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Study on the Effectiveness of Methylphenidate for Children and Adolescents with KBG Syndrome

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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 the effects of the medication methylphenidate hydrochloride in children and adolescents who have a condition called KBG syndrome. KBG syndrome is a rare genetic disorder that can cause developmental delays, distinctive facial features, and other health issues. The trial aims to determine how effective methylphenidate hydrochloride is in managing symptoms related to attention deficit and ADHD (Attention Deficit Hyperactivity Disorder) in individuals with KBG syndrome.

Participants in the study will receive either methylphenidate hydrochloride in tablet form or a placebo. Methylphenidate hydrochloride is commonly used to treat ADHD and works by affecting certain chemicals in the brain that contribute to hyperactivity and impulse control. The study will involve taking the medication orally, and the treatment period will last for a specified duration. Throughout the study, participants will be monitored for any changes in their symptoms and any potential side effects of the medication.

The purpose of this study is to gather information on the effectiveness of methylphenidate hydrochloride in improving attention and reducing ADHD-related symptoms in those with KBG syndrome. The study will use various questionnaires and assessments to evaluate the impact of the treatment on participants' daily lives and emotional well-being. This research could provide valuable insights into managing symptoms of KBG syndrome and improving the quality of life for those affected by this condition.

The research process

The trial runs in 7 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Participation begins after meeting specific criteria: age between 6 and 20 years, a confirmed diagnosis of KBG syndrome, and symptoms related to attention deficit or ADHD. A caregiver or supervisor must be present for reporting purposes.

  2. Step 2

    Medication administration

    The study involves taking methylphenidate hydrochloride tablets. The available dosages are 5 mg and 10 mg, administered orally. The specific dosage and frequency will be determined by the study protocol.

  3. Step 3

    Monitoring and assessment

    Throughout the trial, various assessments will be conducted to evaluate the effectiveness of the medication. These include the Strengths and Difficulties Questionnaire (ADHD subscale) and other tools like the SDQ emotional problems subscale and the Emotion Dysregulation Inventory reactivity index.

  4. Step 4

    Evaluation of personal goals

    Participants will engage in Goal Attainment Scoring and complete a Personal Questionnaire to assess personal progress and outcomes.

  5. Step 5

    Adverse effects monitoring

    An Adverse Effects checklist will be used to monitor any side effects experienced from the medication.

  6. Step 6

    Family and social assessment

    The McMaster Family Assessment Device will be used to evaluate general family functioning, providing insight into the social environment of the participant.

  7. Step 7

    Completion of the trial

    The trial is expected to conclude by July 1, 2027. Final assessments will be conducted to determine the overall effectiveness of the treatment.

Who can join the trial?

4 criteria

  • Age between 6 and 20 years old.
  • A confirmed diagnosis of KBG syndrome. This means having a specific change in the ANKRD11 gene or a missing piece of chromosome 16 that includes this gene.
  • Having problems with attention or symptoms related to ADHD (Attention Deficit Hyperactivity Disorder), or an official diagnosis of ADHD, which significantly affects daily life.
  • A caregiver or supervisor must be present to help provide information about the participant's condition.

Who cannot join the trial?

4 criteria

  • Patients who do not have **KBG syndrome** cannot participate. **KBG syndrome** is a rare genetic condition.
  • Patients who are not children or adolescents are excluded. This means the study is only for young people.
  • Patients who are not experiencing **attention deficit** or **ADHD-related symptoms** cannot participate. **Attention deficit** means having trouble focusing, and **ADHD** stands for Attention Deficit Hyperactivity Disorder, which includes symptoms like being very active and having trouble paying attention.
  • Patients who are not part of the vulnerable population selected for the study cannot participate. A **vulnerable population** refers to groups of people who might need special protection or care.
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Investigated drugs

Methylphenidate is a medication commonly used to treat attention deficit hyperactivity disorder (ADHD). In this clinical trial, it is being tested for its effectiveness in improving attention and reducing ADHD-related symptoms in children and adolescents with KBG syndrome. Methylphenidate works by affecting certain chemicals in the brain that contribute to hyperactivity and impulse control.

What is already known about the treatment

Methylphenidate – Methylphenidate is typically administered orally in the form of tablets or capsules. It is currently being studied for its effectiveness in treating attention deficit and ADHD-related symptoms in children and adolescents with KBG syndrome. This medication is well-established in medical literature for its use in managing ADHD. Methylphenidate works by increasing the levels of certain chemicals in the brain, such as dopamine and norepinephrine, which help improve attention and focus. It is classified as a central nervous system stimulant.

Investigated diseases

KBG syndrome – KBG syndrome is a rare genetic disorder characterized by distinctive facial features, skeletal anomalies, and developmental delays. Individuals with this condition often have a triangular face, large upper front teeth, and short stature. The syndrome can also affect the development of bones, leading to abnormalities such as delayed bone age or short fingers. Cognitive development may be impacted, resulting in learning difficulties or intellectual disabilities. Behavioral issues, including attention deficit and hyperactivity, are common in those with KBG syndrome. The condition is caused by mutations in the ANKRD11 gene and is typically inherited in an autosomal dominant pattern.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2023-506202-40-01Protocol code113883Estimated enrolment15 patientsSponsorStichting Radboud universitair medisch centrum

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