A real-world, multicentre, epidemiological study in Czech and
Slovak adults with spinal muscular atrophy treated with
risdiplam

J 2026

A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam

PARMOVÁ, Olesja; Krystof PRASIL; Lenka MOKRA; Michal SVOBODA; Petr RIDZON et al.

Základní údaje

Originální název

A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam

Autoři

PARMOVÁ, Olesja; Krystof PRASIL; Lenka MOKRA; Michal SVOBODA; Petr RIDZON; Jana JUNKEROVA; Lucia BAKOŠOVÁ; Katarina OKALOVA; Lenka JUŘÍKOVÁ; Miriam KOLNIKOVA a Jana HABERLOVA

Vydání

Scientific Reports, Berlin, NATURE RESEARCH, 2026, 2045-2322

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30210 Clinical neurology

Stát vydavatele

Německo

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.900 v roce 2024

Označené pro přenos do RIV

Ano

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Spinal muscular atrophy; Adults; Risdiplam; Real-world data

Štítky

14110320, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 7. 4. 2026 13:50, Mgr. Tereza Miškechová

Anotace

V originále

Real-world evidence about risdiplam therapy in adults with 5q spinal muscular atrophy (SMA) remains limited to outcomes in small cohorts, heterogeneous endpoints, and a short follow-up. We collected data of 59 adults with genetically confirmed 5q-SMA treated with risdiplam and analysed RULM, HFMSE, FVC % predicted, and ventilation status at baseline and at Month 6, 12, 24, and up to 36. The cohort comprised 59 adults (median age 28.5 years, range 17.0-59.2; 57.6% type 2, 33.9% type 3, and 8.5% type 1; 90.6% wheelchair users). During the follow-up period no patient lost motor function. RULM improved during the first 6 months and remained stable through 24-36 months. Over the follow-up, HFMSE showed a non-significant mean monthly increase of 0.05 points (P = 0.222), and RULM increased by 0.02 points per month (P = 0.079). No patient initiated ventilation during follow-up and forced vital capacity remained stable. In our adult population, including Type 1 survivors, risdiplam was associated with sustained upper-limb improvement, overall motor stability over 3 years, and a favourable respiratory trajectory without ventilation. Our findings indicate that stabilisation is a clinically meaningful target in advanced adult SMA patients.

Citovat

PARMOVÁ, Olesja; Krystof PRASIL; Lenka MOKRA; Michal SVOBODA; Petr RIDZON; Jana JUNKEROVA; Lucia BAKOŠOVÁ; Katarina OKALOVA; Lenka JUŘÍKOVÁ; Miriam KOLNIKOVA a Jana HABERLOVA. A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam. Scientific Reports. Berlin: NATURE RESEARCH, 2026, roč. 16, č. 1, s. 1-10. ISSN 2045-2322. Dostupné z: https://doi.org/10.1038/s41598-026-37462-6.

@article{2565356,
   author = {Parmová, Olesja and Prasil, Krystof and Mokra, Lenka and Svoboda, Michal and Ridzon, Petr and Junkerova, Jana and Bakošová, Lucia and Okalova, Katarina and Juříková, Lenka and Kolnikova, Miriam and Haberlova, Jana},
   article_location = {Berlin},
   article_number = {1},
   doi = {https://doi.org/10.1038/s41598-026-37462-6},
   keywords = {Spinal muscular atrophy; Adults; Risdiplam; Real-world data},
   language = {eng},
   issn = {2045-2322},
   journal = {Scientific Reports},
   title = {A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam},
   url = {https://www.nature.com/articles/s41598-026-37462-6},
   volume = {16},
   year = {2026}
}

TY  - JOUR
ID  - 2565356
AU  - Parmová, Olesja - Prasil, Krystof - Mokra, Lenka - Svoboda, Michal - Ridzon, Petr - Junkerova, Jana - Bakošová, Lucia - Okalova, Katarina - Juříková, Lenka - Kolnikova, Miriam - Haberlova, Jana
PY  - 2026
TI  - A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam
JF  - Scientific Reports
VL  - 16
IS  - 1
SP  - 1-10
EP  - 1-10
PB  - NATURE RESEARCH
SN  - 20452322
KW  - Spinal muscular atrophy
KW  - Adults
KW  - Risdiplam
KW  - Real-world data
UR  - https://www.nature.com/articles/s41598-026-37462-6
N2  - Real-world evidence about risdiplam therapy in adults with 5q spinal muscular atrophy (SMA) remains limited to outcomes in small cohorts, heterogeneous endpoints, and a short follow-up. We collected data of 59 adults with genetically confirmed 5q-SMA treated with risdiplam and analysed RULM, HFMSE, FVC % predicted, and ventilation status at baseline and at Month 6, 12, 24, and up to 36. The cohort comprised 59 adults (median age 28.5 years, range 17.0-59.2; 57.6% type 2, 33.9% type 3, and 8.5% type 1; 90.6% wheelchair users). During the follow-up period no patient lost motor function. RULM improved during the first 6 months and remained stable through 24-36 months. Over the follow-up, HFMSE showed a non-significant mean monthly increase of 0.05 points (P = 0.222), and RULM increased by 0.02 points per month (P = 0.079). No patient initiated ventilation during follow-up and forced vital capacity remained stable. In our adult population, including Type 1 survivors, risdiplam was associated with sustained upper-limb improvement, overall motor stability over 3 years, and a favourable respiratory trajectory without ventilation. Our findings indicate that stabilisation is a clinically meaningful target in advanced adult SMA patients.
ER  -

PARMOVÁ, Olesja; Krystof PRASIL; Lenka MOKRA; Michal SVOBODA; Petr RIDZON; Jana JUNKEROVA; Lucia BAKOŠOVÁ; Katarina OKALOVA; Lenka JUŘÍKOVÁ; Miriam KOLNIKOVA a Jana HABERLOVA. A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam. \textit{Scientific Reports}. Berlin: NATURE RESEARCH, 2026, roč.~16, č.~1, s.~1-10. ISSN~2045-2322. Dostupné z: https://doi.org/10.1038/s41598-026-37462-6.

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