Browsing by Author "Dr. Jakus Rita"

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    Kezdeti tapasztalataink spinalis muscularis atrophiában szenvedő gyermekek intravénás génterápiájával
    (2020) Dr. Mikos Borbála; Dr. Gergely Anita; Dr. Balázsfi Réka; Dr. Bányász Edina; Dr. Gyömörei Beáta; Dr. Hantos Mónika; Dr. Czelecz Judit; Dr. Jakus Rita; Dr. Kárász Hajnalka; Dr. Zilahy Mónika; Dr. Molnár Eszter; Dr. Paraicz Éva; Dr. Csohány Ágnes; Dr. Szénási Fanni; Dr. Vendégh Lejla; Dr. Fogarasi András; Dr. Velkey György János
    Congenital spinal muscular atrophy is a rare, progressive neurodegenerative disease, one of the major genetic causes of childhood death. The possibilities of medicine to curb its progression and to delay and mat the disease's complications were limited before the 21st century. Therefore, children with the most severe genetic defects were usually lost before their second birthday. Advances in genetic diagnostics allow for early diagnosis, prediction of severity and expected progression. Using intrathecal nusinersen (available in Hungary since 2018), clinical results based on a large number of patients are convincing. Experience with the new intravenous gene therapy (onasemnogene abeparvovec) available from 2019 is still based on a less number of patients. It was used in Hungary in Bethesda Hospital in five children based on strict professional criteria and preparations. Our paper summarizes the most important efficacy and safety data of the first three consecutive patients. According to our experiences, the product helps to improve movement performance. Side effects are mainly reversible elevations of liver enzymes and serum troponin-I levels, thrombocytopenia and granulocytopenia. Therefore, we found that it is important to monitor patients closely on a long-term basis in order to detect and eliminate side effects early.
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    Onasemnogene Abeparvovec Therapy Following Nusinersen Treatment in Eight Patients with Spinal Muscular Atrophy Type 1
    (2021) Dr. Mikos Borbála; Szénási Fanni; Bodó Tímea; Gergely Anita; Dr. Jakus Rita; Vendégh Lejla; Orosz Miklós; Gyömörei Beáta; Hantos Mónika; Celecz Judit; Dr. Velkey György János; Fogarasi András
    Introduction: Innovative gene-modifying therapy can improve motor achievements of patients with spinal muscular atrophy (SMA). Onasemnogene abeparvovec (OAV101) is an adeno-associated viral vector gene therapy that introduces a functional copy of the SMN1 gene, which produces SMA protein that is essential for normal motor neuron function. Aim: To report our single-center clinical experience using OAV101 in patients with SMA Type 1 previously treated with nusinersen. Methods: Between October 2019 and September 2020, eight patients (aged 3-23 months) with SMA Type 1 were administered a single intravenous infusion of OAV101, individualized according to bodyweight (1.1 x 1014 vg/kg), and prophylactic immunosuppression. Change in motor function achievements was assessed using Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scores. Laboratory parameters, including liver enzymes and troponin were monitored. Results: OAV101 improved motor function in all eight patients. The average increase in CHOP INTEND scores were 11.14 points (range 3-21 points) 10 weeks after OAV101, with the highest score of 21 points in a child aged 13 weeks. The weekly increase in CHOP INTEND score following OAV101 was 1.11 points, 2.5-fold higher than that achieved with prior nusinersen treatment (0.42 points) (p=0.69; paired t-probe). Any increase in laboratory parameters occurred early after OAV101 and typically resolved to normal levels. Noninvasive ventilation use was decreased in two patients. Conclusion: OAV101 improved motor function in patients with SMA aged 3 23 months, with a manageable safety profile. Our report contributes real-world evidence of OAV101 treatment for SMA.