Registry and clinical study for Wolfram syndrome and related disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Preventing lower limb artery disease in adults with diabetes using a risk-prediction model and HAPA-based nursing

  A risk-prediction model is tested in adults with type 2 diabetes to see if a nursing plan based on the HAPA model can reduce peripheral artery disease in the legs.

  Recruiting Second Affiliated Hospital of Nanchang University · Nanchang, Jang XI · NCT07881588

• DiaFootCare: a mobile app to help adults with diabetic foot ulcers manage self-care in Oman

  A mobile app called DiaFootCare will be tested to see if it helps adults with diabetic foot ulcers in Oman take better care of themselves and improve healing compared with usual care.

  Recruiting Oman Ministry of Health · Muscat · NCT07815275

• Predictive CGM with App for people with type 1 or insulin-treated type 2 diabetes

  This study tests whether using the Accu-Chek SmartGuide CGM with its Predict App can reduce fear of hypoglycemia and improve related behaviors and confidence in adults with type 1 or insulin-treated type 2 diabetes.

  Recruiting Fidam Rdc · Bad Mergentheim, Baden-Wurttemberg · NCT07814508

• SugarVita 2.0: a 12-week digital game for adults with type 2 diabetes

  This 12-week pilot tests SugarVita 2.0, a serious digital game, to see if it helps adults with type 2 diabetes manage their condition and feel more confident.

  Recruiting Maxima Medical Center · Eindhoven, North Brabant · NCT07812623

• Linking social care with healthcare to help manage chronic diseases

  This trial tests whether pairing patients with trained community health workers can help them get transportation, healthy food, information, and better access to care to improve health in conditions like hypertension, diabetes, and high cholesterol.

  Recruiting at 2 sites University of Arizona · Tucson, Arizona and 1 other locations · NCT07799961

• Transcutaneous and topical photobiomodulation for diabetic foot ulcers

  This phase 2 trial tests whether combining transcutaneous and topical photobiomodulation helps heal foot ulcers in adults with diabetes.

  Recruiting Phase 2 University of Nove de Julho · Teresina, Piauí · NCT07798960

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.