RECRUITING

UW Undiagnosed Genetic Diseases Program

Conditions

Rare Diseases Genetic Disease Undiagnosed Disease genomics genome sequencing

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited.

Official Title

UW Undiagnosed Genetic Diseases Program

Quick Facts

Study Start:2021-07-16

Study Completion:2030-10

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT04586075

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified to 100 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
* The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing). * The applicant has at least one objective finding that is likely to have an identifiable genetic etiology. * The applicant likely has a currently undescribed/new genetic condition or a known genetic condition associated with a novel gene. * The applicant/legal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP) * The applicant/legal guardian agrees to receive secondary findings from genetic testing. * The applicant/legal guardian has sufficient proficiency in English to understand the consent.	* The applicant already has a diagnosis that explains the objective findings. * A specific diagnosis is suspected and a standard clinical workup performed by the referring/primary care provider would be appropriate. * The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received. * The applicant's symptoms are likely multifactorial or due to a non-genetic cause.

Inclusion Criteria

Exclusion Criteria

* The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing).
* The applicant has at least one objective finding that is likely to have an identifiable genetic etiology.
* The applicant likely has a currently undescribed/new genetic condition or a known genetic condition associated with a novel gene.
* The applicant/legal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP)
* The applicant/legal guardian agrees to receive secondary findings from genetic testing.
* The applicant/legal guardian has sufficient proficiency in English to understand the consent.

* The applicant already has a diagnosis that explains the objective findings.
* A specific diagnosis is suspected and a standard clinical workup performed by the referring/primary care provider would be appropriate.
* The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received.
* The applicant's symptoms are likely multifactorial or due to a non-genetic cause.

Contacts and Locations

Study Contact

Jadin Heilmann

CONTACT

(608) 263-5877

research@CHGPM.wisc.edu

Principal Investigator

Bryn Webb, MD

PRINCIPAL_INVESTIGATOR

University of Wisconsin, Madison

Study Locations (Sites)

University of Wisconsin School of Medicine and Public Health

Madison, Wisconsin, 53705

United States

Collaborators and Investigators

Sponsor: University of Wisconsin, Madison

Bryn Webb, MD, PRINCIPAL_INVESTIGATOR, University of Wisconsin, Madison

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-07-16

Study Completion Date2030-10

Study Record Updates

Study Start Date2021-07-16

Study Completion Date2030-10

Terms related to this study

Keywords Provided by Researchers

genomics
genome sequencing
undiagnosed disease

Additional Relevant MeSH Terms

Rare Diseases
Genetic Disease
Undiagnosed Disease