Wolfram Syndrome International Registry and Clinical Study
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02841553|
Recruitment Status : Recruiting
First Posted : July 22, 2016
Last Update Posted : February 6, 2019
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.
|Condition or disease|
|Wolfram Syndrome Diabetes Mellitus Optic Nerve Atrophy Deafness Diabetes Insipidus Ataxia|
Show Detailed Description
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||200 participants|
|Target Follow-Up Duration:||20 Years|
|Official Title:||Wolfram Syndrome International Registry and Clinical Study|
|Study Start Date :||July 2011|
|Estimated Primary Completion Date :||December 2025|
|Estimated Study Completion Date :||December 2025|
- Changes in C-peptide levels in participants [ Time Frame: 10 years ]The investigators will monitor base-line C-peptide levels in participants' blood.
- Changes in best-corrected visual acuity in participants measured by Snellen optotype [ Time Frame: 10 years ]Best-corrected visual acuity will be measured by Snellen optotype. Higher logMar scores indicate worse vision
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02841553
|Contact: Fumihiko Urano, MDemail@example.com|
|United States, Missouri|
|Washington University School of Medicine||Recruiting|
|Saint Louis, Missouri, United States, 63110|
|Contact: Fumihiko Urano, MD 314-362-8683 firstname.lastname@example.org|
|Contact: Cris Brown, BS +1-314-362-8684|
|Principal Investigator: Fumihiko Urano, MD|