Posterior Column Ataxia With Retinitis Pigmentosa
Conditions
Brief summary
The goal of this clinical trial is to evaluate a specific antisense oligonucleotide medication in one patient with posterior column ataxia with retinitis pigmentosa. The main question it aims to answer is: what is the safety and tolerability of this medication in a single participant.
Interventions
DRUGnL-FLVC-001
nL-FLVC-001 is an antisense oligonucleotide that will be injected into the vitreous
Sponsors
University of Colorado, Denver
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s). * Genetically confirmed FLVCR1-related disease. * Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
Exclusion criteria
* Allergy to any of the ASO components * Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of participants with treatment-related adverse events as assessed by CTCAE v4.0 | Over 12 months |
| We will measure visual acuity, retinal thickness, examine changes in fundus photos and biomicroscopic exam post nL-FLVC-001 administration in a participant with FLVCR1 gene mutation | Over 12 months |
Secondary
| Measure | Time frame |
|---|---|
| Measure any changes in the Cardiff Visual Ability Questionnaire for Children (CVAQC-25) in one patient with PCARP after nL-FLVC-001 intravitreal injection. | Over 12 months |
Countries
United States
Outcome results
None listed