Methylphenidate in KBG syndrome

Overview

Sponsor-declared trial summary

Key facts

Sponsor

Stichting Radboud University Medical Center

Participant type

Pediatric, Patients

Age range

0-17 years, 18-64 years

Gender

Male and Female

Therapeutic area

Psychiatry and Psychology [F] - Behavioral Disciplines and Activities [F04]

Trial duration

1 Oct 2024 → ongoing

Decision date (initial)

2024-06-27

Transition trial

No

Low-intervention

Yes

Rare-disease indication

Yes

Vulnerable population

Yes

Funding sources

Radboud University Medical Center (Radboudumc) · KBG Foundation

Trial design

CTIS Part I — objectives, methods, condition coding

Main objective

Scope: Therapy

The main objective is to determine the effectiveness of methylphenidate on attention deficit and ADHD-related symptoms in children and adolescents with KBG syndrome.

Secondary objectives 6

1. To investigate the effect op MPH on emotional symptoms.
2. To determine the effect of methylphenidate on emotion regulation, general functioning and specific goals that are important to the patient and his/her environment by means of Goal Attainment Scaling (GAS).
3. To investigate if the frequency, nature and severity of adverse events differ from children with idiopathic ADHD.
4. To investigate family functioning.
5. To investigate if IQ influences response to MPH treatment.
6. To investigate the prevalence of autism spectrum disorder in this cohort.

Conditions and MedDRA coding

KBG syndrome

Regulatory references

Plan to share IPD

Yes

IPD plan description

Research documents and data that may be useful for future use are selected by the sponsor and included in the Data Sharing Collection (DSC) of the Radboud Data Repository so that they can be found and reused publicly. The files in a repository do not contain directly identifiable data or login names and passwords. The sponsor records the choices made regarding making research data available for future research in the DMP. Data will be available only for researchers who present a methodologically sound proposal.

Eligibility criteria

Principal inclusion / exclusion criteria as submitted by sponsor

Inclusion criteria 4

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

Exclusion criteria 10

1. Family history of acute cardiac death that warrants further cardiac investigation
2. 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)
3. Current or previous presence of hyperthyroidism, glaucoma or pheochromocytoma
4. Use of (psychotropic/stimulant) drugs which interact with methylphenidate
5. Schizophrenic or psychotic disorder in medical history
6. Unstable epilepsy (not controlled with medication)
7. History of frequent drug and/or alcohol abuse
8. Excessive alcohol/drug use and/or intoxication with one or both during the study
9. Pregnant or lactating women
10. Inability to understand or speak Dutch

Endpoints

Primary and secondary outcome measures (English text)

Primary endpoints 1

1. Strenghts and Difficulties Questionnaire, ADHD subscale

Secondary endpoints 8

1. SDQ, emotional problems subscale
2. Dutch shortened version of the Emotion Dysregulation Inventory (EDI) reactivity index
3. Goal Attainment Scoring (GAS)
4. Personal Questionnaire (PQ)
5. Adverse Effects checklist for methylphenidate
6. McMaster Family assessment device (FAD), subscale General Functioning
7. Previous IQ test results
8. ADOS-2

Investigational products

Investigational medicinal products (IMPs), comparators, placebo, auxiliary

Test 2

Placebo 1

Sponsors and contacts

Sponsor organisations, regulatory contacts, third parties

Stichting Radboud University Medical Center

Sponsor organisation

Stichting Radboud University Medical Center

Address

Geert Grooteplein Zuid 10

City

Nijmegen

Postcode

6525 GA

Country

Netherlands

Scientific contact point

Organisation

Stichting Radboud University Medical Center

Contact name

Charlotte W. Ockeloen

Public contact point

Organisation

Stichting Radboud University Medical Center

Contact name

Charlotte W. Ockeloen

Locations

1 EU/EEA country · 1 investigational sites

By country

Investigational sites

Country notifications

Trial-start, recruitment-start, end and early-termination notifications submitted per Member State

Results and documents

Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial

Documents 5 files

Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.

Application history

2 submissions — initial application plus substantial / non-substantial modifications