NCT06465823 Efficacy of Bumetanide to Improve Cognitive Functions in Down Syndrome
| NCT ID | NCT06465823 |
| Status | Recruiting |
| Phase | Phase 2 |
| Sponsor | Stefano Vicari |
| Condition | Down Syndrome |
| Study Type | INTERVENTIONAL |
| Enrollment | 64 participants |
| Start Date | 2023-01-11 |
| Primary Completion | 2025-12-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
In Phase 2, researchers evaluate early signs of effectiveness. You may be randomized to receive the active treatment or a comparator. Monitoring continues closely.
This trial targets 64 participants in total. It began in 2023-01-11 with a primary completion date of 2025-12-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
The aim of the study is to evaluate the clinical efficacy of a known diuretic drug, Bumetanide, in terms of improvement of memory and psychological functioning in children and adolescents with Down syndrome (DS), in order to develop therapeutic strategies for cognitive and psychopathology aspects associated with the syndrome. The study also aims to identify possible predictors and biological and genetic markers related to the efficacy of the treatment. Recently, preliminary studies conducted on the animal model of Down syndrome have proven the efficacy of the drug Bumetanide in counteracting some brain anomalies related to communication between nerve cells (synaptic transmission) typical of the syndrome, with the effect of improving memory skills. Behaviour-enhancing effects have also been found in preliminary studies in humans with other neurodevelopmental disorders (e.g., autism spectrum disorders). The drug Bumetanide could therefore be useful in counteracting the biological mechanisms that cause some cognitive deficits associated with Down syndrome. The potential of this therapeutic approach will be tested through a clinical trial in a population of children and adolescent patients with DS, in a randomized placebo-controlled trial with a three-month treatment with Bumetanide. Participants will be randomly assigned to the experimental group that will receive the treatment (Bumetanide) vs the control/comparison group that will receive the placebo. Bumetanide is a diuretic drug that has been widely used in humans in the past with few side effects, is orally active, and is very inexpensive. 64 participants will be recruited.
Eligibility Criteria
Principal inclusion criteria 1. The presence of a free trisomy 21 documented by karyotyping 2. Adolescents from 10 to 17 years old (included) 3. 3 4.5 ≥ Mental age ≤ 8.5 (as assessed by Leiter-3 at visit 1 or by assessment with Leiter-3 within 6 months of the first visit (Visit 1) 4. Informed consent from their parents and assent from child/adolescent Principal exclusion criteria 1. The presence of any neurosensory deficits, such as hypoacusis or serious visual impairments; 2. The presence of epilepsy; 3. The presence of electrolyte disorders; 4. The presence of clinically and/or hemodynamically significant congenital heart defects, defined as patients with congenital heart disease who already underwent or are awaiting surgical/percutaneous correction (including palliative cardiac surgery as Glenn and/or Fontan) or who are under current treatment with cardiac medications. 5. The presence of a hypersensibility known about sulpha drugs; 6. The presence of contraindications relative to the treatment by Bumetanide; 7. Patients already treated by diuretics; 8. Any of the following abnormal laboratory values at screening: * Hemoglobin \<10 g/dL * Abnormal liver function defined as any 2 or more of the following: ≥3 × upper limit of normal (ULN) aspartate aminotransferase (AST), ≥3 × ULN alanine aminotransferase (ALT), ≥3 × ULN gamma-glutamyl transpeptidase (GGT), ≥3 × ULN alkaline phosphatase (ALP), or ≥2 × ULN total bilirubin * Abnormal liver function defined as any increase of ≥5 × ULN AST or ALT * Estimated glomerular filtration rate ≤80 mL/min/1.73 m2 (calculated by the Schwartz equation) * Plasma HCO3 \> 32 i) A 12-lead ECG demonstrating QTc \>450 msec at screening; j) Subject's weight less than 25 Kg. k) Pregnancy as assessed by urine beta HCG
Contact & Investigator
Stefano Vicari
PRINCIPAL INVESTIGATOR
Bambino Gesù Children's Hospital
Frequently Asked Questions
Who can join the NCT06465823 clinical trial?
This trial is open to participants of all sexes, aged 10 Years or older, up to 17 Years, studying Down Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT06465823 trial and what does that mean for participants?
Phase 2 trials evaluate whether the treatment shows signs of effectiveness while continuing to monitor safety. More participants are enrolled than in Phase 1 to help refine the treatment protocol.
Is NCT06465823 currently recruiting?
Yes, NCT06465823 is actively recruiting participants. Contact the research team at paolo.alfieri@opbg.net for enrollment information.
Where is the NCT06465823 trial being conducted?
This trial is being conducted at Rome, Italy.
Who is sponsoring the NCT06465823 clinical trial?
NCT06465823 is sponsored by Stefano Vicari. The principal investigator is Stefano Vicari at Bambino Gesù Children's Hospital. The trial plans to enroll 64 participants.