Genetic Disease, KCNC1 Related Disorder, Rare Diseases
Conditions
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.
Interventions
DRUGFluoxetine
Oral fluoxetine daily, 2.5 to 5 mg.
Sponsors
The Hospital for Sick Children
Holland Bloorview Kids Rehabilitation Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Masking description
This quasi experimental design involves masking of transition moments, but the investigator and participant are aware of the order of cross-over.
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
Canada
Outcome results
None listed