Evaluating the effects of lithium treatment in Cornelia De Lange Syndrome
Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment
This study is testing if lithium treatment can help improve behavior, communication, thinking skills, and sleep in kids and adults with Cornelia De Lange Syndrome.
Quick facts
| Phase | Phase2; Phase3 |
|---|---|
| Study type | Interventional |
| Enrollment | 34 (estimated) |
| Ages | 4 Years and up |
| Sex | All |
| Sponsor | University of Milan Academic / other |
| Locations | 1 site (Milan, MI) |
| Trial ID | NCT06789783 on ClinicalTrials.gov |
What this trial studies
This clinical trial aims to assess the effectiveness of lithium carbonate therapy on behavioral modifications in patients with Cornelia De Lange Syndrome (CdLS). It is a multicenter, non-commercial pilot study that will evaluate primary outcomes using the Aberrant Behavior Checklist and secondary outcomes including communication skills, cognitive performance, and sleep quality. The study will involve patients aged over 4 years with a confirmed diagnosis of CdLS and will monitor various behavioral and cognitive parameters throughout the treatment period.
Who should consider this trial
Good fit: Ideal candidates for this study are children and adolescents over 4 years old diagnosed with Cornelia De Lange Syndrome and meeting specific health criteria.
Not a fit: Patients with significant medical disorders unrelated to CdLS or those currently participating in another clinical trial may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve behavioral and cognitive outcomes for patients with Cornelia De Lange Syndrome.
How similar studies have performed: While lithium treatment has been explored in various contexts, this specific application for Cornelia De Lange Syndrome is novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Milan, MI
- University of Milan — Milan, Mi, Italy (Recruiting)
Study contacts
- Principal investigator: Aglaia Vignoli, Professor, MD — University of Milan
- Study coordinator: Aglaia Vignoli, Professor, MD
- Email: aglaia.vignoli@unimi.it
- Phone: +390264443960
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.