October 2024 Research Spotlight:

FOCUS ON POMPE DISEASE

The second edition of SPOTLIGHT highlights recent scientific publications on Pompe disease. Authors who have been speakers at WORLDSymposium are noted in bold.

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• Precision medicine in action for Pompe disease
  Tarallo A, Parenti G, Brunetti-Pierri N.
  Mol Ther Nucleic Acids. 2024 Jul 9;35(3):102265. doi: 10.1016/j.omtn.2024.102265. eCollection 2024 Sep 10. PMID: 39100736
• Decoding the muscle transcriptome of patients with late onset Pompe disease reveals markers of disease progression
  Monceau A, Gokul Nath R, Suárez-Calvet X, Musumeci O, Toscano A, Kierdaszuk B, Kostera-Pruszczyk A, Domínguez-González C, Hernández-Lain A, Paradas C, Rivas E, Papadimas G, Papadopoulos C, Chrysanthou-Piterou M, Gallardo E, Olivé M, Lilleker J, Roberts ME, Marchese D, Lunazzi G, Heyn H, Fernández-Simón E, Villalobos E, Clark J, Katsikis P, Collins C, Mehra P, Laidler Z, Vincent A, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Raben N, Díaz-Manera J.
  Brain. 2024 Jul 24:awae249. doi: 10.1093/brain/awae249. Online ahead of print. PMID: 39045638
• 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.
  Eur J Neurol. 2024 Jul;31(7):e16292. doi: 10.1111/ene.16292. Epub 2024 Apr 8. PMID: 38587143
• Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry
  Berger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC Jr, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT.
  J Neurol. 2024 Aug;271(8):5433-5446. doi: 10.1007/s00415-024-12489-9. Epub 2024 Jun 19. PMID: 38896264
• Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024
  Schoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, Pijnappel WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, van der Ploeg AT.
  Eur J Neurol. 2024 Sep;31(9):e16383. doi: 10.1111/ene.16383. Epub 2024 Jun 14. PMID: 38873957
• Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
  van den Dorpel JJA, Mackenbach MJ, Dremmen MHG, van der Vlugt WMC, Rizopoulos D, van Doorn PA, van der Ploeg AT, Muetzel R, van der Beek NAME, van den Hout JMP.
  J Inherit Metab Dis. 2024 Jul;47(4):716-730. doi: 10.1002/jimd.12736. Epub 2024 Apr 8. PMID: 38584574
• Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease
  Tan L, Zschüntzsch J, Meyer S, Stobbe A, Bruex H, Regensburger AP, Claßen M, Alves F, Jüngert J, Rother U, Li Y, Danko V, Lang W, Türk M, Schmidt S, Vorgerd M, Schlaffke L, Woelfle J, Hahn A, Mensch A, Winterholler M, Trollmann R, Heiß R, Wagner AL, Raming R, Knieling F.
  Nat Commun. 2024 Sep 8;15(1):7843. doi: 10.1038/s41467-024-52143-6. PMID: 39245687
• Preclinical lentiviral hematopoietic stem cell gene therapy corrects Pompe disease-related muscle and neurological manifestations
  Yoon JK, Schindler JW, Loperfido M, Baricordi C, DeAndrade MP, Jacobs ME, Treleaven C, Plasschaert RN, Yan A, Barese CN, Dogan Y, Chen VP, Fiorini C, Hull F, Barbarossa L, Unnisa Z, Ivanov D, Kutner RH, Guda S, Oborski C, Maiwald T, Michaud V, Rothe M, Schambach A, Pfeifer R, Mason C, Biasco L, van Til NP.
  Mol Ther. 2024 Sep 17:S1525-0016(24)00606-3. doi: 10.1016/j.ymthe.2024.09.024. Online ahead of print. PMID: 39295144
• Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study
  Moschetti M, Lo Curto A, Giacomarra M, Francofonte D, Zizzo C, Messina E, Duro G, Colomba P.
  Int J Mol Sci. 2024 Aug 23;25(17):9139. doi: 10.3390/ijms25179139. PMID: 39273088
• Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease
  Najac C, van der Beek NAME, Boer VO, van Doorn PA, van der Ploeg AT, Ronen I, Kan HE, van den Hout JMP.
  Brain Commun. 2024 Sep 12;6(5):fcae303. doi: 10.1093/braincomms/fcae303. eCollection 2024. PMID: 39309683
• Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset
  Volke L, Daya NM, Döring K, Rohm M, Athamneh M, Zaehres H, Roos A, Güttsches AK, Mavrommatis L, Vorgerd M.
  Stem Cell Res. 2024 Sep;79:103459. doi: 10.1016/j.scr.2024.103459. Epub 2024 Jun 10. PMID: 38896971
• Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease
  Gaspar RC, Sakuma I, Nasiri A, Hubbard BT, LaMoia TE, Leitner BP, Tep S, Xi Y, Green EM, Ullman JC, Petersen KF, Shulman GI.
  Am J Physiol Endocrinol Metab. 2024 Oct 1;327(4):E524-E532. doi: 10.1152/ajpendo.00175.2024. Epub 2024 Aug 22. PMID: 39171753
• Comparing the efficacy of cipaglucosidase alfa plus miglustat with other enzyme replacement therapies for late-onset Pompe disease: a network meta-analysis utilizing patient-level and aggregate data
  Shohet S, Hummel N, Fu S, Keyzor I, MacCulloch A, Johnson N, Castelli J, Czarny-Ozga I, Mozaffar T, Thom H.
  J Comp Eff Res. 2024 Oct;13(10):e240045. doi: 10.57264/cer-2024-0045. Epub 2024 Sep 17. PMID: 39287071
• Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation
  Fares AH, Desai AK, Case LE, Sharon C, Klinepeter A, Kirby A, Lisi MT, Koch RL, Kishnani PS.
  Mol Genet Metab Rep. 2024 Sep 14;41:101141. doi: 10.1016/j.ymgmr.2024.101141. eCollection 2024 Dec. PMID: 39314994
• Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report
  Castellar-Leones SM, Ortiz-Corredor F, Manrique-Hernández D, Sánchez-Peñarete D, Ruiz-Ospina E, Soto-Peña D, Correa-Arrieta C.
  J Med Case Rep. 2024 Jul 18;18(1):328. doi: 10.1186/s13256-024-04638-5. PMID: 39020349
• Long-term observation of patients with advanced late-onset Pompe disease undergoing enzyme replacement therapy: A 15-year observation in a single center
  Mori-Yoshimura M, Takizawa H, Unuma A, Oya Y, Yorimoto K, Katsuta W, Miyagi K, Sato N, Hara T, Takahashi Y.
  Brain Dev. 2024 Aug 13:S0387-7604(24)00099-8. doi: 10.1016/j.braindev.2024.07.004. Online ahead of print. PMID: 39142946
• Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry
  Retailleau E, Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Béhin A, Solé G, Noury JB, Sacconi S, Magot A, Pakleza AN, Orlikowski D, Beltran S, Spinazzi M, Cintas P, Fournier M, Bouibede F, Prigent H, Nicolas G, Taouagh N, El Guizani T, Attarian S, Arrassi A, Hamroun D, Laforêt P.
  Eur J Neurol. 2024 Oct;31(10):e16428. doi: 10.1111/ene.16428. Epub 2024 Aug 7. PMID: 39109844
• Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease
  Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, Diaz-Martinez R.
  Mol Genet Genomic Med. 2024 Jul;12(7):e2480. doi: 10.1002/mgg3.2480. PMID: 38958145
• The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease
  Truninger MI, Werner H, Landolt MA, Hahn A, Hennermann JB, Lagler FB, Möslinger D, Pfrimmer C, Rohrbach M, Huemer M.
  J Inherit Metab Dis. 2024 Jul 9. doi: 10.1002/jimd.12777. Online ahead of print. PMID: 38979754
• Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database
  Attarian S, Campana ES, Perrier S, Afonso M, Karam P, Hai N, Laforet P.
  J Neurol. 2024 Sep;271(9):5846-5852. doi: 10.1007/s00415-024-12543-6. Epub 2024 Jul 4. PMID: 38963441