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

Vanda Pharmaceuticals

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Charcot Marie Tooth Disease (CMT); Neuromuscular Diseases (NMD)

Treatments: Drug: VCA-894A

Study type: Interventional

Funder types: Industry

Identifiers

NCT07223632

VP-VCA-894A-2101

Details and patient eligibility

About

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.

Enrollment: 1 patient

Sex: Female

Volunteers: No 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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

VCA-894A

Experimental group

Treatment:

Drug: VCA-894A