Ongoing Clinical Trials for Wolfram Syndrome
This article presents information about 3 ongoing clinical trials for Wolfram syndrome, a rare genetic disorder that affects multiple body systems. These studies are investigating different treatment approaches, including sodium valproate for hearing preservation and tirzepatide for improving insulin production, being conducted across several European countries.
Clinical trial locations
- Austria
- Belgium
- France
- Germany
- Italy
- Poland
- Spain
- Sweden
Study on the Effect of Raxtozinameran Vaccine in Reducing Type 1 Diabetes Risk in Children with High Genetic Susceptibility
This trial focuses on preventing type 1 diabetes in children who have a high genetic risk of developing the condition. Type 1 diabetes is a chronic condition where the body’s immune system attacks insulin-producing cells in the pancreas, and it is one of the features that can affect people with conditions related to genetic susceptibility.
Main inclusion criteria: The study is looking for children between 3 and 4 months old who have a high genetic risk (more than 10%) of developing islet autoantibodies by age 6. This risk is determined by specific genetic markers and having a close family member with type 1 diabetes. Parents or guardians must provide written informed consent for their child to participate.
Main exclusion criteria: The trial documentation indicates standard safety exclusions typical for vaccine studies in infants, though specific details were limited in the source data.
Study focus: The trial aims to determine whether vaccinating young children against COVID-19 from the age of 6 months can reduce the chances of developing islet autoantibodies or type 1 diabetes itself during childhood. The study measures the time it takes for these conditions to develop after children are randomly assigned to receive either the vaccine or a placebo.
Investigational treatment: The study uses the Comirnaty Omicron XBB.1.5 COVID-19 mRNA Vaccine at a dose of 3 micrograms per injection. Some participants will receive a 0.9% sodium chloride solution as a placebo for comparison. The study will continue until 2029, with regular follow-up visits to monitor participants’ health.
Study on the Effects of Sodium Valproate for Hearing Preservation in Patients with Wolfram Syndrome
This trial directly addresses hearing loss in patients with Wolfram syndrome, investigating whether a commonly used seizure medication can help preserve hearing function over time.
Main inclusion criteria: Participants must have a confirmed diagnosis with either diabetes or optic atrophy diagnosed before age 16, along with specific genetic mutations. They must be 13 years or older and weigh more than 37.5 kilograms. Importantly, patients must have sensorineural hearing loss of at least 20 decibels at a frequency of 8 kilohertz. Women of childbearing potential must use effective contraception throughout the study and for at least 90 days after the last dose. All participants must provide written informed consent and be willing to attend all study visits.
Main exclusion criteria: Patients without confirmed Wolfram syndrome or without the specified level of hearing loss cannot participate. Those who cannot maintain the required blood plasma level of the medication (between 40 and 100 mg/l) are excluded. Patients must also be within the specified age range and willing to follow all study procedures.
Study focus: The trial examines whether sodium valproate can prevent further hearing loss in people with Wolfram syndrome who already have some degree of hearing impairment. The study lasts three years and includes regular assessments of hearing, vision, balance, and sleep patterns. Safety monitoring is conducted throughout to track any adverse events and changes in other medications patients may need.
Investigational treatment: Patients take Depakine Chrono 500 mg (sodium valproate) as a prolonged-release tablet taken by mouth. The dosage is adjusted for each patient to maintain a plasma level between 40 and 100 mg/l. Regular hearing tests, visual assessments, and balance evaluations are performed to measure treatment effects. The study is expected to conclude by December 2027.
Study on Tirzepatide for Improving Insulin Production in Patients with Wolfram Syndrome Type 1
This trial explores a novel approach to addressing the diabetes component of Wolfram syndrome type 1 by investigating whether a newer diabetes medication can help the body produce more of its own insulin.
Main inclusion criteria: Participants must have a confirmed diagnosis of Wolfram syndrome type 1, including diabetes diagnosed before age 16 and specific genetic mutations. Patients must be at least 5 years old. Both the patient (or their parents or legal guardians) must sign an informed consent form after understanding the study details. Women of childbearing age must have a negative pregnancy test and agree to use effective contraception if sexually active. All participants must be willing to wear a continuous glucose monitor throughout the study.
Main exclusion criteria: While specific exclusion criteria were not detailed extensively, standard safety considerations for diabetes trials apply, ensuring participants can safely undergo the testing procedures required.
Study focus: The study investigates whether tirzepatide can effectively improve the body’s natural insulin production in individuals with Wolfram syndrome type 1. This is measured using a specific test that assesses C-peptide levels, which is a marker of insulin production. Different doses of tirzepatide (2.5 mg, 5 mg, and 7.5 mg) are compared to determine which is most effective. The research aims to determine if this treatment can be a beneficial option for managing the diabetes aspect of the condition.
Investigational treatment: Tirzepatide is administered as an injection under the skin, typically in the abdomen, thigh, or upper arm. It works by activating two important receptors in the body that help regulate blood sugar levels and can help increase insulin production. The study lasts up to 12 months, with ongoing monitoring of participants’ response to treatment. The trial is expected to conclude by July 2025.
Summary
Three clinical trials are currently ongoing for Wolfram syndrome across Europe, each addressing different aspects of this complex genetic disorder. The trials span eight European countries, with concentration in Western and Central Europe, particularly Poland, Germany, Austria, Sweden, Belgium, Spain, France, and Italy.
Two trials focus specifically on Wolfram syndrome management: one investigating sodium valproate for hearing preservation in Spain and France, and another studying tirzepatide for improving insulin production in Italy. A third trial, conducted across multiple countries, examines COVID-19 vaccination in children with high genetic risk for type 1 diabetes, which relates to the diabetes component seen in Wolfram syndrome.
The trials demonstrate diverse therapeutic approaches, from repurposing existing medications like sodium valproate to exploring newer treatments such as tirzepatide. They address the major complications of the syndrome, including hearing loss and diabetes, reflecting the multisystem nature of the disorder. The studies vary in duration from one year to several years, with the longest running until 2029, indicating sustained research commitment in this rare disease area.
