Terapie genowe i genetyczne w chorobach nerwowo- mięśniowych wieku dziecięcego

Jączak-Goździak, Małgorzata; Steinborn, Barbara

doi:10.20966/chn.2020.58.453

Cited by 1 publication

(1 citation statement)

References 20 publications

(98 reference statements)

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“…Lek ten podawany jest dożylnie, w jednorazowej dawce. Jest to możliwe ze względu na zdolność motoneuronów do długiego okresu przeżycia oraz brak możliwości podziału tych komórek [18]. Innowacyjna farmakoterapia SMA zmieniła rokowanie chorych.…”

Section: Mechanizm Działania Lekówunclassified

Spinal muscular atrophy – the effectiveness of treatment and new therapeutic possibilities for selected groups of patients in Poland

Kozon¹,

Krzyżanowska²,

Olszewski³

et al. 2023

pps

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Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disorder caused by a genetic mutation in the Survival of motor neuron 1 (SMN1) gene, which is responsible for the production of a protein essential to motor neurons’ survival. Insufficient levels of the SMN protein lead to the loss of motor neurons in the spinal cord, which manifests in progressive muscle wasting. Due to the absence of an effective treatment in the early years, the disease was taking its toll with the respiratory problems being the primary cause of death. Currently, there are multiple approved treatments for SMA, which help to manage the symptoms and to prevent complications, such as nusinersen, risdiplam, and onasemnogene abeparovec. In Poland, nusinersen treatment has been offered free of charge by the public health service since 2019. It wasn’t until September 2022 that the reimbursement procedure included the other two drugs. The recently published studies on the nusinersen treatment in Poland showed stabilization or slowdown in the progression of symptoms in all patients. In March 2022, Poland implemented an SMA screening program for newborns, which aimed to detect this fatal and disabling disease before the infant displayed any SMA symptoms. The program resulted so far in early diagnosis and intervention providing a better prognosis for patients. Combination of newborn screening and the drug reimbursement program has significantly increased the chances of SMA patients for effective treatment.

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Section: Mechanizm Działania Lekówunclassified