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.
Eligibility
Sex
FEMALE
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Ability and acceptance to provide written informed consent.
* Genetically confirmed diagnosis of CMT2S with confirmed IGHMBP2 intronic cryptic splice variant c. 1235+894C\>A.
Exclusion Criteria:
* 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.
Primary outcome measure(s)
Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events. — 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). — 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). — 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.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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