Antisense Oligonucleotide Treatment for PCARP Disease Due to Mutation in FLVCR1

Early Phase 1Enrolling By InvitationNCT06565572

University of Colorado, Denver1 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Posterior Column Ataxia with Retinitis Pigmentosa

Interventions

nL-FLVC-001DRUG

nL-FLVC-001 is an antisense oligonucleotide that will be injected into the vitreous

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

Locations (1)

Childrens Hospital Colorado

Aurora, Colorado, United States

Outcomes

Primary Outcomes

Number of participants with treatment-related adverse events as assessed by CTCAE v4.0

Time frame: 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

Time frame: Over 12 months

Secondary Outcomes

Measure any changes in the Cardiff Visual Ability Questionnaire for Children (CVAQC-25) in one patient with PCARP after nL-FLVC-001 intravitreal injection.

Time frame: Over 12 months

Data from ClinicalTrials.gov

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