This study is currently recruiting participants.
Number
15-HG-0130
Sponsoring Institute
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 mo Max Age: 100 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Rare Diseases; Undiagnosed Diseases; Natural History
Recruitment Keyword(s)
Condition(s)
Genetic Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Human Genome Research Institute
- 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.
Objectives:
- To improve diagnosis and care for people with undiagnosed diseases.
Eligibility:
- People with undiagnosed diseases, and their relatives.
Design:
-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
----Surveys
----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.
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INCLUSION CRITERIA: -Ideal applicants to the UDN include individuals with: --One or more objective findings pertinent to the phenotype for which a UDN application was submitted. --No diagnosis despite evaluation by at least two 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. -Applicants unable to consent can be enrolled. EXCLUSION CRITERIA: -Applicants who are unlikely to be accepted include individuals with: --Reported symptoms with no relevant objective findings. --A diagnosis explaining objective findings. --A diagnosis suggested on record review. --Unwillingness to share data.
-Ideal applicants to the UDN include individuals with:
--One or more objective findings pertinent to the phenotype for which a UDN application was submitted.
--No diagnosis despite evaluation by at least two 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.
-Applicants unable to consent can be enrolled.
EXCLUSION CRITERIA:
-Applicants who are unlikely to be accepted include individuals with:
--Reported symptoms with no relevant objective findings.
--A diagnosis explaining objective findings.
--A diagnosis suggested on record review.
--Unwillingness to share data.
Principal Investigator
Referral Contact
For more information:
Additional Linkshttps://undiagnosed.hms.harvard.edu