NCT06789783 Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment
| NCT ID | NCT06789783 |
| Status | Recruiting |
| Phase | Phase 2, Phase 3 |
| Sponsor | University of Milan |
| Condition | Cornelia De Lange Syndrome |
| Study Type | INTERVENTIONAL |
| Enrollment | 34 participants |
| Start Date | 2024-05-01 |
| Primary Completion | 2025-09 |
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 34 participants in total. It began in 2024-05-01 with a primary completion date of 2025-09.
⚠ 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 study "Cornelia de Lange Syndrome: assessing positive effects of Lithium treatment - CLoSER" aims to evaluate the effectiveness on behavioral modifications of lithium carbonate therapy in patients with Cornelia de Lange syndrome (CdLS). CdLS is a rare genetic disease caused by autosomal mutations dominant or X-linked. The prevalence of CdLS is estimated to be between 1:10,000-30,000 newborns, but it is probably underestimated because the most cases mild ones may go undiagnosed. This syndrome is characterized by slow growth before and after birth with intellectual disability and short stature, from major malformations such as facial anomalies, neurological disorders, gastrointestinal and musculoskeletal malformations. To date, for these patients only targeted medical and surgical therapeutic interventions are recommended for improving the quality of life. No drug therapy is validated for the cognitive/behavioral disorders. It has been shown that lihium-dependent activation of the WNT pathway is able to recover the Abnormal phenotype in many CdLS models. Lithium is already widely used in psychiatry and has a long history of clinical efficacy. Recently some studies are evaluating the effect of lithium in patients with characteristics common to CdLS showing promising results . This trial intends to transfer the preliminary data obtained from in vitro and in vivo studies on patients with CdLS. Given the currently untreatable nature of the syndrome, this treatment could represent a possible therapeutic strategy aimed at improving the behavioral and intellectual disabilities typical of CdLS.
Eligibility Criteria
Inclusion Criteria: * Age \> 4 years * Body weight within the normal range in the reference range for CdLS, based on age and height * Diagnosis of CdLS based on consensus clinical criteria and a confirmed mutation in the NIPBL gene * Stable drug regimen for 4 weeks prior to starting the study * Written consent signed by parent/legal guardian/representative prior to the screening visit * Ability to take the study drug provided in capsules or drops (for younger patients and those with swallowing difficulties) or combined with food/drinks * Caregiver must be able to understand the instructions and participate knowingly in the study Exclusion Criteria: * The patient is participating in another clinical trial * QT interval prolongation, thyroid dysfunction, renal insufficiency, hepatic insufficiency, leukopenia, or other currently clinically significant medical disorders (as determined by the investigator), other than those directly related to CdLS * QTcF interval on ECG greater than 450 msec * Severe diabetes mellitus or inherited metabolic disorder
Contact & Investigator
Aglaia Vignoli, Professor, MD
PRINCIPAL INVESTIGATOR
University of Milan
Frequently Asked Questions
Who can join the NCT06789783 clinical trial?
This trial is open to participants of all sexes, aged 4 Years or older, studying Cornelia De Lange 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 NCT06789783 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 NCT06789783 currently recruiting?
Yes, NCT06789783 is actively recruiting participants. Contact the research team at aglaia.vignoli@unimi.it for enrollment information.
Where is the NCT06789783 trial being conducted?
This trial is being conducted at Milan, Italy.
Who is sponsoring the NCT06789783 clinical trial?
NCT06789783 is sponsored by University of Milan. The principal investigator is Aglaia Vignoli, Professor, MD at University of Milan. The trial plans to enroll 34 participants.