Mutagenesis:Article Title: Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial.
Article Snippet: .. Drug (Sponsor) Disease Design Year N Center Myozyme (Genzyme) [29] Pompe disease Single- arm open- label vs. natural history controls 2006 18 CBER Zolgensma (Novartis/ AveXis) [48] Spinal muscular atrophy Single- arm open- label vs. natural history data 2019 36 CBER Nulibry (BridgeBio/Origin) [49] Molybdenum cofactor deficiency Type A Single- arm vs. genotypematched natural history 2021 13 treated vs. 18 controls CDER Skysona (Bluebird Bio) [50] Cerebral adrenoleukodystrophy Single- arm gene therapy vs. natural history 2022 32 CBER Zokinvy (Eiger) [51] Hutchinson- Gilford progeria syndrome Single- arm vs. historical untreated survival data 2020 62 CDER Qalsody (Biogen) [52] ALS with SOD1 mutation Single- arm with biomarker + natural history 2023 108 CDER Sohonos (palovarotene) [53] Fibrodysplasia ossificans progressiva Single- arm vs. natural history bone formation 2023 107 CDER TABLE 6 | Patient- as- Own- Control Design Successes (Baseline Comparison). .. Drug (Sponsor) Disease Design Year N Center Veopoz (Regeneron) [54] CHAPLE disease (CD55 deficiency) Single- arm, baseline comparison 2023 10 CDER Imcivree (Rhythm) [55, 56] POMC, PCSK1, or LEPR deficiency obesity Single- arm, baseline weight comparison 2020 21 CDER Dojolvi (Ultragenyx) [57] Long- chain fatty acid oxidation disorders Single- arm, pre/post comparison 2020 29 CDER Kebilidi (PTC Therapeutics) [58] AADC deficiency Single- arm gene therapy, milestone achievement from baseline 2024 35 CBER Casgevy (Vertex/CRISPR) [59] Sickle cell disease Single- arm gene therapy, VOC- free vs. baseline 2023 44 CBER Gamifant (Sobi) [60] Primary HLH Single- arm, response rate from baseline 2018 27 CDER 17528062, 2026, 5, D ow nloaded from https://ascpt.onlinelibrary.w iley.com /doi/10.1111/cts.70551 by Perpustakaan U M Pusat - T he U niversity O f N ew castle , W iley O nline L ibrary on [12/05/2026].
Biomarker Discovery:Article Title: Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial.
Article Snippet: .. Drug (Sponsor) Disease Design Year N Center Myozyme (Genzyme) [29] Pompe disease Single- arm open- label vs. natural history controls 2006 18 CBER Zolgensma (Novartis/ AveXis) [48] Spinal muscular atrophy Single- arm open- label vs. natural history data 2019 36 CBER Nulibry (BridgeBio/Origin) [49] Molybdenum cofactor deficiency Type A Single- arm vs. genotypematched natural history 2021 13 treated vs. 18 controls CDER Skysona (Bluebird Bio) [50] Cerebral adrenoleukodystrophy Single- arm gene therapy vs. natural history 2022 32 CBER Zokinvy (Eiger) [51] Hutchinson- Gilford progeria syndrome Single- arm vs. historical untreated survival data 2020 62 CDER Qalsody (Biogen) [52] ALS with SOD1 mutation Single- arm with biomarker + natural history 2023 108 CDER Sohonos (palovarotene) [53] Fibrodysplasia ossificans progressiva Single- arm vs. natural history bone formation 2023 107 CDER TABLE 6 | Patient- as- Own- Control Design Successes (Baseline Comparison). .. Drug (Sponsor) Disease Design Year N Center Veopoz (Regeneron) [54] CHAPLE disease (CD55 deficiency) Single- arm, baseline comparison 2023 10 CDER Imcivree (Rhythm) [55, 56] POMC, PCSK1, or LEPR deficiency obesity Single- arm, baseline weight comparison 2020 21 CDER Dojolvi (Ultragenyx) [57] Long- chain fatty acid oxidation disorders Single- arm, pre/post comparison 2020 29 CDER Kebilidi (PTC Therapeutics) [58] AADC deficiency Single- arm gene therapy, milestone achievement from baseline 2024 35 CBER Casgevy (Vertex/CRISPR) [59] Sickle cell disease Single- arm gene therapy, VOC- free vs. baseline 2023 44 CBER Gamifant (Sobi) [60] Primary HLH Single- arm, response rate from baseline 2018 27 CDER 17528062, 2026, 5, D ow nloaded from https://ascpt.onlinelibrary.w iley.com /doi/10.1111/cts.70551 by Perpustakaan U M Pusat - T he U niversity O f N ew castle , W iley O nline L ibrary on [12/05/2026].
Control:Article Title: Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial.
Article Snippet: .. Drug (Sponsor) Disease Design Year N Center Myozyme (Genzyme) [29] Pompe disease Single- arm open- label vs. natural history controls 2006 18 CBER Zolgensma (Novartis/ AveXis) [48] Spinal muscular atrophy Single- arm open- label vs. natural history data 2019 36 CBER Nulibry (BridgeBio/Origin) [49] Molybdenum cofactor deficiency Type A Single- arm vs. genotypematched natural history 2021 13 treated vs. 18 controls CDER Skysona (Bluebird Bio) [50] Cerebral adrenoleukodystrophy Single- arm gene therapy vs. natural history 2022 32 CBER Zokinvy (Eiger) [51] Hutchinson- Gilford progeria syndrome Single- arm vs. historical untreated survival data 2020 62 CDER Qalsody (Biogen) [52] ALS with SOD1 mutation Single- arm with biomarker + natural history 2023 108 CDER Sohonos (palovarotene) [53] Fibrodysplasia ossificans progressiva Single- arm vs. natural history bone formation 2023 107 CDER TABLE 6 | Patient- as- Own- Control Design Successes (Baseline Comparison). .. Drug (Sponsor) Disease Design Year N Center Veopoz (Regeneron) [54] CHAPLE disease (CD55 deficiency) Single- arm, baseline comparison 2023 10 CDER Imcivree (Rhythm) [55, 56] POMC, PCSK1, or LEPR deficiency obesity Single- arm, baseline weight comparison 2020 21 CDER Dojolvi (Ultragenyx) [57] Long- chain fatty acid oxidation disorders Single- arm, pre/post comparison 2020 29 CDER Kebilidi (PTC Therapeutics) [58] AADC deficiency Single- arm gene therapy, milestone achievement from baseline 2024 35 CBER Casgevy (Vertex/CRISPR) [59] Sickle cell disease Single- arm gene therapy, VOC- free vs. baseline 2023 44 CBER Gamifant (Sobi) [60] Primary HLH Single- arm, response rate from baseline 2018 27 CDER 17528062, 2026, 5, D ow nloaded from https://ascpt.onlinelibrary.w iley.com /doi/10.1111/cts.70551 by Perpustakaan U M Pusat - T he U niversity O f N ew castle , W iley O nline L ibrary on [12/05/2026].
Comparison:Article Title: Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial.
Article Snippet: .. Drug (Sponsor) Disease Design Year N Center Myozyme (Genzyme) [29] Pompe disease Single- arm open- label vs. natural history controls 2006 18 CBER Zolgensma (Novartis/ AveXis) [48] Spinal muscular atrophy Single- arm open- label vs. natural history data 2019 36 CBER Nulibry (BridgeBio/Origin) [49] Molybdenum cofactor deficiency Type A Single- arm vs. genotypematched natural history 2021 13 treated vs. 18 controls CDER Skysona (Bluebird Bio) [50] Cerebral adrenoleukodystrophy Single- arm gene therapy vs. natural history 2022 32 CBER Zokinvy (Eiger) [51] Hutchinson- Gilford progeria syndrome Single- arm vs. historical untreated survival data 2020 62 CDER Qalsody (Biogen) [52] ALS with SOD1 mutation Single- arm with biomarker + natural history 2023 108 CDER Sohonos (palovarotene) [53] Fibrodysplasia ossificans progressiva Single- arm vs. natural history bone formation 2023 107 CDER TABLE 6 | Patient- as- Own- Control Design Successes (Baseline Comparison). .. Drug (Sponsor) Disease Design Year N Center Veopoz (Regeneron) [54] CHAPLE disease (CD55 deficiency) Single- arm, baseline comparison 2023 10 CDER Imcivree (Rhythm) [55, 56] POMC, PCSK1, or LEPR deficiency obesity Single- arm, baseline weight comparison 2020 21 CDER Dojolvi (Ultragenyx) [57] Long- chain fatty acid oxidation disorders Single- arm, pre/post comparison 2020 29 CDER Kebilidi (PTC Therapeutics) [58] AADC deficiency Single- arm gene therapy, milestone achievement from baseline 2024 35 CBER Casgevy (Vertex/CRISPR) [59] Sickle cell disease Single- arm gene therapy, VOC- free vs. baseline 2023 44 CBER Gamifant (Sobi) [60] Primary HLH Single- arm, response rate from baseline 2018 27 CDER 17528062, 2026, 5, D ow nloaded from https://ascpt.onlinelibrary.w iley.com /doi/10.1111/cts.70551 by Perpustakaan U M Pusat - T he U niversity O f N ew castle , W iley O nline L ibrary on [12/05/2026].
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