Undiagnosed Diseases Network – Pacific Northwest
Condition or Therapy:
Undiagnosed diseases, genetic disease
What is the goal of this study?
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. The National Institutes of Health helped create a network of medical research centers, called the Undiagnosed Diseases Network (UDN), to provide care and answers for these individuals. The UDN-Pacific Northwest site, at the University of Washington and Seattle Children’s Hospital, seeks to provide a diagnosis and care for people with undiagnosed diseases.
Who can join the study?
This study might be a good fit for children with undiagnosed diseases who:
• Are at least 2 months of age and undiagnosed despite evaluation
• Have already undergone extensive testing
• Have a referral letter from a medical provider
This is an international study. Families do not have to live in Seattle to apply.
What will happen if my child takes part in this study?
Individuals with undiagnosed medical conditions (or their parent/guardian) may apply to the Undiagnosed Diseases Network study through the online application portal.
A recommendation letter by a licensed medical provider is required to accompany the application. Applicant families must be willing to assist with medical record collection and submission to the study team prior to application review. Not all applicants are accepted to participate in the study.
Participants accepted to the study will travel to Seattle Children’s Hospital for a clinical and research visit which may last several days. All travel costs as well as the clinical and research visit will be paid for by the study. 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
• Other tests and procedures to help reach a diagnosis
Most participants will be asked to give samples for genetic testing. Relatives of participants also 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.
You can read more about this study on clinicaltrials.gov.
Who can I contact for more information?
For more information, please call 206-616-2774 or email the study team.