Methylphenidate in KBG Syndrome: N-of-1 Series

NCT06465641 | Recruiting Phase 4

• 1 other identifier: 113883
• Study Type: interventional
• Target: 15
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Kbg Syndrome; ADHD - Combined Type

Outcome Measures

Primary Outcomes (1)

• Strenghts and difficulties questionnaire, ADHD subscale

  Minimum score 1, maximum score 10 (higher score is worse outcome).

  Baseline, and daily in week 1,3,5,7,9,11

Secondary Outcomes (7)

• Strenghts and difficulties questionnaire, emotional problems subscale

  Baseline, and daily in week 1,3,5,7,9,11

• Dutch shortened version of the Emotion Dysregulation Inventory (EDI) reactivity index

  Baseline, and daily in week 1,3,5,7,9,11

• Goal Attainment Scoring (GAS)

  Baseline, and at the end of week 1,3,5,7,9,11

• Personal Questionnaire (PQ)

  Baseline, and at the end of week 1,3,5,7,9,11

• Adverse Effects checklist for methylphenidate

  Baseline, and daily in week 1,3,5,7,9,11

Study Arms (2)

Methylphenidate

ACTIVE COMPARATOR

Methylphenidate hydrochloride in capsules

Drug: Methylphenidate Hydrochloride

Placebo

PLACEBO COMPARATOR

Microcrystalline cellulose in capsules

Drug: Placebo

Interventions

Methylphenidate Hydrochloride DRUG

Methylphenidate hydrochloride in capsules

Methylphenidate

Placebo DRUG

Microcrystalline cellulose in capsules

Placebo

Eligibility Criteria

• Age: 6 Years - 20 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Radboud University Medical Center: lead

Study Sites (1)

Radboud University Medical Center

Nijmegen, Gelderland, 6500 HB, Netherlands

RECRUITING

MeSH Terms

Conditions

KBG syndrome

Interventions

Methylphenidate

Intervention Hierarchy (Ancestors)

Phenylacetates; Acids, Carbocyclic; Carboxylic Acids; Organic Chemicals; Piperidines; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds

Central Study Contacts

Charlotte Ockeloen, MD

CONTACT

+31243613946; charlotte.ockeloen@radboudumc.nl

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: Placebo
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: N-of-1 series (aggregated N-of-1 trial)

Study Record Dates

• First Submitted: February 6, 2024
• First Posted: June 20, 2024
• Study Start: November 13, 2024
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): October 1, 2027
• Last Updated: December 27, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• Time Frame: After publication, no end date
• Access Criteria: Researchers who provide a methodologically sound proposal.

Locations

NL (1)