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000276085 1001_ $$00000-0002-2736-7350$$aMeyer, Thomas$$b0
000276085 245__ $$aSOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.
000276085 260__ $$aAbingdon$$bTaylor Francis Group$$c2025
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000276085 520__ $$aTo report the frequency of pathogenic SOD1 gene variants in a screening program in amyotrophic lateral sclerosis (ALS), and the clinical practice of transition to an expanded access program (EAP) of tofersen treatment.From October 2021 to February 2024, at 11 ALS centers in Germany genetic testing for SOD1, FUS, TARDBP, and C9orf72 was performed. Patients were offered to opt for notification either about all genetic variants or SOD1 variants relevant for tofersen therapy. The transition to the EAP with tofersen was assessed.1935 patients were screened (94.7% sporadic ALS). 48.8% (n = 928) opted for notification of treatment-relevant information. Genetic variants were found as follows: SOD1 (likely) pathogenic variants (class 4/5) 1.8% (n = 34), variants of unknown significance (class 3) 0.8% (n = 16), FUS (class 4/5) 0.9% (n = 17), TARDBP (class 4/5) 1.3% (n = 25), C9orf72 hexanucleotide repeat expansion 7.0% (n = 135). In SOD1-ALS (encompassing class 3-5 variants, n = 50), 68.0% (n = 34) reported a negative family history. 74.0% (n = 37) of SOD1-ALS patients - which represent 1.9% of all participants of the screening program - were transitioned to tofersen. Median duration from start of genetic testing to treatment was 94 days (57 to 295 days). Eight patients declined treatment whereas five individuals died before initiation of therapy.The finding of SOD1 variants in patients with a negative family history underscores the need for a broad genetic screening in ALS. In SOD1-ALS, the treatment option with tofersen was mostly utilized. The wide range in the transition time to tofersen calls for a SOD1-ALS management program.
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000276085 650_7 $$2Other$$aAmyotrophic lateral sclerosis
000276085 650_7 $$2Other$$aSOD1 gene
000276085 650_7 $$2Other$$ascreening
000276085 650_7 $$2Other$$atofersen
000276085 650_7 $$2Other$$atransition
000276085 650_7 $$0EC 1.15.1.1$$2NLM Chemicals$$aSuperoxide Dismutase-1
000276085 650_7 $$2NLM Chemicals$$aSOD1 protein, human
000276085 650_7 $$2NLM Chemicals$$aC9orf72 Protein
000276085 650_7 $$2NLM Chemicals$$aTARDBP protein, human
000276085 650_7 $$2NLM Chemicals$$aC9orf72 protein, human
000276085 650_7 $$2NLM Chemicals$$aRNA-Binding Protein FUS
000276085 650_7 $$2NLM Chemicals$$aFUS protein, human
000276085 650_7 $$2NLM Chemicals$$aDNA-Binding Proteins
000276085 650_2 $$2MeSH$$aHumans
000276085 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000276085 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: drug therapy
000276085 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: diagnosis
000276085 650_2 $$2MeSH$$aSuperoxide Dismutase-1: genetics
000276085 650_2 $$2MeSH$$aMale
000276085 650_2 $$2MeSH$$aFemale
000276085 650_2 $$2MeSH$$aGenetic Testing: methods
000276085 650_2 $$2MeSH$$aMiddle Aged
000276085 650_2 $$2MeSH$$aMutation: genetics
000276085 650_2 $$2MeSH$$aAged
000276085 650_2 $$2MeSH$$aAdult
000276085 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000276085 650_2 $$2MeSH$$aGermany
000276085 650_2 $$2MeSH$$aRNA-Binding Protein FUS: genetics
000276085 650_2 $$2MeSH$$aDNA-Binding Proteins
000276085 7001_ $$aSchumann, Peggy$$b1
000276085 7001_ $$aGrehl, Torsten$$b2
000276085 7001_ $$aWeyen, Ute$$b3
000276085 7001_ $$aPetri, Susanne$$b4
000276085 7001_ $$aRödiger, Annekathrin$$b5
000276085 7001_ $$aSteinbach, Robert$$b6
000276085 7001_ $$aGrosskreutz, Julian$$b7
000276085 7001_ $$0P:(DE-2719)9000485$$aBernsen, Sarah$$b8
000276085 7001_ $$0P:(DE-2719)9001116$$aWeydt, Patrick$$b9$$udzne
000276085 7001_ $$aWolf, Joachim$$b10
000276085 7001_ $$0P:(DE-2719)2811849$$aGünther, René$$b11$$udzne
000276085 7001_ $$aVidovic, Maximilian$$b12
000276085 7001_ $$aBaum, Petra$$b13
000276085 7001_ $$aMetelmann, Moritz$$b14
000276085 7001_ $$aWeishaupt, Jochen H$$b15
000276085 7001_ $$aStreubel, Berthold$$b16
000276085 7001_ $$aKasper, David C$$b17
000276085 7001_ $$aKoc, Yasemin$$b18
000276085 7001_ $$aKettemann, Dagmar$$b19
000276085 7001_ $$aNorden, Jenny$$b20
000276085 7001_ $$aSchmitt, Philipp$$b21
000276085 7001_ $$aWalter, Bertram$$b22
000276085 7001_ $$aMünch, Christoph$$b23
000276085 7001_ $$aSpittel, Susanne$$b24
000276085 7001_ $$aMaier, André$$b25
000276085 7001_ $$0P:(DE-2719)2812030$$aKörtvelyessy, Peter$$b26$$udzne
000276085 773__ $$0PERI:(DE-600)2705061-0$$a10.1080/21678421.2024.2401131$$gVol. 26, no. 1-2, p. 162 - 171$$n1-2$$p162 - 171$$tAmyotrophic lateral sclerosis & frontotemporal degeneration$$v26$$x2167-8421$$y2025
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