Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) 1/2/3 or with 1-4 SMN2 gene copies. For the preceding 12 months, this compassionate use...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
19 July 2022
|
| In: |
Orphanet journal of rare diseases
Year: 2022, Jahrgang: 17, Pages: 1-10 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-022-02420-8 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-022-02420-8
|
| Verfasserangaben: | Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer, Tim Hagenacker and the Risdiplam Compassionate Use Program Group |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1824016921 | ||
| 003 | DE-627 | ||
| 005 | 20240326080324.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 221130s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s13023-022-02420-8 |2 doi | |
| 035 | |a (DE-627)1824016921 | ||
| 035 | |a (DE-599)KXP1824016921 | ||
| 035 | |a (OCoLC)1361670433 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Hahn, Andreas |e VerfasserIn |0 (DE-588)1209980223 |0 (DE-627)1698053320 |4 aut | |
| 245 | 1 | 0 | |a Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany |c Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer, Tim Hagenacker and the Risdiplam Compassionate Use Program Group |
| 264 | 1 | |c 19 July 2022 | |
| 300 | |a 10 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 30.11.2022 | ||
| 520 | |a The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) 1/2/3 or with 1-4 SMN2 gene copies. For the preceding 12 months, this compassionate use program (CUP) made risdiplam available to patients with SMA1/2 in Germany who could not receive any approved SMA therapy. | ||
| 650 | 4 | |a Compassionate use | |
| 650 | 4 | |a Real-world data | |
| 650 | 4 | |a Risdiplam | |
| 650 | 4 | |a Spinal muscular atrophy | |
| 650 | 4 | |a Splicing modifier | |
| 650 | 4 | |a Survival of motor neuron 1 protein | |
| 700 | 1 | |a Thiemer, René |d 1984- |e VerfasserIn |0 (DE-588)1137385421 |0 (DE-627)894574051 |0 (DE-576)491301944 |4 aut | |
| 700 | 1 | |a Ludolph, Albert C. |d 1953- |e VerfasserIn |0 (DE-588)1081317531 |0 (DE-627)845970100 |0 (DE-576)454116195 |4 aut | |
| 700 | 1 | |a Schwartz, Oliver |e VerfasserIn |4 aut | |
| 700 | 1 | |a Trollmann, Regina |e VerfasserIn |0 (DE-588)1031171320 |0 (DE-627)735780528 |0 (DE-576)378601091 |4 aut | |
| 700 | 1 | |a Weydt, Patrick |d 1970- |e VerfasserIn |0 (DE-588)122170334 |0 (DE-627)705798844 |0 (DE-576)293130493 |4 aut | |
| 700 | 1 | |a Weiler, Markus |d 1972- |e VerfasserIn |0 (DE-588)123920256 |0 (DE-627)706474236 |0 (DE-576)293943079 |4 aut | |
| 700 | 1 | |a Mellert, Kathrin Gertrud |d 1982- |e VerfasserIn |0 (DE-588)1106864166 |0 (DE-627)863208606 |0 (DE-576)473855720 |4 aut | |
| 700 | 1 | |a Schwaderer, Martin Sebastian |e VerfasserIn |0 (DE-588)1200683463 |0 (DE-627)1683844459 |4 aut | |
| 700 | 1 | |a Hagenacker, Tim |d 1981- |e VerfasserIn |0 (DE-588)138906262 |0 (DE-627)606725563 |0 (DE-576)30953075X |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Orphanet journal of rare diseases |d London : BioMed Central, 2006 |g 17(2022), Artikel-ID 276, Seite 1-10 |h Online-Ressource |w (DE-627)50900637X |w (DE-600)2225857-7 |w (DE-576)260614424 |x 1750-1172 |7 nnas |a Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany |
| 773 | 1 | 8 | |g volume:17 |g year:2022 |g elocationid:276 |g pages:1-10 |g extent:10 |a Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany |
| 787 | 0 | 8 | |i Ergänzung |a Hahn, Andreas |t Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany |d 2022 |w (DE-627)182386659X |
| 856 | 4 | 0 | |u https://doi.org/10.1186/s13023-022-02420-8 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20221130 | ||
| 993 | |a Article | ||
| 994 | |a 2022 | ||
| 998 | |g 123920256 |a Weiler, Markus |m 123920256:Weiler, Markus |d 910000 |d 911100 |d 50000 |e 910000PW123920256 |e 911100PW123920256 |e 50000PW123920256 |k 0/910000/ |k 1/910000/911100/ |k 0/50000/ |p 7 | ||
| 999 | |a KXP-PPN1824016921 |e 4222099309 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"recId":"1824016921","physDesc":[{"extent":"10 S."}],"person":[{"role":"aut","given":"Andreas","family":"Hahn","display":"Hahn, Andreas"},{"family":"Thiemer","given":"René","role":"aut","display":"Thiemer, René"},{"display":"Ludolph, Albert C.","family":"Ludolph","given":"Albert C.","role":"aut"},{"family":"Schwartz","given":"Oliver","role":"aut","display":"Schwartz, Oliver"},{"display":"Trollmann, Regina","given":"Regina","role":"aut","family":"Trollmann"},{"display":"Weydt, Patrick","role":"aut","given":"Patrick","family":"Weydt"},{"role":"aut","given":"Markus","family":"Weiler","display":"Weiler, Markus"},{"family":"Mellert","given":"Kathrin Gertrud","role":"aut","display":"Mellert, Kathrin Gertrud"},{"family":"Schwaderer","role":"aut","given":"Martin Sebastian","display":"Schwaderer, Martin Sebastian"},{"display":"Hagenacker, Tim","family":"Hagenacker","given":"Tim","role":"aut"}],"relHost":[{"disp":"Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in GermanyOrphanet journal of rare diseases","recId":"50900637X","physDesc":[{"extent":"Online-Ressource"}],"id":{"zdb":["2225857-7"],"issn":["1750-1172"],"eki":["50900637X"]},"title":[{"subtitle":"OJRD","title_sort":"Orphanet journal of rare diseases","title":"Orphanet journal of rare diseases"}],"part":{"text":"17(2022), Artikel-ID 276, Seite 1-10","volume":"17","extent":"10","pages":"1-10","year":"2022"},"type":{"bibl":"periodical","media":"Online-Ressource"},"language":["eng"],"note":["Gesehen am 01.09.10"],"origin":[{"publisher":"BioMed Central","dateIssuedKey":"2006","dateIssuedDisp":"2006-","publisherPlace":"London"}],"pubHistory":["1.2006 -"]}],"origin":[{"dateIssuedKey":"2022","dateIssuedDisp":"19 July 2022"}],"title":[{"title_sort":"Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany","title":"Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany"}],"note":["Gesehen am 30.11.2022"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"language":["eng"],"name":{"displayForm":["Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer, Tim Hagenacker and the Risdiplam Compassionate Use Program Group"]},"id":{"eki":["1824016921"],"doi":["10.1186/s13023-022-02420-8"]}} | ||
| SRT | |a HAHNANDREASHORTTERMS1920 | ||