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Study on Lithium Carbonate for Patients with TBR1-Related Neurocognitive Disorder

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a condition known as TBR1-related neurocognitive disorder. This disorder is linked to changes in the TBR1 gene, which can affect brain function and development. The study will explore the effects of a treatment using lithium carbonate, a medication commonly used to treat mood disorders. In this trial, lithium carbonate will be administered in the form of capsules or tablets.

The purpose of the study is to evaluate how 24 months of treatment with lithium carbonate can impact the behavior and quality of life of individuals with TBR1-related neurocognitive disorder. Participants will first undergo an observation period lasting between 6 to 12 months. Following this, they will receive lithium carbonate treatment for 24 months. During this time, researchers will monitor changes in adaptive behavior, which refers to how well a person can adjust to their environment and daily life activities.

Throughout the study, participants will be assessed at various intervals to track improvements in socialization, communication, and overall quality of life. The study will also look at any side effects related to lithium carbonate and changes in brain activity. This research aims to provide valuable insights into the potential benefits and safety of using lithium carbonate for individuals with TBR1-related neurocognitive disorder.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Observational period

    The trial begins with an observational period lasting between 6 to 12 months. During this time, no medication is administered. The purpose is to establish a baseline for your adaptive behavior, which will be measured using the Vineland II Adaptive Behaviour Scale (VABS-II).

  2. Step 2

    Start of treatment

    After the observational period, you will begin treatment with lithium carbonate. This medication is taken orally, either in capsule or tablet form. The specific dosage and frequency will be determined by the study team based on your individual needs.

  3. Step 3

    Treatment duration

    The treatment with lithium carbonate will continue for 24 months. During this time, your adaptive behavior will be regularly assessed to monitor any changes or improvements.

  4. Step 4

    Regular assessments

    Throughout the 24-month treatment period, you will undergo regular assessments. These assessments will include evaluations of your socialization and communication skills, quality of life, and any changes in behavior. The assessments will occur at 6, 12, 18, and 24 months.

  5. Step 5

    Monitoring for side effects

    During the trial, you will be monitored for any side effects related to the lithium carbonate treatment. The severity and frequency of any adverse events will be recorded and managed by the study team.

  6. Step 6

    End of treatment

    At the end of the 24-month treatment period, a final assessment will be conducted to evaluate the overall impact of the lithium carbonate on your adaptive behavior and other measured outcomes.

Who can join the trial?

8 criteria

  • Written informed consent from the patient, parent, or legal representative. This means you or your guardian must agree in writing to participate in the study.
  • Must be 6 years old or older at the time of giving consent.
  • Must have a proven pathogenic or probably pathogenic TBR1 variant. This is a specific change in the TBR1 gene confirmed by special tests.
  • If you are taking any psychoactive medication (medicines that affect your mind), the dose and schedule must be stable for at least 2 months before starting lithium treatment.
  • Must be able to take tablets or capsules by mouth.
  • If you are a female of childbearing age, you must use a highly effective method of contraception (like certain birth control pills or devices) during the treatment and for at least 3 months after the last dose of lithium.
  • Must have one available parent or guardian who can attend all visits and has acceptable reading skills.
  • If you are a male of childbearing age, you must use a highly effective method of contraception (like a condom) during the treatment and for at least 5 days after the last dose of lithium.

Who cannot join the trial?

5 criteria

  • Patients who do not have a proven or probably pathogenic variant of the TBR1 gene cannot participate. This means that if you do not have a specific change in the TBR1 gene that is known or likely to cause disease, you cannot join the study.
  • Patients who are not within the specified age range cannot participate. The study is open to certain age groups, so if you are not in one of these groups, you cannot join.
  • Patients who are not part of the specified clinical trial group cannot participate. This means that if you do not belong to the group of people the study is focusing on, you cannot join.
  • Patients who are not male or female cannot participate. The study is open to both males and females, so if you do not identify as either, you cannot join.
  • Patients who are not considered part of a vulnerable population cannot participate. This means that if you are not part of a group that is considered to need special protection, you cannot join.
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Investigated drugs

Lithium Carbonate is a medication used in this clinical trial to help manage symptoms in patients with TBR1-related neurocognitive disorder. It is commonly used to treat mood disorders, such as bipolar disorder, by stabilizing mood swings. In this study, the goal is to see if taking lithium carbonate for 24 months can improve adaptive behavior, which means helping patients better manage daily activities and interactions. The trial will observe patients for 6 to 12 months before starting the lithium carbonate treatment to understand its effects better.

What is already known about the treatment

Lithium Carbonate – Lithium carbonate is administered orally, typically in the form of tablets or capsules. It is currently being studied in clinical trials for its potential benefits in treating TBR1-related neurocognitive disorders, a condition linked to specific genetic variants. The main therapeutic indication for lithium carbonate in this context is to improve adaptive behavior in patients with this disorder. At the molecular level, lithium carbonate is believed to work by affecting neurotransmitter pathways in the brain, which can help stabilize mood and cognitive functions. It is classified pharmacologically as a mood stabilizer.

Investigated diseases

TBR1-related neurocognitive disorder – This disorder is associated with genetic variants in the TBR1 gene, which plays a crucial role in brain development. It is characterized by a range of neurodevelopmental issues, including intellectual disability and difficulties in communication and socialization. The progression of the disorder can vary, but it often involves challenges in adaptive behavior, which refers to the ability to adjust to new situations and to learn new skills. Individuals may also experience behavioral issues and, in some cases, seizures. The disorder is considered rare, and its symptoms can manifest in early childhood, continuing to affect development as the individual grows. The severity and specific symptoms can differ widely among those affected.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase ITrial ID2024-513955-34-00Protocol codeESALITEstimated enrolment12 patientsSponsorCentre Hospitalier Universitaire De Dijon

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On this site, “treatment” means an investigational medicine being studied in a clinical trial. Its safety and efficacy for the use being studied have not yet been confirmed, some participants may receive a placebo or a comparator medicine, and taking part does not guarantee any health benefit. The decision to take part is made by the doctor at the research site. This site is for information only and does not replace medical advice.

This service is not affiliated with the European Commission, the EMA, or the official CTIS system. Most information comes from publicly available international clinical-trial registries, supplemented by data from academic sites, national regulators and commercial sponsors. On this site, “treatment” and “therapy” mean a medicine being tested in a clinical trial. Its safety and effectiveness in the use being studied are not yet confirmed, some participants may receive a placebo or a comparator, and taking part does not guarantee a health benefit. The doctor at the research site decides who can take part. This site provides information, not medical advice. Certain content and visual elements on this website have been generated or enhanced using artificial intelligence (AI).