Ongoing Clinical Trials for KBG Syndrome
Currently, there is 1 ongoing clinical trial for KBG syndrome, a rare genetic disorder that can cause developmental delays, distinctive facial features, and behavioral issues including attention deficit and hyperactivity. This trial is investigating whether methylphenidate, a medication commonly used for ADHD, can help manage attention-related symptoms in children and adolescents with KBG syndrome. The study is being conducted in the Netherlands.
Clinical trial locations
- Netherlands
Study on the Effectiveness of Methylphenidate for Children and Adolescents with KBG Syndrome
This clinical trial is examining whether methylphenidate hydrochloride can help manage attention deficit and ADHD-related symptoms in young people with KBG syndrome. The study is taking place in the Netherlands and is expected to conclude by July 2027.
Who can participate:
- Children and adolescents between 6 and 20 years old
- Those with a confirmed diagnosis of KBG syndrome, meaning they have a specific change in the ANKRD11 gene or a missing piece of chromosome 16 that includes this gene
- Young people experiencing problems with attention or symptoms related to ADHD, or those with an official ADHD diagnosis that significantly affects their daily life
- A caregiver or supervisor must be available to help provide information about the participant’s condition
Who cannot participate:
- Individuals who do not have KBG syndrome
- Adults (the study is only for children and adolescents)
- Young people who are not experiencing attention deficit or ADHD-related symptoms
What the trial involves:
The main goal of this study is to determine how effective methylphenidate hydrochloride is in improving attention and reducing ADHD-related symptoms in those with KBG syndrome. Methylphenidate works by affecting certain chemicals in the brain, specifically dopamine and norepinephrine, which help improve attention and focus. It is commonly used to treat ADHD in the general population and is classified as a central nervous system stimulant.
Participants will receive either methylphenidate hydrochloride tablets or a placebo. The medication comes in 5 mg and 10 mg doses and is taken by mouth. Throughout the study, researchers will monitor participants using various assessment tools, including:
- The Strengths and Difficulties Questionnaire to evaluate ADHD symptoms
- Assessments for emotional problems and emotion regulation
- Goal Attainment Scoring to track personal progress
- An Adverse Effects checklist to monitor any side effects from the medication
- The McMaster Family Assessment Device to evaluate family functioning and the participant’s social environment
The study aims to gather valuable information about how this treatment might improve the quality of life for those affected by KBG syndrome, particularly in managing difficulties with attention, hyperactivity, and impulse control that are common in this condition.
Investigational drug:
Methylphenidate hydrochloride is the medication being tested in this trial. It is administered orally in tablet form and is a well-established treatment for ADHD. In this study, researchers are specifically investigating whether it can help children and adolescents with KBG syndrome who experience attention deficit and ADHD-related symptoms.
Summary
There is currently one active clinical trial for KBG syndrome, focusing specifically on children and adolescents aged 6 to 20 years. The trial is being conducted in the Netherlands and represents an important step in understanding how to better manage the attention and behavioral challenges that often accompany this rare genetic disorder.
The study’s focus on methylphenidate is particularly relevant since attention deficit and ADHD-like symptoms are common features of KBG syndrome. While methylphenidate is well-established for treating ADHD in the general population, this trial will provide specific evidence about its effectiveness and safety in individuals with KBG syndrome. The comprehensive assessment approach, including evaluation of emotional well-being, family functioning, and personal goals, reflects an understanding that treatment success goes beyond just reducing symptoms.
For families affected by KBG syndrome who are interested in this research, the trial offers an opportunity to contribute to scientific knowledge about this rare condition while potentially accessing a treatment that may help manage challenging symptoms. The study is expected to continue until mid-2027.
