Wolfram Syndrome: Diagnosis, Management, and Treatment.
Fumihiko Urano
https://pubmed.ncbi.nlm.nih.gov/26742931Actively Recruiting
Age: 0Years +
All Genders
ID02841553
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
Led by Washington University School of Medicine · Updated on 2025-12-23
5000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
W
Washington University School of Medicine
Lead Sponsor
A
American Diabetes Association
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying Wolfram syndrome, a rare genetic disorder that causes juvenile diabetes, optic nerve damage, and progressive neurological problems. The study aims to understand this disease better by creating and maintaining an international registry of patients. This registry collects detailed clinical information to define the natural history of Wolfram syndrome and investigates its genetic causes and related metabolic traits. The research may also provide insights into more common forms of diabetes and neurodegeneration. The study uses an internet-based registry to enroll patients diagnosed with Wolfram syndrome based on specific clinical and genetic criteria. Participants may provide blood and urine samples up to three times a year for genetic testing and biomarker analysis. They will also complete an electronic questionnaire to assess their activity levels and quality of life. Optionally, some participants may have cells collected to create stem cells for future research. The registry supports collaboration among international researchers and may connect participants to other Wolfram syndrome-related clinical trials. Participants contribute data through online questionnaires and provide biological samples for testing. The study monitors various biomarkers, including C-peptide levels, to track disease progression over time. Researchers also assess vision changes using standard eye tests. The study aims to gather comprehensive data over many years to improve understanding and guide future treatments. Participation involves regular follow-up and contributes to a global effort to advance knowledge of Wolfram syndrome and related disorders.
CONDITIONS
Brief Title
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
Who Can Participate
Age: 0Years +
All Genders
Eligibility Criteria
You may qualify if you...
- Diagnosis of Wolfram syndrome based on clinical or genetic criteria
- Diabetes mellitus diagnosed before age 16 or optic nerve atrophy before age 16 (major criteria)
- Or diabetes insipidus, diabetes mellitus after age 16, optic nerve atrophy after age 16, sensorineural deafness, neurological signs, renal tract abnormalities, mutation in WFS1/CISD2 gene, or family history (minor criteria)
- Must meet at least 2 major criteria, or 1 major plus 2 minor criteria, or have 2 pathological WFS1 or CISD2 mutations
- Any age and gender with access to the Internet
- Parents and unaffected siblings may participate as controls
You will not qualify if you...
- Inability of patient or guardian to understand the questionnaire due to language barriers
- Unaffected parents, siblings, or spouses who cannot understand the informed consent document
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote)
Registry Enrollment and Data Collection
Duration - Up to 10 years
Participants enroll in an Internet-based registry where clinical information, including diagnosis and disease progression, is collected. Blood and urine samples are collected up to three times a year to monitor biomarkers and genetic analysis. Electronic questionnaires assessing activity and quality of life are administered once.
Up to 3 sample collection visits per year and 1 electronic questionnaire
Trial Site Locations
Total: 1 location
1
Washington University School of Medicine
St Louis, Missouri, United States, 63110
Actively Recruiting
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Research Team
F
Fumihiko Urano, MD
A
Ashley Raterman, RN
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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