1. NIH’s Undiagnosed Disease Program (UDP)
September 10, 2015
CAPT Michele Nehrebecky, MS, CRNP

2. Program Announcement May 2008
Began with 2 Nurse Practitioners (both PHS) and 1 scheduler
Initial funding was $280,000
Budget increased to $3.5 million per year
NIH consultants

3. UDP Goals
To provide answers to patients with mysterious conditions that have long eluded diagnosis
To discover new diseases that provide insight into human physiology and genetics

4. UDP applicants Inquiries >11,000 Medical Records >3000
Acceptances ~750
30% children
Seen by other services
Roughly half are neurological
Diagnosis ~25%

5. Types of Nurses in the UDP
Research Nurses
Nurse Practitioners

6. UDP Operations Applicants submit medical records
Referring physician sends summary letter
UDP Director triages submitted records
NIH senior consultants review records
UDP Director synthesizes recommendations & makes final disposition
Patients/referring physicians are informed by a standard letter
Accepted patients come to NIH CC for 1 week
A longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that are referred to this program, a very limited number will be invited to proceed in the study following careful application review by the program's medical team. In general, it takes 8 to 12 weeks for the UDP to evaluate an application, and the waiting list for admission is 2 to 6 months

7. Role of the NP Pre-admission
Participate in patient screening for admission to the program
Obtain detailed history
Develop admission schedule with team input
Pre-admission contact with family to identify family concerns and patient medical stability
Assist with special travel needs
Communicate and problem-solve issues with the team discovered as new records arrive and/or patient condition changes
Present and modify admission plan as necessary

8. Role of the NP During Admission Consent patients/families
Perform History and Physical exam
Daily exams and notes
Perform some procedures during admissions
Management of acute changes during admissions
Wrap-up
Education (Residents, NP students, GC students etc..)

9. Multidisciplinary evaluation
Neurology
Ophthalmology
Audiology
Genetics
Gastroenterology
Gynecology
Dermatology
Rheumatology
Infectious disease
Allergy/Immunology
Oncology
Hematology
Dentistry
Rehabilitation Medicine
Cardiology
Pain/Palliative Care
Speech/Language
Pulmonary Medicine

10. UDP in the Media Written press coverage Television and Radio
Newsweek article
NBC Nightly News
Scores of newspaper articles
Fox Television (NYC area); PBS
NY Times Magazine, People Magazine
CNN (Dr. Sanjay Gupta)
ABC Today Show
Discovery Health Channel
60 Minutes
Anderson Cooper 360

11. Publications At least 40 JAMA New England Journal of Medicine Science
Genetics in medicine
Nature Genetics

12. Undiagnosed Diseases Network
The Undiagnosed Diseases Network

13. Undiagnosed Diseases Network
The NIH and the NIH’s Common Fund announced that UDP has been expanded to become the Undiagnosed Diseases Network (UDN).
July 1, The NIH has awarded grants to six medical centers around the country to select from the most difficult-to-solve medical cases and together develop effective approaches to diagnose them.
On July 2, 2012, the NIH Common Fund announced that it will provide $145 million over seven years to expand the NIH Undiagnosed Diseases Program through a network of medical research centers around the country. The expanded program will continue the focus on the discovery and diagnosis of patients, while promoting the use of genomic data and engagement of basic researchers in identifying the underlying mechanisms of diseases. The program will also train clinicians in the use of contemporary genomic approaches.

14. The clinical sites will conduct scientific investigation in cases that involve patients with chronic, undiagnosed conditions.

15. UDN Objectives:
Improve the level of diagnosis & care for patients with undiagnosed diseases
Create an integrated & collaborative research community to identify improved options for optimal patient management
Conduct clinical evaluation & scientific investigation in cases that involve patients with prolonged undiagnosed conditions
Each clinical site will contribute local medical expertise
Facilitate research into the etiology of undiagnosed diseases

16. UDN
enroll 1,400 patients across all of the seven clinical sites over the next four years
$145 million over 7 years

17. Case Study

18. Muscle hypertrophy No drugs normal growth hormone EMG myopathic
normal initial muscle biopsy

19. 1982

20. Amyloid Myopathy
Thick vessel wall Congo Red Stain Protein Aggregation

21. Outcome Referred to Amyloid experts at Mayo Clinic
Stem Cell Transplant in 6/2009
Improvements within weeks
Expect a full recovery

22. http://rarediseases.info.nih.gov/undiagnosed (866) 444-8806
More Information
(866)
Gahl will be one of the speakers at the Opening Plenary Session on Tuesday, October 5, 9:00–11:30 a.m., October 5, 2010, Building 10, Masur Auditorium.

23. Michele Nehrebecky, MS, CRNP Captain, USPHS NHGRI
NIH’s Undiagnosed Diseases Program
office