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

Eligibility

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.

Conditions7

Locations1 site

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