Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment

Launched by UNIVERSITY OF MILAN · Jan 16, 2025

Keywords

ClinConnect Summary

The clinical trial titled "Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment" is exploring whether lithium carbonate can help improve behavior and cognitive issues in patients with Cornelia de Lange Syndrome (CdLS). CdLS is a rare genetic condition that affects growth and development, leading to challenges such as intellectual disabilities and physical differences. Currently, there are no approved medications specifically for treating the behavioral and cognitive aspects of this syndrome, making this trial particularly important for families seeking new treatment options.

To be eligible for the study, participants must be over 4 years old, have a confirmed diagnosis of CdLS, and be on a stable medication regimen for at least four weeks before starting the trial. Parents or guardians will need to provide consent for their child to participate. If enrolled, participants will receive lithium in capsule or liquid form, and their caregivers will help ensure they understand how to take the medication. This trial could potentially provide a new way to improve the quality of life for individuals with CdLS by addressing some of the behavioral and intellectual challenges they face.

Gender

ALL

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