5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Lance H Rodan, Wanshu Qi, Gregory S Ducker...
https://pubmed.ncbi.nlm.nih.gov/30031689Actively Recruiting
Age: 1Month - 100Years
All Genders
Healthy Volunteers
ID02450851
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-06
20000
Participants Needed
33
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating rare and undiagnosed disorders through the Undiagnosed Diseases Network (UDN), which builds on the NIH Undiagnosed Diseases Program (UDP). Many patients with severe and unexplained symptoms undergo numerous tests without a diagnosis, leaving families uncertain about their health futures. The UDN aims to provide answers, advance understanding of disease mechanisms, apply genomic technologies, and identify potential treatment targets for these complex cases. Participants with undiagnosed disorders undergo thorough clinical evaluations across multiple research centers. The process includes detailed phenotyping, genetic testing, functional studies, and medically necessary procedures such as skin biopsies and blood draws. The UDN facilitates sharing of identifiable phenotypic and genetic information among network sites to enhance collaboration and improve diagnosis and care. During the study, participants receive comprehensive assessments including clinical exams and laboratory tests to collect high-quality data on their condition. Researchers measure outcomes related to the development of a collaborative research community, investigation of disease causes, and improvements in diagnosis and care protocols. Participants may also provide samples for DNA analysis and agree to data sharing to support ongoing research. The study accommodates individuals unable to consent through appropriate enrollment procedures and includes follow-up evaluations as needed.
CONDITIONS
Brief Title
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who Can Participate
Age: 1Month - 100Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Individuals with one or more objective health findings related to their condition
- No diagnosis despite evaluation by specialists for these findings
- Agreement to allow storage and sharing of personal health information and samples within the network
- Participants unable to consent may be enrolled with appropriate procedures
You will not qualify if you...
- Individuals with symptoms but no relevant objective findings
- Individuals with a diagnosis that explains their health findings
- Individuals with a diagnosis suggested by record review
- Unwillingness to share data and samples
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 screening and enrollment visit (in-person)
Diagnostic Evaluation
Duration - Approximately 1 week
Participants undergo extensive phenotyping, genetic analyses, and medically indicated studies to help reach a diagnosis.
Multiple visits over 5 days (in-person)
Long-term Monitoring
Duration - Up to several years
Participants’ personal health information and samples are shared within the network to facilitate ongoing research and improve understanding of rare conditions.
Follow-up visits as needed
Trial Site Locations
Total: 33 locations
1
University of Alabama at Birmingham
Birmingham, Alabama, United States, 35233
Actively Recruiting
2
HudsonAlpha Institute for Biotechnology, Inc.
Huntsville, Alabama, United States, 35806
Completed
3
University of California, Los Angeles
Los Angeles, California, United States, 90095
Actively Recruiting
4
University of California, Irvine Medical Center
Orange, California, United States, 92668
Actively Recruiting
5
Lucile Salter Packard Children's Hospital at Stanford
Stanford, California, United States, 94020
Completed
6
Stanford University
Stanford, California, United States, 94305-5584
Actively Recruiting
7
Leland Stanford Junior University
Stanford, California, United States, 94305
Actively Recruiting
8
Stanford Hospital and Clinics
Stanford, California, United States, 94305
Actively Recruiting
9
Childrens National Medical Center
Washington D.C., District of Columbia, United States, 20010
Actively Recruiting
10
University of Miami Miller School of Medicine
Miami, Florida, United States, 33136
Actively Recruiting
11
Lurie Children s Hospital
Chicago, Illinois, United States, 60611
Not Yet Recruiting
12
Indiana University
Indianapolis, Indiana, United States, 46202-5262
Actively Recruiting
13
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
14
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
15
Boston Children s Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
16
Brigham and Women's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
17
Harvard T.H. Chan School of Public Health
Boston, Massachusetts, United States, 02115
Completed
18
Harvard U Faculty of Medicine
Boston, Massachusetts, United States, 02115
Not Yet Recruiting
19
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
20
Washington University in St. Louis
St Louis, Missouri, United States, 63110
Actively Recruiting
21
New York Genome Center
New York, New York, United States, 10013
Active, Not Recruiting
22
Duke University Health System
Durham, North Carolina, United States, 27710
Actively Recruiting
23
University of Oregon
Eugene, Oregon, United States, 97403
Not Yet Recruiting
24
Oregon Health Sciences University
Portland, Oregon, United States, 97201-3098
Completed
25
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104-6056
Actively Recruiting
26
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
27
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232
Actively Recruiting
28
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
29
University of Utah
Salt Lake City, Utah, United States, 84112
Actively Recruiting
30
Pacific Northwest National Laboratory
Richland, Washington, United States, 99354
Completed
31
Seattle Children's Hospital
Seattle, Washington, United States, 98101
Actively Recruiting
32
University of Washington
Seattle, Washington, United States, 98195
Actively Recruiting
33
Medical College of Wisconsin
Milwaukee, Wisconsin, United States, 53226
Actively Recruiting
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Research Team
P
Paul Mazur
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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