METHYLPHENIDATE HYDROCHLORIDE for KBG syndrome

Inclusion criteria

• {"criterion_text":"- Age 6-20 years"}
• {"criterion_text":"- Molecularly confirmed diagnosis of KBG syndrome (pathogenic ANKRD11 variant or a chromosome 16q24 deletion including ANKRD11)"}
• {"criterion_text":"- Attention deficit or ADHD-related symptoms or a formal ADHD diagnosis, with a significant impact on daily life"}
• {"criterion_text":"- Presence of a subject’s caregiver or supervisor for proxy-reports"}

Exclusion criteria

• {"criterion_text":"- Family history of acute cardiac death that warrants further cardiac investigation"}
• {"criterion_text":"- Inability to understand or speak Dutch"}
• {"criterion_text":"- 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)"}
• {"criterion_text":"- Current or previous presence of hyperthyroidism, glaucoma or pheochromocytoma"}
• {"criterion_text":"- Use of (psychotropic/stimulant) drugs which interact with methylphenidate"}
• {"criterion_text":"- Schizophrenic or psychotic disorder in medical history"}
• {"criterion_text":"- Unstable epilepsy (not controlled with medication)"}
• {"criterion_text":"- History of frequent drug and/or alcohol abuse"}
• {"criterion_text":"- Excessive alcohol/drug use and/or intoxication with one or both during the study"}
• {"criterion_text":"- Pregnant or lactating women"}

Primary endpoints

• {"endpoint_text":"- Strenghts and Difficulties Questionnaire, ADHD subscale","definition_or_measurement_approach":"Measured using the Strengths and Difficulties Questionnaire (SDQ), ADHD subscale"}

Secondary endpoints

• {"endpoint_text":"- SDQ, emotional problems subscale","definition_or_measurement_approach":"Measured using the Strengths and Difficulties Questionnaire (SDQ), emotional problems subscale"}
• {"endpoint_text":"- Dutch shortened version of the Emotion Dysregulation Inventory (EDI) reactivity index","definition_or_measurement_approach":"Measured using the Dutch shortened Emotion Dysregulation Inventory (EDI) reactivity index"}
• {"endpoint_text":"- Goal Attainment Scoring (GAS)","definition_or_measurement_approach":"Assessed using Goal Attainment Scaling (GAS)"}
• {"endpoint_text":"- Personal Questionnaire (PQ)","definition_or_measurement_approach":"Assessed using the study-specific Personal Questionnaire (PQ)"}
• {"endpoint_text":"- Adverse Effects checklist for methylphenidate","definition_or_measurement_approach":"Assessed using an adverse effects checklist specific for methylphenidate"}
• {"endpoint_text":"- McMaster Family assessment device (FAD), subscale General Functioning","definition_or_measurement_approach":"Measured using the McMaster Family Assessment Device (FAD) general functioning subscale"}
• {"endpoint_text":"- Previous IQ test results","definition_or_measurement_approach":"Documented prior IQ test results (as recorded in medical/educational records)"}
• {"endpoint_text":"- ADOS-2","definition_or_measurement_approach":"Assessed using the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2)"}

Netherlands

Earliest CTIS Part Ii Submission Date

29-05-2024

Latest Decision Or Authorization Date

27-06-2024

Processing Time Days

29

Number Of Sites

1

Number Of Participants

15

Primary sponsor

Full Name

Stichting Radboud University Medical Center

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Netherlands