Undiagnosed diseases program solves medical mysteries

In Uncategorized by Caroline Hornby

undiagnosed diseases and rare disease by siren interactive Siren Interactive kindly provided this guest blog post from their blog, SirenSong. It was written by Caryn Steinman.

After its first two years of work, the Undiagnosed Diseases Program (UDP)  of the National Institutes of Health (NIH) released a report highlighting its results: 37 cases received a diagnosis, and 2 new diseases were discovered.

The UDP has the daunting task of providing answers and diagnoses to patients with medical mysteries that have long gone unsolved. Clinical researchers at the UDP take advantage of the expertise of their NIH colleagues in numerous medical specialties to collaborate in finding answers for these desperate patients. And in addition to helping individuals, they also work to advance the field of medicine with knowledge about both rare and more common conditions.

Overwhelming interest
The UDP called for applications back in May 2008, received 1,191 cases over time, and accepted 326 patients into the program. Each application requires a summary letter from a referring healthcare provider and complete medical records. Unfortunately, due to the overwhelming number of applications, the program currently has a backlog and since July 2011 has suspended acceptance of new applications. These numbers indicate the serious need for this program and highlight the thousands of people who are struggling to obtain a diagnosis. Working in rare diseases, we often hear stories from patients about their struggle to find a diagnosis – frequently taking years. Here’s one example from a Siren colleague: The Journey to Diagnosis Is Often Bumpy.

The clinic of last resort
The UDP report focuses on 160 of the 326 patients accepted into the program. More than half of the accepted patients had undiagnosed neurological problems. Other categories included gastrointestinal disease, fibromyalgia and chronic fatigue syndrome, immune-mediated and rheumatic illnesses, psychiatric conditions, pain, dermatologic disorders, and cardiovascular disease.

“The limited rate of diagnosis during the program is sobering,” said William Gahl, MD, PhD, National Human Genome Research Institute clinical director and UDP director, in a press release. “While we wish we could arrive at a conclusive diagnosis for each patient, the reality is that many of their conditions are likely new diseases and we continue to pursue clues long after patients depart the hospital here at NIH.” To increase the success rate, the UDP plans to make case descriptions available to designated expert researchers, to both validate findings and enhance understanding of disorders.

Rare diseases diagnosed
Interestingly, of these patients evaluated at UDP, 23 patients were diagnosed with rare diseases, and of those 23, 15 cases involved extremely rare diseases affecting fewer than 10,000 people. As those of us who work in the rare disease space are aware, while these diseases may be identified, some lack diagnostic tests or medical definitions to describe them.

New diseases discovered
In February 2011, the program announced their first discovery of a new disease, called ACDC, or arterial calcification due to deficiency of CD73. A study on an additional new disorder is pending publication in a medical journal. Read more about the unique approach UDP takes to diagnose these medical mysteries.

For more information on orphan drugs and rare diseases, check out the World Orphan Drug Congress USA. Siren Interactive is a silver sponsor.