The Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient With Confirmed IGHMBP2 Intronic Cryptic Splice Variant C. 1235+894C>A That is Amenable to Antisense Oligonucleotide (ASO)-Mediated Correction of IGHMBP2 Splicing
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 入组人数
- 1
- 试验地点
- 2
- 主要终点
- Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events.
研究概览
简要总结
This is an 'N of 1', open-label, single center study to evaluate the safety of therapy with VCA-894A, an ASO designed to rescue and restore the activity of IGHMBP2, when administered by intrathecal injection.
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
- Female
- 接受健康志愿者
- 否
入选标准
- •Ability and acceptance to provide written informed consent.
- •Genetically confirmed diagnosis of CMT2S with confirmed IGHMBP2 intronic cryptic splice variant c. 1235+894C>A.
排除标准
- •Significant clinical deterioration of the patient's neurologic status, as judged by the Investigator.
- •Non-reversible conditions that are contraindications to lumbar puncture.
- •Pregnancy, recent pregnancy (within 6 weeks), or women who are breastfeeding.
研究组 & 干预措施
VCA-894A
干预措施: VCA-894A (Drug)
结局指标
主要结局
Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events.
时间窗: 631 days
Safety will be assessed by determining the incidence, severity, and dose relationship of adverse events that are related to treatment with VCA-894A.
Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Revised Upper Limb Module for Spinal Muscular Atrophy (RULM).
时间窗: 631 days
The Revised Upper Limb Module for Spinal Muscular Atrophy (RULM) scores range from a minimum of 0 to a maximum of 37 points, with higher scores indicating better upper limb function.
Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Hammersmith Functional Motor Scale - Expanded (HFMSE).
时间窗: 631 days
The Hammersmith Functional Motor Scale - Expanded (HFMSE) scores range from a minimum of 0 to a maximum of 66 points, with higher scores indicating greater motor functioning.
Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events.
时间窗: 295 days
Safety will be assessed by determining the incidence, severity, and dose relationship of adverse events that are related to treatment with VCA-894A.
Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Revised Upper Limb Module for Spinal Muscular Atrophy (RULM).
时间窗: 295 days
The Revised Upper Limb Module for Spinal Muscular Atrophy (RULM) scores range from a minimum of 0 to a maximum of 37 points, with higher scores indicating better upper limb function.
Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Hammersmith Functional Motor Scale - Expanded (HFMSE).
时间窗: 295 days
The Hammersmith Functional Motor Scale - Expanded (HFMSE) scores range from a minimum of 0 to a maximum of 66 points, with higher scores indicating greater motor functioning.
次要结局
- Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.(631 days)
- Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.(295 days)