Fluoxetine in KCNC1-related Disorder

Not Applicable

• Conditions: Genetic Disease; Rare Diseases; KCNC1 Related Disorder
• Interventions: Drug: Fluoxetine

• Registration Number: NCT06341127
• Lead Sponsor: Holland Bloorview Kids Rehabilitation Hospital

Brief Summary

This is a single patient study of oral powdered fluoxetine to target developmental outcomes in a child with KCNC1-related disorder. This trial will be conducted at Holland Bloorview Kids Rehabilitation Hospital over 32 to 42 weeks, using a quasi experimental ABA phase design (placebo-fluoxetine-placebo) with randomized and blinded active treatment start and stop moments.

Detailed Description

Not available

Study Timeline

• Study Start: 2024-01-17
• Status Verified: 2024-02
• Study First Submitted: 2024-02-12
• Study First Submitted QC: 2024-03-25
• Last Update Submitted: 2024-03-25
• Study First Posted: 2024-04-02
• Last Update Posted: 2024-04-02
• Primary Completion: 2024-12-01
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 1

Inclusion Criteria

1. Consent provided by substitute decision maker.
2. In good general health as evidenced by medical history
3. Screening baseline bloodwork (or availability of clinical bloodwork within 3 months of trial start) with values below relevant cut-offs for adequate hepatic and renal function, and baseline electrolytes including potassium within normal range.
4. Ability to take oral medication and be willing to adhere to the daily oral medication regimen

Exclusion Criteria

1. Current use of monoamine oxidase inhibitors, other selective serotonin reuptake inhibitors, tricyclic antidepressants, or agents that strongly affect metabolism via CYP2D6, CYP2C9 or CYP3A4.
2. Hypersensitivity to fluoxetine or to any ingredient in the formulation, including any non-medicinal ingredient, or component of the container
3. Treatment with another investigational drug or other medication intervention within 8 weeks of starting the trial.
4. Any condition or diagnosis, that could in the opinion of the Principal Investigator or delegate interfere with the participant's ability to comply with study instructions, might confound the interpretation of the study results, or put the participant at risk.
5. Long QT syndrome including acquired long QT syndrome (e.g., due to concomitant use of a drug that prolongs the QT); a family history of QT prolongation; or other clinical conditions that predispose to arrhythmias.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Placebo-Fluoxetine-Placebo	Fluoxetine	placebo (medical grade cornstarch in a gel capsule, 1 capsule daily), followed by blinded randomized cross-over moment to active fluoxetine (2.5 then 5 mg po daily), followed by blinded randomized cross-over moment back to placebo

Primary Outcome Measures

Name	Time	Method
Motor development	Weekly from date of randomization to up to 42 weeks	Parent report on the Early Motor Questionnaire
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]	From date of randomization to up to 42 weeks	Adverse event reporting

Secondary Outcome Measures

Name	Time	Method
Adaptive skills	Week 1, 13, 29 and 37	Vineland Adaptive Behavior Scale
Cognitive skills	Week 1, 13, 29 and 37	Mullen Scales of Early Learning
Family priority outcome targets	Weekly from date of randomization to up to 42 weeks	Measure Your Own Medical Profile- 2
Clinical Global Impression- Improvement Scale (CGI-I)	Every 4 weeks from date of randomization to up to 42 weeks	Clinician assessment of overall development

Trial Locations

Locations (1)

Holland Bloorview Kids Rehabilitation Hospital; 🇨🇦 Toronto, Ontario, Canada