RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2011-07
Study Completion:2026-04
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02841553

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:0 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Diabetes mellitus \<16 yrs
  2. * Optic atrophy \<16 yrs
  3. * Diabetes insipidus
  4. * Diabetes mellitus \>16yrs
  5. * Optic atrophy \>16 yrs
  6. * Sensorineural deafness
  7. * Neurological signs (ataxia, epilepsy, cognitive impairment)
  8. * Renal tract abnormalities (structural or functional)
  9. * 1 loss of function mutation in WFS1/CISD2 AND/OR family history of Wolfram syndrome
  10. * 2 major OR
  11. * 1 major plus 2 minor criteria OR
  12. * 2 pathological WFS1 or CISD2 mutations are identified
  13. * Hypogonadism (males)
  14. * An absence of type 1 diabetes auto-antibodies
  15. * Bilateral cataracts
  16. * Psychiatric disorder
  17. * Gastrointestinal
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Fumihiko Urano, MD
CONTACT
+1-314-362-8683
urano@wustl.edu

Study Locations (Sites)

Washington University School of Medicine
Saint Louis, Missouri, 63110
United States

Collaborators and Investigators

Sponsor: Washington University School of Medicine

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2011-07
Study Completion Date2026-04

Study Record Updates

Study Start Date2011-07
Study Completion Date2026-04

Terms related to this study

Keywords Provided by Researchers

  • Endoplasmic Reticulum Stress

Additional Relevant MeSH Terms

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