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Active, Not Recruiting

NCT Number: NCT07223632

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Charcot Marie Tooth Disease (CMT) Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Neuromuscular Diseases (NMD) Peripheral Nervous System Diseases Polyneuropathies

Sex eligibility

Female

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Vanda Investigational Site

Madison, Wisconsin, 53792, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

VCA-894A

Drug

intrathecal antisense oligonucleotide injection

Primary outcomes

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

    Time frame: 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.

  2. 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).

    Time frame: 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.

  3. Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Hammersmith Functional Motor Scale - Expanded (HFMSE).

    Time frame: 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 outcomes

  1. Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Vanda Pharmaceuticals

Industry

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Nov 3, 2025
Registry last updated
Nov 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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