Promising Results for Kearns-Sayre Syndrome of First in Man Treatment by Mitochondrial Augmentation Therapy (457)

• DOI: 10.1212/wnl.94.15_supplement.457
• Publication Date: 2023-12-07T05:28:50Z
• Authors: Omer Bar Yosef; Elad Jacoby; Noah Gruber; Nira Varda-Bloom; Einat Azaria; Etzyona Eisenstein; Sharon Barak; Jaana Ahonniska-Assa; Yair Anikster; Amos Toren
• Keywords: Kearns–Sayre syndrome; Mitochondrial disease

Objective: To test the efficacy of Mitochondrial Augmentation Therapy (MAT) to improve physiological and metabolic status a patient with Kearns-Sayre syndrome (KSS) Background: KSS is defined as progressive retinitis pigmentosa external ophthalmoplegia occurring at childhood due de-novo mtDNA deletions. Other systems may be involved over time including hearing, heart, central nervous system, skeletal muscles, endocrine glands kidneys. There no available treatment for KSS. Previous studies have shown that isolated mitochondria can re-enter cells transfer neighboring cells. MAT uses autologous CD34+ hematopoietic stem recipient enriched normal from his mother. compassionate treatments patients Pearson disease demonstrated positive results. Design/Methods: A 14 year old girl known deletion treated under IRB-approved use. Maternal (confirmed non-deleted) were harvested peripheral blood. Patient underwent leukapheresis positively selected augmented maternal prior infusion (2×10^6 cells/kg). The was followed clinical parameters 7 months after treatment. Results: marked improvement in her function months. At base line she weighed 19 kg, had only light/dark perception, could not sit, walk or express words 1–2 seizures week. Seven treatment, improved appetite gained 3.6 kg. She reach 2 cm2 objects, sit independently, an aid herself short sentences. Her resolved 4 normalized functional score on International Pediatric Disease Score 91% 57%. ATP content blood lymphocytes increased. Conclusions: has markedly neurological tests It promising start potential therapy Disclosure: Dr. Bar Yosef nothing disclose. Jacoby Gruber Varda-Bloom Azaria Eisenstein Barak Ahonniska-Assa Anikster Toren