Fluoxetine in KCNC1-related Disorder

NCT06341127 | Completed

• 1 other identifier: 2023-01
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

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.

Conditions

KCNC1 Related Disorder; Genetic Disease; Rare Diseases

Outcome Measures

Primary Outcomes (2)

• Motor development

  Parent report on the Early Motor Questionnaire

  Weekly from date of randomization to up to 42 weeks

• Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]

  Adverse event reporting

  From date of randomization to up to 42 weeks

Secondary Outcomes (4)

• Adaptive skills

  Week 1, 13, 29 and 37

• Cognitive skills

  Week 1, 13, 29 and 37

• Family priority outcome targets

  Weekly from date of randomization to up to 42 weeks

• Clinical Global Impression- Improvement Scale (CGI-I)

  Every 4 weeks from date of randomization to up to 42 weeks

Study Arms (1)

Placebo-Fluoxetine-Placebo

EXPERIMENTAL

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

Drug: Fluoxetine

Interventions

Fluoxetine DRUG

Oral fluoxetine daily, 2.5 to 5 mg.

Placebo-Fluoxetine-Placebo

Eligibility Criteria

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

You may qualify if:

• Consent provided by substitute decision maker.
• In good general health as evidenced by medical history
• 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.
• Ability to take oral medication and be willing to adhere to the daily oral medication regimen

You may not qualify if:

• Current use of monoamine oxidase inhibitors, other selective serotonin reuptake inhibitors, tricyclic antidepressants, or agents that strongly affect metabolism via CYP2D6, CYP2C9 or CYP3A4.
• Hypersensitivity to fluoxetine or to any ingredient in the formulation, including any non-medicinal ingredient, or component of the container
• Treatment with another investigational drug or other medication intervention within 8 weeks of starting the trial.
• 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.
• 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.

Sponsors & Collaborators

• Holland Bloorview Kids Rehabilitation Hospital: lead
• The Hospital for Sick Children: collaborator

Study Sites (1)

Holland Bloorview Kids Rehabilitation Hospital

Toronto, Ontario, M5G1R8, Canada

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn; Rare Diseases

Interventions

Fluoxetine

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Propylamines; Amines; Organic Chemicals

Study Officials

• Danielle Baribeau, MD, PhD

  Holland Bloorview Kids Rehabilitation Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Masking Details: This quasi experimental design involves masking of transition moments, but the investigator and participant are aware of the order of cross-over.
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 12, 2024
• First Posted: April 2, 2024
• Study Start: January 17, 2024
• Primary Completion: November 28, 2024
• Study Completion: November 28, 2024
• Last Updated: July 2, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)