Lithium treatment for TBR1-related neurocognitive disorder

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

TBR1 is a brain-specific gene implicated in autism spectrum disorders and intellectual disability, and animal and cell studies suggest that some pathogenic variants disrupt normal brain function. This pilot, multicentre, controlled open-label study gives 24 months of lithium carbonate with an initial observation phase and ongoing biological monitoring. Eligible participants are people aged 6 or older with a confirmed pathogenic or likely pathogenic TBR1 variant who can take oral tablets and meet contraception and caregiver attendance requirements. The trial will track cognitive and behavioral outcomes alongside safety and laboratory measures to determine whether lithium produces measurable benefit.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Written informed consent from the patient, parent or legal representative
* ≥6 years old at the time of consent
* Proven pathogenic or probably pathogenic TBR1 variant (SNV confirmed by Sanger sequencing or CNV including only TBR1)
* If applicable: Stable concomitant psychoactive medication regimen (dose and schedule) ≥2 months prior to lithium initiation
* Affected individuals able to take tablet /capsules orally
* Highly effective method of contraception in affected female individuals of childbearing age (Combined hormonal contraception, progestogen-only hormonal contraception, intrauterine device, intrauterine hormone-releasing system or abstinence) during treatment and for at least 3 months after the final dose of lithium
* Highly effective method of contraception in affected men individuals of childbearing age (condom or abstinence) during the treatment and for at least 5 days after the final dose of lithium
* 1 available parent/guardian able to attend all visits having acceptable reading skills

Exclusion Criteria:

Criteria related to associated pathologies leading to particular risks:

* Renal/liver insufficiency (disturbed liver function, abnormal creatinine clearance)
* Unbalanced thyroid or diabetic pathology
* Long QT/Brugada syndrome or familial antecedent of Brugada syndrome, cardiac insufficiency
* Addison disease, dehydration, sodium restriction
* Non-stabilized epileptic disease.

Criteria related to contra-indication to treatment:

* Patient with concomitant diseases for which the experimental treatment by lithium could alter the tolerance
* Hypersensitivity to lactose, lithium or one of its excipients
* Patient with a wheat allergy (other than celiac disease)
* Pregnant or breastfeeding woman

Criteria related to treatments/procedures:

* Parent/guardian incapable of expressing consent
* Person not affiliated to a national health insurance scheme
* Person subject to a court order
* Cognitivo-behavioural therapy focused on ASD in 6 weeks previous to inclusion
* Other genetic pathogenic variant associated to neurocognitive disorders
* Any introduction of psychotropic molecules within 2 months prior to the trial, including neuroleptics, monoamine oxidase inhibitors, stimulants, antidepressants.
* Concomitant use of Angiotensin-Converting Enzyme (ACE) inhibitor, angiotensin II receptor antagonists, Nonsteroidal anti-inflammatory drugs, diuretics.
* Current lithium treatment
* Severe behavioural disorder or refusal to take drug treatment not allowing for compliance with medication;
* Impossibility to perform blood tests to check the lithiaemia when the patient is included.
* Participation in another therapeutic trial

Where it's running

• CHU Dijon Bourgogne
  Dijon, France Recruiting

Study contacts

• Study coordinator: Sophie NAMBOT
• Email: sophie.nambot@chu-dijon.fr
• Phone: 0380295313

Similar studies

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

• Chorioretinal Imaging and Vascular Biomarkers in Ultra-Trail Runners

  This study tests whether noninvasive eye imaging can reveal retinal and choroidal blood vessel changes in ultra-trail runners compared with active controls.

  Recruiting Centre Hospitalier Universitaire Dijon · Dijon · NCT07748936

• Lipid and mitochondrial clues in aortic aneurysm with bicuspid or tricuspid valves

  This study tests whether inflammatory and metabolic signatures in myeloid cells and aortic tissue differ between patients with bicuspid versus tricuspid aortic valves who need surgery for ascending aortic aneurysm.

  Recruiting Centre Hospitalier Universitaire Dijon · Dijon · NCT07695545

• Value of trio genome sequencing in early-onset and atypical psychiatric disorders

  This study tests whether sequencing the genomes of a patient and both biological parents can help explain early-onset or unusual psychiatric disorders in people without intellectual disability or congenital anomalies.

  Recruiting Centre Hospitalier Universitaire Dijon · Dijon · NCT07686653

• Pupillometry to predict postoperative pain after heart surgery

  We’re testing whether measuring pupil responses can help predict how much pain a patient will feel after heart surgery once tubes come out and the patient can communicate.

  Recruiting Centre Hospitalier Universitaire Dijon · Dijon · NCT07648342

• BDNF Levels and Atrial Cardiomyopathy in People Having AF Ablation

  This study tests whether circulating BDNF levels are linked to atrial cardiomyopathy in adults having their first ablation for persistent atrial fibrillation.

  Recruiting Centre Hospitalier Universitaire Dijon · Dijon · NCT07648329

• Cardiac Amyloidosis: See if Intracardiac Thrombi are Common on CT

  This study tests whether a contrast-enhanced cardiac CT can reliably detect intracardiac thrombi in adults with cardiac amyloidosis.

  Recruiting Centre Hospitalier Universitaire Dijon · Dijon · NCT07648303

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.