Amicus Therapeutics[Grants and Funding] - Search Results

Year	Number of Results
2019	2
2020	1
2021	2
2023	1
2024	5

1

Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy.

Auray-Blais C, Lavoie P, Martineau T, Ntumba GK, Gamrani M, Khan A, Altarescu G, Lehman A, Goker-Alpan O, Nowak A, West ML, Bichet DG. Auray-Blais C, et al. Bioanalysis. 2023 Dec;15(23):1421-1437. doi: 10.4155/bio-2023-0160. Epub 2023 Oct 17. Bioanalysis. 2023. PMID: 37847061

2

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders.

Mulberg AE, Bucci-Rechtweg C, Giuliano J, Jacoby D, Johnson FK, Liu Q, Marsden D, McGoohan S, Nelson R, Patel N, Romero K, Sinha V, Sitaraman S, Spaltro J, Kessler V. Mulberg AE, et al. Orphanet J Rare Dis. 2019 Feb 8;14(1):36. doi: 10.1186/s13023-019-1017-5. Orphanet J Rare Dis. 2019. PMID: 30736861 Free PMC article.

3

Inflammation and Exosomes in Fabry Disease Pathogenesis.

Coelho-Ribeiro B, Silva HG, Sampaio-Marques B, Fraga AG, Azevedo O, Pedrosa J, Ludovico P. Coelho-Ribeiro B, et al. Cells. 2024 Apr 9;13(8):654. doi: 10.3390/cells13080654. Cells. 2024. PMID: 38667269 Free PMC article. Review.

4

Context-Specific Function of the Engineered Peptide Domain of PHP.B.

Martino RA, Fluck EC 3rd, Murphy J, Wang Q, Hoff H, Pumroy RA, Lee CY, Sims JJ, Roy S, Moiseenkova-Bell VY, Wilson JM. Martino RA, et al. J Virol. 2021 Sep 27;95(20):e0116421. doi: 10.1128/JVI.01164-21. Epub 2021 Aug 4. J Virol. 2021. PMID: 34346767 Free PMC article.

5

The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

Sorriento D, Iaccarino G. Sorriento D, et al. Int J Mol Sci. 2021 Jan 29;22(3):1331. doi: 10.3390/ijms22031331. Int J Mol Sci. 2021. PMID: 33572752 Free PMC article. Review.

6

Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS^®) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data.

Kishnani PS, Shohet S, Raza S, Hummel N, Castelli JP, Sitaraman Das S, Jiang H, Kopiec A, Keyzor I, Hahn A. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Jan 31;8(1):13. doi: 10.1186/s41687-024-00686-z. J Patient Rep Outcomes. 2024. PMID: 38294575 Free PMC article.

7

Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M; Pompe Study Group; Attarian S, Laforêt P. Tard C, et al. Eur J Neurol. 2024 Apr 8:e16292. doi: 10.1111/ene.16292. Online ahead of print. Eur J Neurol. 2024. PMID: 38587143

8

Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity.

Harfouche M, Kishnani PS, Krusinska E, Gault J, Sitaraman S, Sowinski A, Katz I, Austin S, Goldstein M, Mulberg AE. Harfouche M, et al. J Patient Rep Outcomes. 2020 Oct 9;4(1):83. doi: 10.1186/s41687-020-00245-2. J Patient Rep Outcomes. 2020. PMID: 33034771 Free PMC article.

9

The parent and family impact of CLN3 disease: an observational survey-based study.

Schulz A, Patel N, Brudvig JJ, Stehr F, Weimer JM, Augustine EF. Schulz A, et al. Orphanet J Rare Dis. 2024 Mar 18;19(1):125. doi: 10.1186/s13023-024-03119-8. Orphanet J Rare Dis. 2024. PMID: 38500130 Free PMC article.

10

Fabry-specific treatment in Australia: time to align eligibility criteria with international best practices.

Nicholls K, Denaro C, Tchan M, Ellaway C, Bratkovic D, Campbell S, Fookes M, Thomas M. Nicholls K, et al. Intern Med J. 2024 Jan 11. doi: 10.1111/imj.16327. Online ahead of print. Intern Med J. 2024. PMID: 38212950

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