Functional Recovery in Severe Genetic Syndromes: Clinical Experience of Cell Therapy in Angelman Syndrome

Genetic pathologies remain a major challenge in modern medicine, although medical technologies, laboratory diagnostics, and targeted therapy tools have significantly developed and expanded. Since etiopathogenetic therapy is not provided, children with genetic disorders receive only symptomatic treatment stabilizing their status and mitigating life-threatening factors, but not contributing to even a partially functional recovery of damaged organs. Angelman syndrome is a rare and severe genetic pathology characterized by delayed psychomotor development, seizures, and conduct disorders. Patients with this diagnosis have, in general, a poor prognosis for development and socialization. Stem cell transplantation is a promising approach to treating various genetic, neurodegenerative, and autoimmune diseases. The article describes two clinical cases of patients with verified Angelman syndrome who received a combination therapy with stem cell transplantation as a key method. Health outcomes were analyzed using the data of physical examination, assessment of neurological and psychological statuses, testing methods of neuroimaging and functional medicine, and laboratory testing of hormonal, mitochondrial, immune states of patients. The results showed a significant improvement in patients’ psychomotor development and a positive dynamic in laboratory and functional indicators. Therefore, the studied combination therapy approach could become a promising method for treating patients with severe genetic diseases accompanied by serious nervous system damage.

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