Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study

Part of paid clinical trials in St Louis, Missouri.

Sponsor
Washington University School of Medicine
Study ID
NCT02841553
Status
Recruiting
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Conditions

  • Ataxia
  • Deafness
  • Diabetes Insipidus
  • Diabetes Mellitus
  • Optic Nerve Atrophy
  • Wolfram Syndrome

Eligibility Criteria

Sex
ALL
Age
0 Years - N/A
Healthy Volunteers
Not accepted

Study Details

In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type 2 diabetes mellitus. Aim 1. Establish and maintain a registry of patients with Wolfram syndrome. An Internet based registry will be employed to enroll participants with the clinical diagnosis of Wolfram syndrome (insulin dependent DM and bilateral OA). Clinical information regarding age of diagnosis and progression of the disease will be collated and analyzed to better define its natural history, along with potential metabolic phenotypes such as glucose intolerance of heterozygous parents and unaffected sibs. If not already completed, blood for WFS1 sequence analysis will be obtained on the participants (parents and sibs also for control purposes) and sent to a CLIA certified lab to define the mutation. This information will benefit patient families and referring physicians by providing a genetic diagnosis and where indicated. The Wolfram Syndrome Registry will foster international collaborations to more efficiently and systematically collect Wolfram syndrome patients and their clinical and experimental data.

Key Dates

Start date
Jul 31, 2011
Status verified
Dec 2025
Primary completion
Apr 30, 2027
Completion
Apr 30, 2027

Study Design

Enrollment
5,000 participants (estimated)

Primary Outcome Measure

Changes in C-peptide levels in participants [ Time Frame: 10 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Washington University School of MedicineSt LouisMissouri63110
Fumihiko Urano, MD
[email protected]
(314) 477-1527
Ashley Raterman, RN
[email protected]
(314) 477-1527
Fumihiko Urano, MD (PRINCIPAL_INVESTIGATOR)

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