Ongoing Clinical Trials for Trisomy 21
Currently, there are 3 ongoing clinical trials investigating treatments and diagnostic tools for individuals with Trisomy 21 (Also known as: Down Syndrome). These studies are being conducted in Italy and Spain, focusing on cognitive improvement through medication and advanced brain imaging techniques to detect Alzheimer’s disease progression in this population.
Clinical trial locations
- Italy
- Spain
Study on Bumetanide for Improving Cognitive Function in Children and Adolescents with Down Syndrome
This trial is being conducted in Italy and focuses on whether a medication called Bumetanide can help improve thinking and learning abilities in young people aged 10 to 17 years.
Who can join: Children and adolescents between 10 and 17 years old with a confirmed genetic diagnosis are eligible. Participants need to have a mental age between 4.5 and 8.5 years, as measured by a special test called Leiter-3. Both the child and their parents must agree to participate by providing informed consent.
Who cannot join: The study excludes individuals who do not have the condition, those outside the 10-16 age range, anyone who cannot safely take Bumetanide, people with other medical conditions that might interfere with the study, and those unable to follow the study procedures or attend required visits.
What the trial involves: The main goal is to see if Bumetanide can improve cognitive functions such as memory and learning. Participants will take either Bumetanide (a 1 mg tablet taken by mouth) or a placebo for three months. Researchers will measure improvements using specific cognitive tests, particularly the Visual-Object learning test, where a 22% improvement is considered significant. They will also assess memory tasks, executive function, psychological well-being, adaptability, and quality of life.
The investigational drug: Bumetanide is typically used as a diuretic (water pill) to help remove excess fluid from the body. In this study, researchers are exploring whether it might also help improve thinking abilities in young people with the condition. It is taken orally and has been used safely in humans before with minimal side effects.
Study on Sleep and Temperature Changes in Alzheimer’s Disease for Down Syndrome Patients Using Izaflortaucipir (18F)
This trial, taking place in Spain, investigates how sleep problems and body temperature changes might affect the development of Alzheimer’s disease in adults with the condition.
Who can join: Men and women between 40 and 60 years old with a confirmed diagnosis through karyotyping (a chromosome test) are eligible. Participants should have mild to moderate intellectual disabilities, meaning they can still understand and follow instructions. They must be in good general health and should not have any additional cognitive impairments beyond what is expected.
Who cannot join: The study excludes people without the condition, those outside the specified age range, individuals who already have a diagnosis of Alzheimer’s disease, and those who are part of vulnerable populations requiring special protection.
What the trial involves: This study uses a special imaging agent called [18F]PI-2620, which is injected slowly into a vein. This agent helps researchers take detailed pictures of the brain using magnetic resonance imaging (MRI). The goal is to understand how sleep disorders and body temperature variations might influence Alzheimer’s disease progression. Participants will undergo initial assessments including neuropsychological evaluations, baseline brain imaging, regular follow-up assessments, and a final comprehensive evaluation at the end of the study.
The investigational agent: [18F]PI-2620 is an imaging solution administered through injection that allows doctors to visualize specific brain regions and changes associated with Alzheimer’s disease.
Study on the Use of 18F-PI-2620 to Detect Alzheimer’s in People with Down Syndrome
This Spanish trial focuses on testing how well a special brain imaging agent can detect early signs of Alzheimer’s disease in people with the condition.
Who can join: Men and women over 35 years old are eligible. For the general population group, participants must have no memory or thinking complaints, normal results on memory tests (MMSE scores between 24 and 30, FCSRT score of 8 or higher), and a CDR scale score of 0, indicating no signs of dementia. For participants with the condition specifically, they must be over 35, have an IQ higher than 34 (indicating mild to moderate intellectual disability), have a reliable person who knows them well to provide information, and either they or their legal guardian must sign the consent form.
Who cannot join: The study excludes patients who already have a diagnosis of Alzheimer’s disease.
What the trial involves: The study uses 18F-PI-2620, an imaging agent that helps detect tau protein build-up in the brain through PET scans. Tau protein accumulation is linked to Alzheimer’s disease. After receiving the injection, participants undergo a PET scan within 90 minutes to see how the agent highlights affected brain areas. The study aims to gather information on how well this agent works in identifying these brain changes and to ensure it is safe for use. Participants are monitored for any side effects for 24 hours after the injection and may return for follow-up assessments to measure the tracer’s effectiveness over time.
The investigational agent: 18F-PI-2620 is a diagnostic radiopharmaceutical that binds to tau proteins in the brain, making them visible on PET scans. This helps doctors better understand and potentially diagnose Alzheimer’s disease progression in individuals with the condition.
Summary
These three clinical trials represent important efforts to improve both treatment and diagnosis for individuals with Trisomy 21. A notable observation is the geographic concentration of research, with one study in Italy and two in Spain. The Italian trial focuses on a potential treatment approach using Bumetanide to improve cognitive function in younger individuals, while both Spanish trials concentrate on better understanding and detecting Alzheimer’s disease in adults with the condition.
The research demonstrates two distinct approaches: one therapeutic, aiming to improve daily functioning and quality of life through cognitive enhancement, and two diagnostic, using advanced brain imaging technology to better understand how Alzheimer’s disease develops in this population. The Spanish studies both utilize specialized imaging agents to visualize brain changes, with one specifically examining the relationship between sleep patterns, body temperature, and disease progression.
It is noteworthy that the age groups targeted differ significantly, with the Italian study focusing on children and adolescents (ages 10-17) while the Spanish studies target adults (over 35 years, with one specifically for ages 40-60). This reflects the different research priorities across the lifespan for individuals with this condition.
