Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient

Not Applicable

Active, not recruiting

• Conditions: Charcot Marie Tooth Disease (CMT); Neuromuscular Diseases (NMD)
• Interventions: Drug: VCA-894A

• Registration Number: NCT07223632
• Lead Sponsor: Vanda Pharmaceuticals

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2025-05-13
• Status Verified: 2025-10
• Study First Submitted: 2025-10-27
• Study First Submitted QC: 2025-10-30
• Last Update Submitted: 2025-10-30
• Study First Posted: 2025-11-03
• Last Update Posted: 2025-11-03
• Primary Completion: 2026-03
• Study Completion: 2026-03-01

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: Female
• Target Recruitment: 1

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
VCA-894A	VCA-894A	-

Primary Outcome Measures

Name	Time	Method
Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events.	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).	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).	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.

Secondary Outcome Measures

Name	Time	Method
Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.	295 days	IGHMBP2 mRNA, which is the target of VCA-894A therapy, will be measured in both the cerebrospinal fluid (CSF) and blood by qPCR relative expression.

Trial Locations

Locations (1)

Vanda Investigational Site; 🇺🇸 Madison, Wisconsin, United States