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

NCT02841553 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 5000

Last updated 2025-12-23

No results posted yet for this study

Summary

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.

Conditions

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

Sponsors & Collaborators

  • American Diabetes Association

    collaborator OTHER

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

    collaborator NIH

  • Washington University School of Medicine

    lead OTHER

Eligibility

Min Age
0 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-07-31
Primary Completion
2027-04-30
Completion
2027-04-30

Countries

  • United States

Study Locations

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Diseases
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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02841553 on ClinicalTrials.gov