NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

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

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Rare Diseases;
Undiagnosed Disease

Recruitment Keyword(s)

None

Condition(s)

Genetic Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

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.

--Back to Top--

Eligibility

INCLUSION CRITERIA:

-The applicant has a condition that remains undiagnosed despite thorough evaluation by a healthcare provider and has at least one objective finding.

-The applicant (or legal guardian) agrees to 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:

-The applicant has a diagnosis that explains the objective findings.

-Review of the records suggests a diagnosis and further evaluation by the UDN is deemed unnecessary.

-The UDN is unlikely to improve on the comprehensive workup the applicant already received

-The applicant is too seriously ill to travel safely to the UDN site and telemedicine/distance consult is not possible or appropriate.


--Back to Top--

Citations:

Not Provided

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

William A. Gahl, M.D.
National Human Genome Research Institute (NHGRI)



Paul Mazur
National Human Genome Research Institute (NHGRI)
10 Shattuck St.
Boston, MA 02115
(844) 746-4836
udn@hms.harvard.edu

Paul Mazur
10 Shattuck St.
Boston, MA 02115
(844) 746-4836
udn@hms.harvard.edu

Clinical Trials Number:

NCT02450851

Additional Linkshttps://undiagnosed.hms.harvard.edu

--Back to Top--