopharmaceutical industry.
“This information will be extremely valuable in helping us to expand the information about the individual disease across the lifespan with multiple patients from different parts of the world over time. It’s an ongoing program, and I think one that we’re particularly excited to watch grow.”
Groft hopes to see efforts on the part of the international rare disease community to help expand the reach of the Registry.
“We’re not alone. That’s the good news. We have a lot of potential partners around the world who are open to participating in this and we’re fostering this initiative that we all know is very important.”
The program will work by collaborating with existing patient registries and will receive information from new registries for diseases with smaller populations. After receiving de-identified information from new and existing registries, the patient information will be stored and available for analyses by the patient and research community.
The NIH, on an annual basis, provides nearly $3.6 billion to support around 9,400 research projects including about $809 million supporting approximately 1650 research projects specifically dealing with orphan drugs.
“Many of the results of these studies provide the missing information for the next steps in research leading from discovery to potential products and diagnostics,” says Groft
Patient education and expansion of scientific information have always been a major emphasis of ORDR. Projects like their Scientific Conferences Program that the office has co-sponsored with the NIH research institutes and Centers have receive support for more than1300 individual scientific conferences since 1995. These multidisciplinary conferences and workshops help develop a research agenda on each disease, identify potential research opportunities, and direct the research community on where the most immediate needs exist to focus the next stages of research.
“I received a great deal of energy from the extensive and varied needs of the patients and their families as well as from my colleagues here at NIH. When working with the rare diseases, the numerous needs of the different groups and individuals can be staggering. Trying to meet these needs has been a bit daunting but has provided the stimulus to do more and more to try and make their lives a little bit better, to increase research and provide more information and increase the likelihood of obtaining the correct diagnosis and treatment from a clinician with expanding knowledge of the rare disease.”
Dr. Pamela McInnes assumed the position of Acting Director, ORDR as Groft takes his leave. She’s currently the Deputy Director, NCATS and will oversee ORDR and other NCATS programs in the coming year.
“I hope to maintain some degree of involvement going forward. I think we’re going to see incredible strides in the pace of our basic, clinical and translational research projects in the coming years.”
He remains optimistic for results from the NIH sponsored research programs and the relief the discoveries will bring to so many.
“We’re seeing some unbelievable research advances throughout the world. The future is even brighter with the continued development of traditional small molecules, an increase in enzyme replacement therapies, the monoclonal antibodies, promising gene therapy treatments, the results of regenerative medicine and stem-cell research. There is so much happening now, more than ever before as far as discovering new treatments and fulfilling the hopes of millions of people in the United States and around the world who currently have no treatments readily available to them.”