Umbilical Cord Stem Cell Therapy for Charcot-Marie-Tooth Disease to Begin Phase 2 Trial

Key details

• New trial approval: The South Korean Ministry of Food and Drug Safety has approved a Phase 2a trial for a new umbilical cord stem cell therapy to treat Charcot-Marie-Tooth disease (CMT), one of the most commonly inherited nerve diseases.[1]
• Promising phase 1 data: In early trials, patients treated with these stem cells showed significant reductions in disease severity and improvements in gait and balance without serious adverse effects.
• Orphan drug status: The FDA has granted orphan drug designation to this treatment, highlighting its potential value for rare diseases.
• Future availability: The developer of the therapy, ENCell, aims for early commercialisation following the completion of the Phase 2 trial.

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause damage to the nerves in the arms and legs. It affects both the nerves that control movement (motor nerves) and those that transmit sensations (sensory nerves).[2][3][4]

As one of the most common types of inherited nerve diseases, CMT can be caused by mutations in a wide variety of genes. Depending on the faulty gene, CMT damages either:

• The myelin sheath, which is the nerves’ protective coat.
• The axons, which are the nerve fibres themselves.

Both forms of damage significantly impair nerve function.[5][6]

As an inherited condition, CMT runs through families. Most forms of CMT, including CMT1, the main form affecting the myelin sheath and the most common,[6] are inherited in an autosomal dominant pattern. This means someone only needs to get one copy of a faulty gene from one of their parents to develop the condition; inheritance is not connected to the two sex chromosomes, so males and females have equal chances of inheriting the condition. Occasionally, CMT will develop in someone whose family has no prior history, something known as a de novo mutation.[7][8]

CMT is a progressive condition, meaning symptoms can be subtle at first but will get progressively worse over time. Common symptoms include:

• Mobility issues: difficulty walking, foot drop (trouble lifting the foot at the ankle), and balance issues.
• Deformities: highly arched or very flat feet, curled toes, and muscle atrophy (shrinking) in the lower legs.
• Chronic pain: the strain on the body caused by the problems with walking and posture often leads to muscle and joint pain.
• Hand issues: as CMT advances, it can begin affecting the hands and arms as well, leading to reduced hand dexterity and strength, which can make daily tasks more difficult.[4][9]

There is currently no cure for CMT. Treatment is limited to supportive care and symptom management, including physiotherapy, occupational therapy, orthopaedic devices to support weakened limbs, walking aids such as walkers or wheelchairs, pain medication, and surgery to correct deformities.[3][10][11]

How can umbilical cord stem cells help treat CMT?

The stem cell therapy being trialled for CMT is based on mesenchymal stem cells (MSCs) derived from the Wharton’s jelly found in umbilical cord tissue.[12] Wharton’s jelly is a rich source of powerful MSCs, which, due to their young age, multiply more effectively than MSCs derived from adult tissues such as the bone marrow or fat. They can reduce inflammation, modulate the immune system, and promote healing and regeneration.[13][14]

The therapeutic mechanism involves:

• Schwann cell support: In laboratory experiments, induced pluripotent stem cells from CMT1 patients were turned into Schwann cells, which are the cells responsible for forming the myelin sheath. Then, the Schwann cells were cultured together with WJ-MSCs, to test whether the latter would have any effect on the former. The results were very positive, showing that WJ-MSCs significantly improve Schwann cells’ ability to multiply.
• Myelin repair: In mouse models of CMT, mice treated with WJ-MSCs had thicker myelin sheaths and a higher percentage of myelinated neurons compared to control mice.
• Functional improvements: CMT mice treated with WJ-MSCs also showed improved grip strength and ability to walk.[15]

What do the results of the phase 1 trial for CMT show?

Data from the first-in-human, phase 1 trial of the umbilical cord stem cell therapy for CMT indicates that the treatment is both safe and potentially effective. A total of nine patients received the treatment, three at a low dose and six at a high dose. Results were promising:

• Safety profile: No serious adverse events, toxicity, or reactions to the treatment were recorded.
• Symptom reduction: Patients’ score on the Charcot-Marie-Tooth Neuropathy Score version 2 scale, which is used to gauge CMT severity, decreased by an average of 2.89 points after 16 weeks. The high-dose group saw a more marked reduction of 3.50 points.
• Functional improvements: Patients’ gait, balance, and walking speed also improved.[16]

Following these results, the treatment received an orphan drug designation from the FDA in the in the United States.[17] A phase 1b trial testing multiple doses was already underway when the request for a phase 2 trial was placed and approved;[17][18] the newly combined phase 1b/2a trial aims to further test the treatment against a placebo to confirm its efficacy.[19]

If successful, the treatment would be the first MSC therapy for CMT in the world. ENCell, the company developing the treatment, has said it is aiming for early commercialisation and hopes to bring it to patients as soon as possible after the phase 2 trial is complete.[1] The same therapy is also being investigated for other conditions similar to CMT, including Duchenne muscular dystrophy.[20]

Why is stem cell banking so important?

Stem cell banking ensures that a child has access to their own perfectly matched stem cells, which may be critical for future regenerative therapies.

Much of the research going into stem cells could come to fruition within your baby’s lifetime, providing a cure for illnesses that are currently considered incurable. As development and research are still ongoing, different types and sources of stem cells are being trialled for effectiveness and could turn out to be the key to a specific treatment. This could have an impact on what treatments are available to your baby in the future; the more cell sources and types they have available, the greater their chances of accessing these treatments.

To learn more about stem cells from the umbilical cord and how you could preserve them for your baby’s potential future use, fill in the form below to request your free welcome pack.

References

[1] CHOSUNBIZ (2025). ENCell advances stem cell therapy for Charcot–Marie–Tooth with phase 2a approval. https://biz.chosun.com/en/en-science/2025/11/17/FC2IA63O6NGQTIE6YWPLAQDSW4/

[2] NHS (2019). Charcot-Marie-Tooth disease. https://www.nhs.uk/conditions/charcot-marie-tooth-disease/

[3] Johns Hopkins Medicine. Charcot-Marie-Tooth Disease. https://www.hopkinsmedicine.org/health/conditions-and-diseases/charcotmarietooth-disease

[4] Mayo Clinic (2023). Charcot-Marie-Tooth disease – Symptoms and causes. https://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/symptoms-causes/syc-20350517

[5] Charcot-Marie-Tooth Association (2025). What Is CMT? https://cmtausa.org/understanding-cmt/what-is-cmt/

[6] NHS (2019). Charcot-Marie-Tooth disease – Causes. https://www.nhs.uk/conditions/charcot-marie-tooth-disease/causes/

[7] CMTUK. (2025). About CMT. https://www.cmt.org.uk/about-cmt/

[8] Charcot-Marie-Tooth Association (2025). Inheritance of Charcot-Marie-Tooth Disease (CMT). https://cmtausa.org/cmt-inheritance/

[9] NHS (2020). Charcot-Marie-Tooth disease – Symptoms. https://www.nhs.uk/conditions/charcot-marie-tooth-disease/symptoms/

[10] NHS (2019). Charcot-Marie-Tooth disease – Treatment. https://www.nhs.uk/conditions/charcot-marie-tooth-disease/treatment/

[11] Cleveland Clinic (2022). Charcot-Marie-Tooth Disease (CMT): Symptoms & Treatment. https://my.clevelandclinic.org/health/diseases/6009-charcot-marie-tooth-disease-cmt

[12] ENCell. Pipeline. https://www.encellinc.com/en/sub/rnd/pipeline.asp

[13] Kim, D.-W., et al. (2013). Wharton’s Jelly-Derived Mesenchymal Stem Cells: Phenotypic Characterization and Optimizing Their Therapeutic Potential for Clinical Applications. International Journal of Molecular Sciences, 14(6), pp.11692–11712. doi:https://doi.org/10.3390/ijms140611692

[14] Drobiova, H., et al. (2023). Wharton’s jelly mesenchymal stem cells: a concise review of their secretome and prospective clinical applications. Frontiers in Cell and Developmental Biology, 11. doi:https://doi.org/10.3389/fcell.2023.1211217

[15] Oh, S.J., et al. (2024). Synergistic effect of Wharton’s jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment. Neurobiology of disease, 203, p.106725. doi:https://doi.org/10.1016/j.nbd.2024.106725

[16] Newswire (2024). ENCell Presents the Phase 1 Clinical Trial Results of EN001 for Charcot-Marie-Tooth Disease at the PNS conference. https://www.newswire.co.kr/newsRead.php?no=992387

[17] Business Wire (2025). EnCell’s EN001 Receives Orphan Drug Designation from the U.S. FDA for Charcot-Marie-Tooth Disease. https://www.businesswire.com/news/home/20250306675394/en/ENCells-EN001-Receives-Orphan-Drug-Designation-from-the-U.S.-FDA-for-Charcot-Marie-Tooth-Disease

[18] Clinicaltrials.gov (2025). Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A. https://www.clinicaltrials.gov/study/NCT06328712

[19] Kyoung-Won, K. (2025). Korean-made stem cell therapy EN001 enters phase 2a trial for Charcot–Marie–Tooth disease. KBR. https://www.koreabiomed.com/news/articleView.html?idxno=29656

[20] Clinicaltrials.gov (2025). Evaluate the Efficacy and Safety of EN001 in Patients With Duchenne Muscular Dystrophy. https://www.clinicaltrials.gov/study/NCT06328725