Charcot Marie Tooth Disease (CMT)Phase 1/2NCT07223632
Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
A Phase 1/2 study testing VCA-894A in people with Charcot Marie Tooth Disease (CMT) and Neuromuscular Diseases (NMD), run by Vanda Pharmaceuticals at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD)
- What is being tested?
- VCA-894A
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 13 May 2025to Mar 2027
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Ability and acceptance to provide written informed consent.
- Genetically confirmed diagnosis of CMT2S with confirmed IGHMBP2 intronic cryptic splice variant c. 1235+894C>A.
Who cannot join
- 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 locations and contacts
1 site in 1 country.
United States1 site
Vanda Investigational Site
Madison, Wisconsin, 53792
About this study
Official 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
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.
- Being tested
- VCA-894A
- Medical subject headings
- Charcot-Marie-Tooth Disease, Neuromuscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
VCA-894ADrug
intrathecal antisense oligonucleotide injection
| Study group | Role | What they receive |
|---|---|---|
| VCA-894A | Experimental | Not described Receives: Drug: VCA-894A |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events.
Safety will be assessed by determining the incidence, severity, and dose relationship of adverse events that are related to treatment with VCA-894A.
Measured: 631 days
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).
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.
Measured: 631 days
Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Hammersmith Functional Motor Scale - Expanded (HFMSE).
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.
Measured: 631 days
Secondary outcomes (1)
Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.
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.
Measured: 631 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2025
- Study start13 May 2025
- Primary completionMar 2027 (estimated)
- Study completionMar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Charcot Marie Tooth Disease (CMT)Studies of the same condition, open and under way.
- More trials run by Vanda PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vanda Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07223632
- Sponsor's protocol ID
- VP-VCA-894A-2101
- Status last verified
- Aug 2026
- First submitted
- 27 Oct 2025
- Last updated
- 19 Aug 2026
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Smieszek S, Przychodzen B, Tyner C, Johnson C, Bai H, Kwon JM, Hagan DW, Niccum C, Brighton R, Hawkins K, Aiken R, Nawaz A, Guo X, Hickman J, Polymeropoulos CM, Birznieks G, Polymeropoulos MH. Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S. Mol Ther Nucleic Acids. 2025 Feb 4;36(1):102479. doi: 10.1016/j.omtn.2025.102479. eCollection 2025 Mar 11.
PubMed 40060931
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT07223632
- Acronym / sponsor ID
- VP-VCA-894A-2101
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Vanda PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 13 May 2025 (actual)
- Primary completion
- Mar 2027 (estimated)
- Study completion
- Mar 2027 (estimated)
- First posted
- 3 Nov 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| VCA-894A | Experimental | Drug: VCA-894A |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Ability and acceptance to provide written informed consent.
- Genetically confirmed diagnosis of CMT2S with confirmed IGHMBP2 intronic cryptic splice variant c. 1235+894C>A.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| VCA-894Aintrathecal antisense oligonucleotide injection | Drug | VCA-894A |
Primary outcome
Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events.
Time frame: 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).
Time frame: 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).
Time frame: 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.
1 secondary outcome
Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.
Time frame: 631 days
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2026.
- Background: PubMed 40060931Smieszek S, Przychodzen B, Tyner C, Johnson C, Bai H, Kwon JM, Hagan DW, Niccum C, Brighton R, Hawkins K, Aiken R, Nawaz A, Guo X, Hickman J, Polymeropoulos CM, Birznieks G, Polymeropoulos MH. Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S. Mol Ther Nucleic Acids. 2025 Feb 4;36(1):102479. doi: 10.1016/j.omtn.2025.102479. eCollection 2025 Mar 11.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing VCA-894A in people with Charcot Marie Tooth Disease (CMT) and Neuromuscular Diseases (NMD), run by Vanda Pharmaceuticals at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 19 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events. (time frame: 631 days). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07223632, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Aug 2026.