RecruitingPhase 4NCT06465641

Methylphenidate in KBG Syndrome: N-of-1 Series

Effectiveness of Methylphenidate in Children and Adolescents With KBG Syndrome: An N-of-1 Series

Sponsor

Radboud University Medical Center

Enrollment

15 participants

Start Date

Nov 13, 2024

Study Type

INTERVENTIONAL

Conditions

ADHD - Combined Type Kbg Syndrome

Summary

The goal of this clinical trial\] is to learn about the effect of methylphenidate in children and adolescents with KBG syndrome. The main question it aims to answer is: • What is the effectiveness of methylphenidate on attention deficit and ADHD-related symptoms in children and adolescents with KBG syndrome? Participants will receive multiple blocks of treatment with methylphenidate and placebo and fill out various questionnaires.

Eligibility

Min Age: 6 YearsMax Age: 20 Years

Inclusion Criteria4

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 Criteria10

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