AUTHOR=Siwek Tomasz , Zwiernik Beata , Jezierska-Woźniak Katarzyna , Jezierska Kamila , Mycko Marcin P. , Selmaj Krzysztof W. 

TITLE=Intrathecal administration of mesenchymal stem cells in patients with adrenomyeloneuropathy

JOURNAL=Frontiers in Neurology

VOLUME=Volume 15 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1345503

DOI=10.3389/fneur.2024.1345503

ISSN=1664-2295

ABSTRACT=Background and Objectives: X-linked adrenomyeloneuropathy (AMN) is an inherited neurodegenerative disorder associated with mutations in the ABCD1 gene and accumulation of very long-chain fatty acids (VLFCA) in plasma and tissues. Currently there is no effective treatment for AMN. We have aimed to evaluate therapeutics effects of mesenchymal stem cell (MSC) transplantation in patients with AMN. Methods: This is a small cohort open label study with patients with AMN diagnosed and treated in University Hospital in Olsztyn Poland. All patients met clinical, biochemical, MRI and neuropsychological criteria for AMN. MSC derived from Wharton jelly, 20x10 6 cells, were administrated intrathecally 3 times every two months and patients were followed up for additional 3 months. The primary outcome measures included blinded assessment of lower limbs muscle strength with Medical Research Council Manual Muscle Testing scale at baseline and on every month visits till the end of study.. Additional outcomes included measurements of Timed 25 feet walk (T25FW) and VLFCA serum ratio. Results: Three male patients with AMN with age 26-37 years participated in this study. All patients experienced increased muscle strength of lower limbs at the end of study versus baseline. The power grade increased by 25 to 43% versus baseline. In addition all patients showed improvement trend in walking speed measured with T25FW test. Treatment with MSC in patients with AMN appeared to be safe and well tolerated. Discussion: The results of this study demonstrated that intrathecal administration of WJ-MSC improves motor symptoms in patients with AMN. The current findings lend support to the safety and feasibility of MSC therapy as a potentially viable treatment option for patients with AMN. Due to low number of participants this study fulfills criteria for class IV of the Classification of Evidence.