KCNC1 Related DisorderNCT06341127
Fluoxetine in KCNC1-related Disorder
A study testing Fluoxetine in people with KCNC1 Related Disorder and Genetic Disease, run by Holland Bloorview Kids Rehabilitation Hospital at 1 site in Canada.
Trial 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… Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- KCNC1 Related Disorder, Genetic Disease, Rare Diseases
- What is being tested?
- Fluoxetine
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteCanada
- Study dates
- 17 Jan 2024to 28 Nov 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
Canada1 site
Holland Bloorview Kids Rehabilitation Hospital
Toronto, Ontario, M5G1R8
About this study
Official title: A Single Patient Trial of Fluoxetine in KCNC1-related Disorder
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
- Being tested
- Fluoxetine
- Medical subject headings
- Genetic Diseases, Inborn, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
FluoxetineDrug
Oral fluoxetine daily, 2.5 to 5 mg.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Drug: Fluoxetine |
What is being measured
The primary outcome is the main question the study is designed to answer.
Motor development
Parent report on the Early Motor Questionnaire
Measured: Weekly from date of randomization to up to 42 weeks
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]
Adverse event reporting
Measured: From date of randomization to up to 42 weeks
Secondary outcomes (4)
Adaptive skills
Vineland Adaptive Behavior Scale
Measured: Week 1, 13, 29 and 37
Cognitive skills
Mullen Scales of Early Learning
Measured: Week 1, 13, 29 and 37
Family priority outcome targets
Measure Your Own Medical Profile- 2
Measured: Weekly from date of randomization to up to 42 weeks
Clinical Global Impression- Improvement Scale (CGI-I)
Clinician assessment of overall development
Measured: Every 4 weeks from date of randomization to up to 42 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2024
- Study start17 Jan 2024
- Primary completion28 Nov 2024
- Study completion28 Nov 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for KCNC1 Related DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Holland Bloorview Kids Rehabilitation Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- The Hospital for Sick Children
- Responsible party
- Sponsor
- Investigators
- Danielle Baribeau, MD, PhD, Principal investigator, Holland Bloorview Kids Rehabilitation Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06341127
- Sponsor's protocol ID
- 2023-01
- Status last verified
- Jun 2025
- First submitted
- 12 Feb 2024
- Last updated
- 2 Jul 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Single patient trial; would be challenging to de-identify.
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Single Patient Trial of Fluoxetine in KCNC1-related Disorder
- ClinicalTrials.gov ID
- NCT06341127
- Acronym / sponsor ID
- 2023-01
- Conditions
- KCNC1 Related Disorder, Genetic Disease, Rare Diseases
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Holland Bloorview Kids Rehabilitation HospitalUniversity, hospital or other
- Collaborators
- The Hospital for Sick Children
- Study start
- 17 Jan 2024 (actual)
- Primary completion
- 28 Nov 2024 (actual)
- Study completion
- 28 Nov 2024 (actual)
- First posted
- 2 Apr 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Placebo-Fluoxetine-Placebo | Experimental | Drug: Fluoxetineplacebo (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 |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| FluoxetineOral fluoxetine daily, 2.5 to 5 mg. | Drug | Placebo-Fluoxetine-Placebo |
Primary outcome
Motor development
Time frame: 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]
Time frame: From date of randomization to up to 42 weeks
Adverse event reporting
4 secondary outcomes
Adaptive skills
Time frame: Week 1, 13, 29 and 37
Cognitive skills
Time frame: Week 1, 13, 29 and 37
Family priority outcome targets
Time frame: Weekly from date of randomization to up to 42 weeks
Clinical Global Impression- Improvement Scale (CGI-I)
Time frame: Every 4 weeks from date of randomization to up to 42 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2025.
- Individual participant dataSharing planned: No. Single patient trial; would be challenging to de-identify.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Danielle Baribeau, MD, PhD principal investigator
Holland Bloorview Kids Rehabilitation Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Fluoxetine in people with KCNC1 Related Disorder and Genetic Disease, run by Holland Bloorview Kids Rehabilitation Hospital at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Motor development (time frame: Weekly from date of randomization to up to 42 weeks). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2025.