NCT06565572Enrolling By Invitation早期 1 期
An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for PCARP (Posterior Column Ataxia With Retinitis Pigmentosa) Disease Due to Mutations in FLVCR1
干预措施
相关药物
试验速览
- 阶段
- 早期 1 期
- 状态
- Enrolling By Invitation
- 入组人数
- 1
- 试验地点
- 2
- 主要终点
- Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
nL-FLVC-001 Arm
Experimental
nL-FLVC-001 is an antisense oligonucleotide that will be injected into the vitreous
干预措施: nL-FLVC-001 (Drug)
结局指标
主要结局
Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
时间窗: 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
时间窗: Over 12 months
次要结局
- 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)
研究者
研究点 (2)
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