Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undi
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 fut
| Condition(s) | Genetic Disease |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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 |
| Who can participate | * 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 s |
| Ages | 1 Month to 100 Years |
| Sex | All |
| Accepts healthy volunteers | Yes |
| Lead sponsor | National Human Genome Research Institute (NHGRI) |
| Locations | Birmingham, Alabama, United States; Huntsville, Alabama, United States; Los Angeles, California, United States; Orange, California, United States; Stanford, California, United States; Stanford, California, United States (+27 more sites) |
| Start date | 2015-09-16 |
| NCT ID | NCT02450851 |
| Official listing | https://clinicaltrials.gov/study/NCT02450851 |