After two years, the NIH supported “Undiagnosed Diseases Program” (UDP) reports attaining success in patients whose cases have stumped specialists at leading medical institutions around the country. UDP researchers have reviewed, evaluated, and diagnosed 23 patients with rare diseases, where 15 cases reflected extremely rare diseases affecting fewer than 10,000 people. The researchers published the program’s first retrospective analysis in an online issue of “Genetics in Medicine”.
The UDP report focuses on 160 patients of the 326 cases accepted into the program. More than half of the accepted patients had undiagnosed neurological problems. Other prominent disorder categories include gastrointestinal disease, fibromyalgia and chronic fatigue syndrome, immune and rheumatic illnesses, psychiatric conditions, pain, dermatologic disorders, and cardiovascular disease.
The program has also delved into unknown maladies. In February 2011, the UDP announced in the “New England Journal of Medicine” that a new disease called ACDC or arterial calcification due to deficiency of CD73 was discovered. CD73 is a protein that produces a small molecule adenosine, which protects arteries from calcifying.
The siblings whose cases led to discovery of ACDC continue to experience pain while walking more than a short distance. NIH researchers have obtained approval to start a drug treatment protocol that could improve their condition which is due to be initiated within months.
UDP researchers had a patient with an unexplained muscle condition and diagnosed with a rare form of amyloidosis, a condition where the bone marrow produces excess immunoglobulin proteins that accumulate in the patient’s muscle tissue. The NIH team referred the patient for a stem-cell bone marrow transplant using healthy donor stem cells. The patient has subsequently experienced progressive improvement in her condition.
A typical UDP patient visits the NIH Clinical Center for one week. The case is evaluated by specialists from several of NIH’s institutes and centers with expertise in neurology, radiology, dentistry, and rheumatology. A key component of the program is genetics, so researchers collect DNA from blood or tissue samples from all participating patients, and often from family members to support the genomic analyses.
Up to 60 healthcare providers at NIH participate in UDP with up to 60 healthcare providers screening the applications. Patients are accepted based on the availability of clinical and research resources. The program currently has a backlog of applications and since July 2011 has suspended acceptance of new applications until November 2011.
For more information, go to http://rarediseases.info.nih.gov.
