Ongoing Clinical Trials for Rett Syndrome
This article provides information about 2 ongoing clinical trials investigating new treatments for Rett syndrome, a rare genetic disorder affecting brain development. These studies are testing mirtazapine and leriglitazone to see if they can improve various symptoms including social behavior, breathing problems, and motor skills in affected individuals.
Clinical trial locations
- Italy
- Spain
Study on the Effects of Mirtazapine for Improving Symptoms in Patients with Rett Syndrome
This clinical trial is taking place in Italy and focuses on studying whether mirtazapine can help improve symptoms in individuals with Rett syndrome. The study aims to evaluate improvements in social behavior, facial and breathing functions, and physical movements.
Main inclusion criteria: This study is looking for female patients who are older than 5 years and weigh more than 10 kilograms. Participants must have a confirmed diagnosis with a change in the MECP2 gene. An important requirement is that patients must have breathing problems such as stopping breathing for short periods, breathing too fast at times, holding their breath, swallowing air, or forcing air or saliva out. The patient must have at least ten episodes of these breathing problems during the day in the week before joining the study. Participants must have been on a stable medication plan for 4 weeks before the study begins. The caregiver must understand the study’s purpose and be able to help throughout the research.
Main exclusion criteria: Males cannot participate in this study. Individuals who are outside the specified age range or who have certain other medical conditions beyond Rett syndrome may not be eligible. Participants from vulnerable populations that might be at risk during the study are also excluded.
Study focus: The trial will assess which symptoms mirtazapine can improve, depending on the age and severity of each participant’s condition. The medication is given as an oral solution called Mirtapil, containing mirtazapine at a concentration of 15 mg/ml. The effectiveness will be measured using various scales including the Motor-Behavior Assessment Scale, Anxiety, Depression, and Mood Scale, and the Rett Syndrome Behaviour Questionnaire. The study will also monitor sleep patterns, hand function, and overall behavior using medical devices for remote sensing and additional assessment tools. Blood tests will measure biomarker levels to assess the biological response to treatment. The study is expected to end in August 2025.
Investigational drug: Mirtazapine is a medication that works by modulating neurotransmitters in the brain, particularly by enhancing the release of norepinephrine and serotonin, which can help improve mood and behavior. It is classified as a tetracyclic antidepressant and is being studied in a Phase II clinical trial for its potential to improve social behavior and various physical functions in individuals with Rett syndrome.
Study on the Safety and Tolerability of Leriglitazone for Children with Rett Syndrome
This clinical trial is being conducted in Spain and is designed to evaluate the safety and tolerability of leriglitazone in children with Rett syndrome. The study uses a double-blind, randomized, placebo-controlled design, meaning neither participants nor researchers will know who is receiving the actual treatment or the placebo until the study is complete.
Main inclusion criteria: The study is looking for female patients between the ages of 5 and 12 years old. Participants must have a diagnosis of classical or typical Rett syndrome, confirmed by a specific change in the MECP2 gene. They must have a severity score between 10 and 36 on a specific scale used to measure the condition. Patients must be able to swallow the study medication, which is given as a liquid suspension. The medication can also be given through a nasogastric tube or a gastrostomy tube if needed. If the patient is of childbearing age, she must either not be able to have children or agree to use a reliable method to prevent pregnancy from at least 4 weeks before starting the study until 4 weeks after it ends. The patient’s parent or legal guardian must provide signed written consent before any study procedures begin.
Main exclusion criteria: Males cannot participate in this study. Participants must not have any other serious health conditions that could interfere with the study or be taking medications that might affect study results. Patients with a history of allergic reactions to similar medications, those who are pregnant or planning to become pregnant during the study, and those who have participated in another clinical trial recently are not eligible. Participants should not have any mental health conditions that could affect their ability to follow study instructions.
Study focus: The primary goal is to evaluate the safety and tolerability of leriglitazone over a period of up to 36 weeks. Participants will take the oral suspension daily, and safety will be assessed based on adverse events and other safety considerations. Secondary assessments will include changes in behavior, motor skills, communication abilities, and caregiver burden. The study will also track the number of seizures, apnea episodes, and hyperventilation episodes that participants experience each week. Various questionnaires and scales will be used throughout the study to monitor participants’ health and any changes in their condition. The trial is expected to end in November 2025.
Investigational drug: Leriglitazone is a neuroprotective agent that is believed to work by modulating specific pathways in the brain, potentially improving neurological function. It is administered orally and is currently in the investigational stage, with ongoing research to assess its safety and tolerability in pediatric patients with Rett syndrome. The medication aims to support brain health and function.
Summary
Currently, there are 2 ongoing clinical trials for Rett syndrome, each taking place in a different European country. One trial is being conducted in Italy, focusing on mirtazapine, while the other is taking place in Spain, studying leriglitazone. Both trials are specifically designed for female patients, reflecting the fact that Rett syndrome primarily affects girls.
The Italian study is investigating whether mirtazapine can improve breathing problems, social behavior, and motor skills in patients aged 5 years and older. This trial places particular emphasis on patients who experience frequent breathing difficulties and aims to understand how the medication can help depending on age and severity of symptoms.
The Spanish study focuses on younger children, specifically those aged 5 to 12 years, and aims to establish the safety and tolerability of leriglitazone. This trial uses a placebo-controlled design to ensure reliable results and monitors a wide range of outcomes including behavior, motor skills, communication, and the frequency of seizures and breathing irregularities.
Both trials require participants to have a confirmed genetic diagnosis with a mutation in the MECP2 gene, ensuring that the research focuses on classical or typical forms of the syndrome. The studies reflect different approaches to addressing this complex condition, with one focusing on symptom improvement in a broader age range and the other concentrating on safety evaluation in younger children. These trials represent important steps in understanding potential new treatment options for individuals living with Rett syndrome.
