NCT03951298Completed
I-Tracking Neurodegeneration in Early Wolfram Syndrome
International Tracking Neurodegeneration in Early Wolfram Syndrome
Source: ClinicalTrials.gov · Last updated 23 Sept 2026
Brief summary (registry, in English)
Wolfram syndrome (WFS; OMIM #222300) is a rare autosomal recessive disease clinically defined in 1938 as the combination of childhood-onset insulin dependent diabetes, optic nerve atrophy, diabetes insipidus and deafness. Based on early descriptions, neurological features were thought to appear later in the disease with death occurring in middle adulthood. Importantly, the major causative gene (WFS1) was identified in 1998. This discovery allowed researchers to determine that the WFS1 gene encodes the protein wolframin, which helps protect cells from endoplasmic reticulum (ER) stress-mediated apoptosis, potentially via intracellular calcium homeostasis. Pathogenic mutations in WFS1 can result in death or dysfunction of cells that are under high ER stress, such as insulin-producing pancreatic β cells, causing insulin dependent diabetes. In addition, knowing the causative gene has allowed researchers to identify patients by their WFS1 mutation rather than the classic set of symptoms, leading to the increasing realization that the WFS1-related phenotype (including neurologic symptoms) is much more variable than previously understood. The first iteration of this grant (HD070855 "Tracking Neurodegeneration in Early Wolfram Syndrome") contributed to this shift in understanding. In this time, the research team has built a successful annual research clinic for WFS, that has met or exceeded recruitment goals for patients and controls, validated a clinical severity rating scale for WFS, described an unexpectedly early neurophenotype of reduced balance, smell identification and ventral pons volume, identified alterations in traditional diffusion tensor imaging (DTI) metrics that suggest hypomyelination as a pervasive neuropathological feature of WFS and provided justification for the selection of two primary outcomes (visual acuity and ventral pons volume) in a newly funded clinical efficacy study in WFS (Barrett, PI).
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 128 (actual)
- First submitted
- 13 May 2019
- Start date
- 10 Aug 2018
- Primary completion date
- 31 Dec 2023
- Lead sponsor
- Washington University School of Medicine
- Diseases
- Type 1 diabetes
- NCT number
- NCT03951298
What you commit to
- Study type: Observational
- Participants enrolled: 128
- From 10 Aug 2018 to the primary completion date, 31 Dec 2023
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Advanced disease that makes traveling too problematic and/or uncomfortable for the patient and/or guardian, such as the use of a ventilator or inability to walk.
- Sibling Group: Biological, half and step-siblings who do not have any symptoms of WFS and/or have had genetic testing to show that they do not have WFS may participate.
Other
- Patient is unaware of their diagnosis.
- Inability of patient or guardian to understand informed consent.
- Inability of participant or guardian to understand informed consent.
- Proxy Group: Adult Biological parent(s), biological caregiver, or non-biological caregiver of adult and minor participants in any of the four groups.
- Proxy is unaware of the participant's diagnosis (as it applies).
Who the study is looking for
- Patient has confirmation of a WFS1 mutation OR
- Both of the following conditions:
- diabetes mellitus requiring insulin and
- optic nerve atrophy diagnosed by a physician.
- Biological or non-biological parent/caregiver (proxy) of a participant.
Criteria the registry did not label
- Wolfram Syndrome Group (WFS):
Age in the registry: 1 day to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Washington University School of Medicine Coordinator of this site? Confirm its status | St Louis | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.