Trial ID or NCT#

NCT02450851

Status

recruiting iconRECRUITING

Purpose

Background: - 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. - Surveys - 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.

Official Title

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

Eligibility Criteria

Ages Eligible for Study: Younger than 100 Years
Sexes Eligible for Study: All
Accepts Healthy Volunteers: Yes

Investigator(s)

Euan A. Ashley
Euan A. Ashley
Cardiologist, Heart failure cardiologist
Associate Dean, School of Medicine, Roger W. and Joelle G. Burnell Professor of Genomics and Precision Health, Professor of Medicine (Cardiovascular Medicine), of Genetics, of Biomedical Data Science and, by courtesy, of Pathology
Matthew Wheeler
Matthew Wheeler
Cardiologist, Heart failure cardiologist
Assistant Professor of Medicine (Cardiovascular Medicine)

Contact us to find out if this trial is right for you.

CONTACT

CUD Coordinators
(650) 736-2517