Ongoing Clinical Trials for Alexander Disease

There is currently 1 ongoing clinical trial for Alexander Disease, a rare genetic disorder affecting the nervous system. This trial is testing a new investigational treatment called ION373, which is delivered directly into the spinal fluid to target the underlying cause of the condition. The study is being conducted in Italy and the Netherlands and is open to patients ranging from under 2 years old to 65 years of age.

Clinical trial locations

• Italy
  • Study of ION373 Given by Spinal Injection for Patients with Alexander Disease
• Netherlands
  • Study of ION373 Given by Spinal Injection for Patients with Alexander Disease

Study of ION373 Given by Spinal Injection for Patients with Alexander Disease

This clinical trial is evaluating an experimental treatment for Alexander Disease, a rare genetic condition that affects the brain and spinal cord. The disease occurs due to mutations in the GFAP gene, which causes abnormal protein deposits in specialized brain cells and leads to progressive problems with movement, speech, and swallowing.

Main inclusion criteria:

• Patients aged between 2 and 65 years old (with a separate open-label study for children under 2 years)
• Confirmed genetic mutation in the GFAP gene
• Brain imaging results that match Alexander Disease
• Ability to sit or walk depending on age: children aged 2-5 must be able to sit with minimal support for at least 10 seconds or complete a 10-meter walk within 5 minutes; those aged 5 and above must be able to walk with or without assistance
• Stable medications and therapy programs for at least 3 months before joining the study
• For patients under 18, a parent or caregiver must accompany them to study visits
• Women of childbearing age must use effective contraception and undergo regular pregnancy testing

Main exclusion criteria:

• No confirmed genetic diagnosis of Alexander Disease
• Participation in another clinical trial within the past 30 days
• Severe allergic reactions to similar medications
• Significant liver or kidney problems
• Pregnancy or planning to become pregnant during the study
• Currently receiving other experimental treatments
• Major surgery within the past 3 months
• Uncontrolled medical or severe psychiatric conditions
• Taking medications that could interact with the study drug

Focus and goals:

The trial aims to evaluate whether ION373 can improve or stabilize movement abilities in people with Alexander Disease. Participants will receive either the active medication or a placebo through intrathecal injections, meaning the treatment is delivered directly into the spinal fluid. The treatment period lasts for 61 weeks, which is approximately 14 months.

During the study, researchers will conduct various assessments depending on the patient’s age. Those aged 5 and older will complete a 10-meter walking test to measure their movement ability, while children under 5 will have their gross motor function evaluated using specific movement tests. Patients aged 8 and older will also complete a 9-hole peg test to assess hand function.

Throughout the study, doctors will monitor overall condition, collect spinal fluid samples to measure GFAP protein levels (a marker associated with the disease), and evaluate quality of life. Safety monitoring will be ongoing, with regular medical check-ups and tracking of any side effects. Final evaluations will compare each participant’s condition at the end of the study to their condition at the beginning.

Investigational drug:

ION373 is the experimental medication being tested in this trial. It is administered through intrathecal injection, meaning it is delivered directly into the space around the spinal cord. The medication is designed to target the underlying genetic cause of Alexander Disease with the goal of improving or stabilizing patients’ ability to move and control their muscles. This drug represents a potential breakthrough for a condition that currently has limited treatment options.

Summary

Currently, there is only one active clinical trial available for patients with Alexander Disease, being conducted in Italy and the Netherlands. This trial focuses exclusively on the investigational drug ION373, which is delivered through spinal injections. The study is inclusive of a wide age range, from children under 2 years old to adults up to 65 years of age, making it accessible to patients at different stages of the disease. The trial’s approach of targeting the underlying genetic cause through intrathecal administration represents an innovative strategy for treating this rare neurological condition. Patients interested in participating should discuss eligibility requirements with their healthcare provider, particularly regarding mobility criteria and the need for stable medical management prior to enrollment.