Trial Search Results
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
- Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. The NIH helped create a network of medical research centers, called the Undiagnosed Diseases Network (UDN), to provide care and answers for these individuals.
- To improve diagnosis and care for people with undiagnosed diseases.
- People with undiagnosed diseases, and their relatives.
- Participants will travel to one of the UDN medical centers for a 5-day clinical and research visit.
- As part of the visit, UDN healthcare providers may ask participants to have:
- Clinically indicated tests and procedures performed including:
- A physical exam
- Blood and urine tests
- A review of health and family history
- X-rays and body scans
- Photographs of the face and body
- A special diet to see if the body can handle the food without having a reaction, like vomiting
- Video or voice recordings
- Other tests and procedures to help reach a diagnosis
- Research tests and procedures performed including:
- A skin biopsy. For this, a small piece of skin will be taken.
- Other tests and procedures for research that may not be related to a diagnosis or treatment.
- Most participants will be asked to give samples for genetic testing.
- Participants may be contacted after their visit to discuss test results. They may also be contacted in the future for interviews and surveys.
- Relatives of participants may be asked to give samples for genetic testing. They may be asked to have parts of their visit recorded and to have additional tests. They may also be contacted in the future for interviews and surveys.
- Clinical and research information collected will be stored in a database.
- Information and samples collected will be shared with others for research purposes.
Stanford is currently accepting patients for this trial.
National Human Genome Research Institute (NHGRI)
- INCLUSION CRITERIA:
- The applicant has a condition that remains undiagnosed despite thorough evaluation by
a healthcare provider and has at least one objective finding.
- The applicant (or legal guardian) agrees to 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.
- Applicants unable to consent can be enrolled
- For the metabolomics analysis site-specific research project, the individual must be a
patient in the inherited metabolic disease clinic at Boston Children s Hospital or the
Oregon Health & Science University and have a confirmed diagnosis of an inherited
metabolic disorder based on DNA, enzyme analysis, or other standard practice.
- The applicant has a diagnosis that explains the objective findings.
- Review of the records suggests a diagnosis and further evaluation by the UDN is deemed
- The UDN is unlikely to improve on the comprehensive workup the applicant already
- The applicant is too seriously ill to travel safely to the UDN site and
telemedicine/distance consult is not possible or appropriate.
- For the metabolomics analysis site-specific research project, individuals who are
pregnant, have intercurrent illness, or are using drugs and/or supplements deemed
likely to alter the usual metabolic state will be excluded. Individuals unable to
provide informed consent or assent will also be excluded
Ages Eligible for Study
1 Year - 100 Years
Genders Eligible for Study