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Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment

NCT06789783 · Status: RECRUITING · Phase: PHASE2/PHASE3 · Type: INTERVENTIONAL · Enrollment: 34

Last updated 2025-01-28

No results posted yet for this study

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.

Conditions

  • Cornelia De Lange Syndrome

Interventions

DRUG

Lithium Carbonate Capsule

10mg/Kg twice a day, 150mg or 300mg Lithium Carbonate

Sponsors & Collaborators

  • University of Milan

    lead OTHER

Principal Investigators

  • Aglaia Vignoli, Professor, MD · University of Milan

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-05-01
Primary Completion
2025-09-30
Completion
2026-12-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06789783 on ClinicalTrials.gov