Registry and clinical study for Wolfram syndrome and related disorders
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
This study is trying to gather information from people with Wolfram syndrome to better understand the condition and its effects, while also looking for specific gene mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 0 Years and up |
| Sex | All |
| Sponsor | Washington University School of Medicine Academic / other |
| Locations | 1 site (St Louis, Missouri) |
| Trial ID | NCT02841553 on ClinicalTrials.gov |
What this trial studies
This observational study aims to establish and maintain an international registry of patients diagnosed with Wolfram syndrome, focusing on collecting clinical information to better understand the natural history and metabolic phenotypes associated with the condition. Participants will provide blood samples for genetic analysis to identify mutations in the WFS1 gene, which is linked to the syndrome. The study will analyze data on the onset and progression of symptoms such as diabetes mellitus, optic nerve atrophy, and other related complications. The findings may offer insights into the complexities of diabetes and related disorders.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with Wolfram syndrome, including minors, who have access to the Internet.
Not a fit: Patients without a diagnosis of Wolfram syndrome or those who do not meet the eligibility criteria will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Wolfram syndrome and improve management strategies for patients with diabetes and related conditions.
How similar studies have performed: While the approach of establishing a registry for rare genetic disorders is not novel, the specific focus on Wolfram syndrome and its genetic underpinnings is relatively unique and may provide new insights.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
St Louis, Missouri
- Washington University School of Medicine — St Louis, Missouri, United States (Recruiting)
Study contacts
- Study coordinator: Fumihiko Urano, MD
- Email: wolframsyndrome@wustl.edu
- Phone: (314) 477-1527
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.