Evaluating the effects of lithium treatment in Cornelia De Lange Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.