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

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

Status

Active, not recruiting

Phases

Phase 1Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT07223632

Enrollment

Registered

2025-11-03

Start date

2025-05-13

Completion date

2027-03-01

Last updated

2026-08-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD)

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.

Interventions

DRUGVCA-894A

intrathecal antisense oligonucleotide injection

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

FEMALE

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
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.

Secondary

Measure	Time frame	Description
Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.	631 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.

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Aug 20, 2026