Methylphenidate in KBG Syndrome: N-of-1 Series

Launched by RADBOUD UNIVERSITY MEDICAL CENTER · Jun 18, 2024

Keywords

ClinConnect Summary

This clinical trial is studying how effective a medication called methylphenidate is for improving attention and symptoms of ADHD in children and teenagers with KBG syndrome, a rare genetic condition. The main goal is to see if this medication can help these young people focus better and manage their ADHD-related challenges. Participants in the trial will alternate between taking methylphenidate and a placebo (a look-alike pill that doesn't have the medication) while filling out questionnaires to share their experiences.

To be eligible for this study, children and teens aged 6 to 20 must have a diagnosed case of KBG syndrome and show symptoms of attention deficits or ADHD that affect their daily lives. They need to have a caregiver present to help report on their experiences during the study. It's important to note that some individuals may not qualify if they have certain heart conditions, a history of serious mental health issues, or are currently using specific medications that could interfere with the study. Participants will have the opportunity to help researchers learn more about KBG syndrome and potentially improve treatments for others with similar challenges.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Age 6-20 years
• • Molecularly confirmed diagnosis of KBG syndrome (pathogenic ANKRD11 variant or a chromosome 16q24 deletion including ANKRD11)
• • Attention deficit or ADHD-related symptoms or a formal ADHD diagnosis, with a significant impact on daily life\*
• • Presence of a subject's caregiver or supervisor for proxy-reports
• Exclusion Criteria:
• • Family history of acute cardiac death that warrants further cardiac investigation
• • Cardiovascular disease in medical history (severe hypertension, heart failure, arterial occlusive disease, potentially life-threatening arrythmias, angina pectoris, hemodynamically significant congenital heart defect, cardiomyopathy, myocardial infarction and channelopathy)
• • Current or previous presence of hyperthyroidism, glaucoma or pheochromocytoma
• • Use of (psychotropic/stimulant) drugs which interact with MPH
• • Schizophrenic or psychotic disorder in medical history
• • Unstable epilepsy (not controlled with medication)
• • History of frequent drug and/or alcohol abuse
• • Excessive alcohol/drug use and/or intoxication with one or both during the study
• • Pregnant or lactating women
• • Inability to understand or speak Dutch