Charcot-Marie-Tooth Disease, Type 1NCT06218134
Evaluate the Safety and Potential Efficacy of Human Wharton's Jelly-derived Mesenchymal Stem Cells With Charcot-Marie-Tooth Disease Type 1E
A study testing human Wharton's jelly-derived mesenchymal stem cells in people with Charcot-Marie-Tooth Disease, Type 1, run by Samsung Medical Center at 1 site in South Korea.
Trial summary
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral nerve disease that causes causes muscle atrophy, muscle weakness, sensory loss, balance disorder, gait disorder, blindness, hearing disorder, breathing disorder, vocal cord paralysis, foot deformity, scoliosis, and reflex dysfunction, More than 140 types of… Read more about this study
- Who is it for?
- Ages 19 years and older
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Type 1
- What is being tested?
- human Wharton's jelly-derived mesenchymal stem cells
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteSouth Korea
- Study dates
- 23 May 2024to 28 Oct 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 19 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Those who voluntarily agreed to participate in this clinical study
- Men and women over 19 years of age as of the date of written consent
- Those who meet all of the following genetic and clinical diagnostic criteria
- Genetic diagnosis: CMT1E
- Clinical diagnosis
- CMTNS score of 2 or more
Show all 12Show fewer
- Those with muscle weakness due to foot dorsiflexion
- Women or men of childbearing potential who agreed to use the appropriate contraceptive method suggested in the protocol during the clinical study period.
- Appropriate contraception is defined as follows, and is achieved by applying one or more methods of contraception.
- Hormonal contraceptives
- Implantation of an intrauterine device or intrauterine system
- Sterilization procedures (vasectomy, tubal ligation, etc.)
Who cannot join
- Those with the following comorbidities confirmed at the time of screening (1) Those who have a neuromuscular disease other than CMT1E or a neuropathy- causing factor (uremia) that may affect the safety and treatment effect of this clinical study, according to the judgment of the researcher. (2) Those diagnosed with type 1 or type 2 diabetes (3) Those diagnosed with active pulmonary tuberculosis (4) Patients with uncontrolled hypertension (systolic blood pressure over 180 mmHg or diastolic blood pressure over 110 mmHg) (5) Persons with other clinically significant diseases, including significant heart, lung, liver, kidney, hematological, immunological or behavioral diseases or malignant tumors, according to the judgment of the researcher. (6) Those who show the following test abnormalities in clinical laboratory tests at the time of screening
- AST(spartate aminotransferase) or ALT(alanine aminotransferase) > 3 x ULN(upper limit of normal) ②Total bilirubin > 1.5 x ULN(upper limit of normal)
- Serum creatinine > 1.5 x ULN(upper limit of normal)
- D-dimer > 1.5 x ULN(upper limit of normal)
- ⑤ Serum virus test (HBsAg, anti-HBc, anti-HCV, Positive for any one of HIV Ag/Ab)
- (If anti-HBc positive) However, registration is possible if the HBV DNA test result is negative.
Show all 27Show fewer
- (If anti-HCV positive) However, registration is possible if the HCV RNA test result is negative.
- Medical history and surgical history
- <!-- -->
- Those who have undergone orthopedic surgery (bone or ligament correction, artificial joint implantation, osteotomy, arthroscopic surgery) on the lower extremities within 24 weeks before screening
- Those with a history of stroke or cerebral ischemic attack within 48 weeks before screening
- Those with a history of coronary artery disease, such as myocardial infarction or incomplete angina, within 48 weeks before screening
- Persons with a history of malignant tumor within 240 weeks prior to screening (excluding basal cell carcinoma or squamous cell carcinoma that occurs on the skin) 3) Drugs and therapies prohibited from concurrent use
- <!-- -->
- A person who participated in another clinical trial and administered/applied an investigational drug or medical device within 4 weeks before screening
- Those who administered/applied immunosuppressants, chemotherapy, radiation therapy, etc. within 12 weeks before screening
- Those who administered stem cell therapy or gene therapy within 240 weeks before screening
- Persons who have administered neurotoxic drugs that may accelerate peripheral nerve damage
- Platinum series: cisplatin, carboplatin, oxaliplatin
- Taxane series: paclitaxel, docetaxel
- Proteasome inhibitors: bortezomib, carfilzomib, ixazomib, etc.
- thalidomide and derivatives: thalidomide, lenalidomide, pomalidomide
- Vinca alkaloid series: vincristine, vinblastine, vindesine, vinorelbine
- Antiarrhythmic drug: amiodarone
- Anti-inflammatory and antibiotic: colchicine, nitrofurantoin
- Antiretroviral drugs: zalcitabine, stavudine
- Others: dichloroacetate, tacrolimus, suramin 4) Persons with hypersensitivity to the components of human cells (EN001) used in this clinical study 5) Those who have had metal substances (heart pacemaker, nerve stimulator, cochlear implant, etc.) implanted in their body 6) Pregnant, lactating, or planning to become pregnant while participating in clinical research 7) Persons with a psychiatric disorder (anxiety disorder, claustrophobia, or other significant mental disorder) or a history of drug and alcohol abuse that may affect clinical research, according to the judgment of the researcher. 8) A person who is deemed inappropriate to participate in clinical research according to the judgment of the researcher.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluate the Safety and Potential Efficacy of Human Wharton's Jelly-derived Mesenchymal Stem Cells (EN001) in Patients With Charcot-Marie-Tooth Disease Type 1E
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral nerve disease that causes causes muscle atrophy, muscle weakness, sensory loss, balance disorder, gait disorder, blindness, hearing disorder, breathing disorder, vocal cord paralysis, foot deformity, scoliosis, and reflex dysfunction, More than 140 types of genes causing this disease are known. Charcot-Marie-Tooth (CMT) 1E, the target disease of this study, shows very severe symptoms compared to other Charcot-Marie-Tooth types. In cases of early onset, especially in children under 5 years of age, almost all patients are unable to walk without a wheelchair and have severe illness. Symptoms include scoliosis, breathing problems, vocal cord paralysis, foot deformity, loss of sensation and reflex function.
Additionally, more than 40% of Charcot-Marie-Tooth (CMT) 1E patients have hearing loss and become unable to live without hearing aids. Although this disease is very disabling, there is still no approved treatment.
Read more
To date, there is a lack of practical treatment or treatment support methods that can change the progression of hereditary motor and sensory neuropathy, so the focus is on pain control, use of assistive devices, and rehabilitation treatment, but the treatment effect is almost non-existent.
This study is conducted for the purpose of confirming the safety and exploratory treatment effect by administering EN001, an allogeneic umbilical cord-derived mesenchymal stem cell, once intravenously to patients with Charcot-Marie-Tooth (CMT) 1E.
EN001 is an allogeneic (alien-derived) umbilical cord-derived mesenchymal stem cell, and a phase 1 clinical trial of single intravenous administration was completed in 9 Charcot-Marie-Tooth (CMT) type 1A patients. Among the four adverse reactions that occurred in the participating research subjects, there were no adverse drug reactions related to EN001, and all four cases were mild and recovered. No serious adverse drug reactions or infusion reactions were observed in any study subjects, so this is a safe stem cell treatment.
Through efficacy tests and non-clinical tests, the effectiveness of improving behavior and increasing nerve and motor conduction speeds when administering the test drug to animal models of muscle disease was confirmed, so it is expected that this study can stabilize the disease progression in patients, and it will contribute to improving the quality of life and further promoting public health and welfare.
- Conditions
- Charcot-Marie-Tooth Disease, Type 1
- Being tested
- human Wharton's jelly-derived mesenchymal stem cells
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
human Wharton's jelly-derived mesenchymal stem cellsBiological
human Wharton's jelly-derived mesenchymal stem cells(product name: EN001)
| Study group | Role | What they receive |
|---|---|---|
| human Wharton's jelly-derived mesenchymal stem cells (EN001) | Experimental | * human Wharton's jelly-derived mesenchymal stem cells (EN001) dose of administration: 2.5x106 cells/kg
* method of adminstration: one-time, intravenous administration Receives: Biological: human Wharton's jelly-derived mesenchymal stem cells |
What is being measured
The primary outcome is the main question the study is designed to answer.
Infusion-related reaction
Check Fever, high blood pressure, low blood pressure, tachycardia, hyperventilation, rash, shock-related reactions related to administration
Measured: up to 12month
Secondary outcomes (1)
Confirmation of exploratory treatment effect of jelly-derived mesenchymal stem cells(EN001)
Charcot-Marie-Tooth disease 1E disease scale: CMTNS(Charcot-Marie-Tooth Neuropathy Score version 2), Lower values indicate better clinical conditions.
Measured: up to 12month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Jan 2024
- Study start23 May 2024
- Primary completion28 Oct 2024
- Study completion28 Oct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth Disease, Type 1Studies of the same condition, open and under way.
- More trials run by Samsung Medical CenterThe 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 N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- Samsung Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Byung-Ok Choi, Samsung Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06218134
- Sponsor's protocol ID
- SMC 2023-10-148
- Status last verified
- Dec 2025
- First submitted
- 19 Dec 2023
- Last updated
- 24 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluate the Safety and Potential Efficacy of Human Wharton's Jelly-derived Mesenchymal Stem Cells (EN001) in Patients With Charcot-Marie-Tooth Disease Type 1E
- ClinicalTrials.gov ID
- NCT06218134
- Acronym / sponsor ID
- SMC 2023-10-148
- Conditions
- Charcot-Marie-Tooth Disease, Type 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 3 participants (actual)
- Lead sponsor
- Samsung Medical CenterUniversity, hospital or other
- Study start
- 23 May 2024 (actual)
- Primary completion
- 28 Oct 2024 (actual)
- Study completion
- 28 Oct 2024 (actual)
- First posted
- 23 Jan 2024 (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.
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral nerve disease that causes causes muscle atrophy, muscle weakness, sensory loss, balance disorder, gait disorder, blindness, hearing disorder, breathing disorder, vocal cord paralysis, foot deformity, scoliosis, and reflex dysfunction, More than 140 types of genes causing this disease are known. Charcot-Marie-Tooth (CMT) 1E, the target disease of this study, shows very severe symptoms compared to other Charcot-Marie-Tooth types. In cases of early onset, especially in children under 5 years of age, almost all patients are unable to walk without a wheelchair and have severe illness. Symptoms include scoliosis, breathing problems, vocal cord paralysis, foot deformity, loss of sensation and reflex function.
Additionally, more than 40% of Charcot-Marie-Tooth (CMT) 1E patients have hearing loss and become unable to live without hearing aids. Although this disease is very disabling, there is still no approved treatment.
To date, there is a lack of practical treatment or treatment support methods that can change the progression of hereditary motor and sensory neuropathy, so the focus is on pain control, use of assistive devices, and rehabilitation treatment, but the treatment effect is almost non-existent.
This study is conducted for the purpose of confirming the safety and exploratory treatment effect by administering EN001, an allogeneic umbilical cord-derived mesenchymal stem cell, once intravenously to patients with Charcot-Marie-Tooth (CMT) 1E.
EN001 is an allogeneic (alien-derived) umbilical cord-derived mesenchymal stem cell, and a phase 1 clinical trial of single intravenous administration was completed in 9 Charcot-Marie-Tooth (CMT) type 1A patients. Among the four adverse reactions that occurred in the participating research subjects, there were no adverse drug reactions related to EN001, and all four cases were mild and recovered. No serious adverse drug reactions or infusion reactions were observed in any study subjects, so this is a safe stem cell treatment.
Through efficacy tests and non-clinical tests, the effectiveness of improving behavior and increasing nerve and motor conduction speeds when administering the test drug to animal models of muscle disease was confirmed, so it is expected that this study can stabilize the disease progression in patients, and it will contribute to improving the quality of life and further promoting public health and welfare.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| human Wharton's jelly-derived mesenchymal stem cells (EN001) | Experimental | Biological: human Wharton's jelly-derived mesenchymal stem cells* human Wharton's jelly-derived mesenchymal stem cells (EN001) dose of administration: 2.5x106 cells/kg * method of adminstration: one-time, intravenous administration |
Who may qualify
- Ages
- 19 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (12 listed)
- Those who voluntarily agreed to participate in this clinical study
- Men and women over 19 years of age as of the date of written consent
- Those who meet all of the following genetic and clinical diagnostic criteria
- Women or men of childbearing potential who agreed to use the appropriate contraceptive method suggested in the protocol during the clinical study period.
Key exclusion criteria (27 listed)
- Those with the following comorbidities confirmed at the time of screening (1) Those who have a neuromuscular disease other than CMT1E or a neuropathy- causing factor (uremia) that may affect the safety and treatment effect of this clinical study, according to the judgment of the researcher. (2) Those diagnosed with type 1 or type 2 diabetes (3) Those diagnosed with active pulmonary tuberculosis (4) Patients with uncontrolled hypertension (systolic blood pressure over 180 mmHg or diastolic blood pressure over 110 mmHg) (5) Persons with other clinically significant diseases, including significant heart, lung, liver, kidney, hematological, immunological or behavioral diseases or malignant tumors, according to the judgment of the researcher. (6) Those who show the following test abnormalities in clinical laboratory tests at the time of screening
- ⑤ Serum virus test (HBsAg, anti-HBc, anti-HCV, Positive for any one of HIV Ag/Ab)
- Medical history and surgical history
- <!-- -->
- Those who have undergone orthopedic surgery (bone or ligament correction, artificial joint implantation, osteotomy, arthroscopic surgery) on the lower extremities within 24 weeks before screening
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 |
|---|---|---|
| human Wharton's jelly-derived mesenchymal stem cellshuman Wharton's jelly-derived mesenchymal stem cells(product name: EN001) | Biological | human Wharton's jelly-derived mesenchymal stem cells (EN001) |
Primary outcome
Infusion-related reaction
Time frame: up to 12month
Check Fever, high blood pressure, low blood pressure, tachycardia, hyperventilation, rash, shock-related reactions related to administration
1 secondary outcome
Confirmation of exploratory treatment effect of jelly-derived mesenchymal stem cells(EN001)
Time frame: up to 12month
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Dec 2025.
- Individual participant dataSharing planned: No
Related trials for Charcot-Marie-Tooth Disease, Type 1
RecruitingObservational study
Studying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP
Charcot-Marie-Tooth, CMT1A
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder
RecruitingPhase 1/2
Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
Charcot-Marie-Tooth Disease Type 4J
Active, not recruitingPhase 2/3
ChariotMS - Cladribine to Halt Deterioration in People With Advanced Multiple Sclerosis
Advanced Multiple Sclerosis, Progressive Multiple Sclerosis
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 study testing human Wharton's jelly-derived mesenchymal stem cells in people with Charcot-Marie-Tooth Disease, Type 1, run by Samsung Medical Center at 1 site in South Korea.
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 12 inclusion and 27 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: finished, as of the sponsor's last update on 24 Dec 2025. 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 South Korea. 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.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Infusion-related reaction (time frame: up to 12month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 24 Dec 2025.