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

Launched by WASHINGTON UNIVERSITY SCHOOL OF MEDICINE · Jul 21, 2016

Keywords

ClinConnect Summary

The Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study is looking to better understand Wolfram syndrome, a rare condition that can cause diabetes, vision problems, hearing loss, and other health issues. Researchers believe that by studying the genetic changes in people with this syndrome, they can learn more about diabetes in general. The study involves creating a registry where patients diagnosed with Wolfram syndrome can share their medical information, which will help scientists track how the disease progresses over time.

Anyone diagnosed with Wolfram syndrome can join the study, including children and adults, as long as they have internet access. To qualify, participants typically need to have diabetes or vision problems that started before they turned 16, or they may meet other specific health criteria. Participants will provide blood samples for genetic testing, which can help them and their families understand the genetic basis of their condition. Taking part in this study not only contributes to valuable research but also connects families facing similar challenges in managing this complex syndrome.

Gender

ALL

Eligibility criteria

• • Any patient worldwide with a diagnosis of Wolfram syndrome and with access to the Internet can be enrolled in the Registry. Since the disease usually manifests in the first decade of life and tends to have an inevitably progressive course, participation of minors is important for establishing the natural course of the disease.
• Inclusion Criteria:
• • Major Criteria
• • Diabetes mellitus \<16 yrs
• • Optic atrophy \<16 yrs
• • Minor Criteria
• • Diabetes insipidus
• • Diabetes mellitus \>16yrs
• • Optic atrophy \>16 yrs
• • Sensorineural deafness
• • Neurological signs (ataxia, epilepsy, cognitive impairment)
• • Renal tract abnormalities (structural or functional)
• • 1 loss of function mutation in WFS1/CISD2 AND/OR family history of Wolfram syndrome
• • Minimum Required
• • 2 major OR
• • 1 major plus 2 minor criteria OR
• • 2 pathological WFS1 or CISD2 mutations are identified
• • Other variable suggestive evidence
• • Hypogonadism (males)
• • An absence of type 1 diabetes auto-antibodies
• • Bilateral cataracts
• • Psychiatric disorder
• • Gastrointestinal
• Exclusion Criteria:
• • Inability of a patient and/or a guardian to obtain help with translation and thus, inability to understand questionnaire.
• Parent, Sibs, and Spouses:
• • - Parents, sibs, and spouses that are unaffected will be recruited as controls. Inclusion criterion is having the unaffected status and exclusion criterion is if the person cannot understand the Informed Consent Document.