Official Title
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Brief Title
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Protocol ID
NCT02450851
Lead Sponsor
National Human Genome Research Institute (NHGRI)
Brief Summary
Without an explanation for severe and sometimes life-threatening symptoms, patients and
their families are left in a state of unknown. Many individuals find themselves being
passed from physician to physician, undergoing countless and often repetitive tests in
the hopes of finding answers and insight about what the future may hold. This long and
arduous journey to find a diagnosis does not end for many patients- the Office of Rare
Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an
undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed
Diseases Program (UDP) was established with the goal of providing care and answers for
these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP
is a joint venture of the NIH ORDR, the National Human Genome Research Institute
Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC)
(1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed
diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application
of new approaches to phenotyping and the use of genomic technologies; and (4) identify
potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical
records and admitted 750 individuals with rare and undiagnosed conditions to the NIH
Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and
several new conditions. The success of the NIH UDP prompted the NIH Common Fund to
support the establishment of a network of medical research centers, the Undiagnosed
Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform
extensive phenotyping, genetic analyses, and functional studies of potential
disease-causing variants. The testing performed on patients involves medically indicated
studies intended to help reach a diagnosis, as well as research investigations that
include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further
the goals of the UDP by permitting the sharing of personally identifiable phenotypic and
genotypic information within the network. By sharing participant information and
encouraging collaboration, the UDN hopes to improve the understanding of rare conditions
and advance the diagnostic process and care for individuals with undiagnosed diseases.
Detailed Description
Without an explanation for severe and sometimes life-threatening symptoms, patients and
their families are left in a state of unknown. Many individuals find themselves being
passed from physician to physician, undergoing countless and often repetitive tests in
the hopes of finding answers and insight about what the future may hold. This long and
arduous journey to find a diagnosis does not end for many patients- the Office of Rare
Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an
undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed
Diseases Program (UDP) was established with the goal of providing care and answers for
these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP
is a joint venture of the NIH ORDR, the National Human Genome Research Institute
Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC)
(1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed
diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application
of new approaches to phenotyping and the use of genomic technologies; and (4) identify
potential therapeutic targets, if possible.1-3 Prior to formation of the Undiagnosed
Diseases Network (UDN), the UDP had evaluated 3300 medical records, admitted 750
individuals with rare and undiagnosed conditions to the NIH, and identified more than 70
rare disease diagnoses and several new conditions. The success of the NIH UDP prompted
the NIH Common Fund to support the establishment of a network of medical research
centers, the UDN, for fiscal years 2013-2022. The clinical sites perform extensive
phenotyping, genetic analyses, and functional studies of potential disease-causing
variants. The testing performed on patients involves medically indicated studies intended
to help reach a diagnosis, as well as research investigations that include a skin biopsy,
blood draws, and DNA analysis. In addition, the UDN is furthering the goals of the UDP by
permitting the sharing of personally identifiable phenotypic and genotypic information
within the network. By sharing participant information and encouraging collaboration, the
UDN hopes to improve the understanding of rare conditions and advance the diagnostic
process and care for individuals with undiagnosed diseases.
Study Period
-
Enrollment Count
20,000 participants
Eligibility Criteria
- INCLUSION CRITERIA:
Ideal participants for tier 2-4 evaluations include individuals with:
- One or more objective findings pertinent to the phenotype for which a case was
submitted.
- No diagnosis despite evaluation by specialists who assessed the patient for the
objective finding(s).
- Agreement for the storage and sharing of information and biomaterials, in an
identified fashion amongst the UDN centers, and in a de-identified fashion to
research sites beyond the network.
Participants unable to consent can be enrolled.
EXCLUSION CRITERIA:
Individuals who are unlikely to be assigned to tier 2-4 evaluations include those with:
- Reported symptoms with no relevant objective findings.
- A diagnosis explaining objective findings.
- A diagnosis suggested on record review.
- Unwillingness to share data.
Filters
Genetic Disease
RECRUITING
CHILD
ADULT
OLDER_ADULT