Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
S
Stephanie Ware, MD
Primary Investigator
Enrolling By Invitation
1 months - 100 years
All
Phase
N/A
160 participants needed
1 Location
Brief description of study
What is the purpose of this study?
This research study called the Undiagnosed Diseases Network (UDN). UDN is a group of medical and research centers across the United States. 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. The goal of this study is to improve diagnosis and care for people with undiagnosed conditions.
This research study called the Undiagnosed Diseases Network (UDN). UDN is a group of medical and research centers across the United States. 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. The goal of this study is to improve diagnosis and care for people with undiagnosed conditions.
The specific aims of the UDN are to:
1) Improve the level of diagnosis and care for patients with undiagnosed diseases through the
development of common and site-specific protocols designed by an enlarged community of
investigators;
2) Facilitate research into the etiology of undiagnosed diseases, by collecting and sharing
standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and
documentation of environmental exposures; and
3) Create an integrated and collaborative research community across multiple clinical sites and
between laboratory and clinical investigators prepared to investigate the pathophysiology of
these new and rare diseases, the impact of the diagnostic process on patients and families, and
share this understanding to identify improved options for optimal patient management.
1) Improve the level of diagnosis and care for patients with undiagnosed diseases through the
development of common and site-specific protocols designed by an enlarged community of
investigators;
2) Facilitate research into the etiology of undiagnosed diseases, by collecting and sharing
standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and
documentation of environmental exposures; and
3) Create an integrated and collaborative research community across multiple clinical sites and
between laboratory and clinical investigators prepared to investigate the pathophysiology of
these new and rare diseases, the impact of the diagnostic process on patients and families, and
share this understanding to identify improved options for optimal patient management.
THIS STUDY IS ENROLLING BY INVITATION ONLY - Each Clinical Site part of the Undiagnosed Diseases Network (UDN) will recruit, enroll, and evaluate at least 5 participants in the first year of the study. As such, IU's investigators will recruit, enroll, and evaluate participants based on the UDN research protocol.
Detailed description of study
What will happen during the study?
- Study participation involves an in-person or telehealth visit with the UDN medical center at Indiana University. In person visits can vary in length and will be discussed with you during the planning process. You may also have visits conducted by telehealth.
- We will have you see specialists and do tests and procedures to try to find a diagnosis for you. Genetic tests look at your genetic information for changes that may explain your condition.
- We will have you see specialists and do tests and procedures to try to find a diagnosis for you. Genetic tests look at your genetic information for changes that may explain your condition.
- Research on your information and specimens that happens after your visit may provide important information for your health. We will contact you if this happens.
- We will share your information and specimens with clinicians and researchers in the UDN.
- We will share your information and specimens with clinicians and researchers in the UDN.
During the visit we may:
• Ask you questions about your health and the health of your family members.
• Do a physical exam.
• Collect specimens, like blood, urine and/or spinal fluid, for clinical and genetic testing and other medical studies as clinically indicated.
• Do muscle, nerve, gastrointestinal or other tissue biopsies as clinically indicated.
• Do imaging studies, such as X-rays, MRI (magnetic resonance imaging), or CT (computerized tomography) scans, ultrasounds, elastography as clinically indicated.
• Take photographs or videos of you.
• Recommend other clinical tests and procedures during the visit to help find a diagnosis.
We will explain all the clinical tests and procedures to you and ask your permission before they are done.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: All, Riley
-
Age: 1 months - 100 years
-
Gender: All
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 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.
Updated on
09 Jan 2025.
Study ID: MMGE-NIH-15HG0130, 20763
Please visit our main page to search for other studies you may be interested in.
If you need help finding a study or have any questions, please contact us at inhealth@iu.edu
