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Conference Abstracts

Logan G; Khandekar N; Hall B; Zachary J; Mandwie M; Hsi-Bell J; Huang A-M; Vyas K; Anderson D; Knight M; Farrar M; Lisowski L; Reed J; Mietzsch M; McKenna R; Alexander I, 2026, 'Broadly cross-reactive anti-capsid IgA is an overlooked barrier to AAV-mediated gene transfer', in MOLECULAR THERAPY, CELL PRESS, MA, Boston, Vol. 34, pp. 836 - 838, presented at Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), MA, Boston, 11 May 2026 - 15 May 2026

Osredkar D; Mirosevic S; Spazzapan P; Zakelj N; Bizjak N; Pokorn M; Lainscek D; Lisowski L; Perez-Iturralde A; Haase F; Gissen P; Finkel R; Farrar M, 2026, 'First-in-human clinical trial of AAV9-mediated gene augmentation therapy for CTNNB1 neurodevelopmental syndrome', in MOLECULAR THERAPY, CELL PRESS, MA, Boston, Vol. 34, pp. 264 - 266, presented at Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), MA, Boston, 11 May 2026 - 15 May 2026

Zurynski1 Y; McKnight L; Rojas C; Palmer EE; Farrar M; Recsei K; Roberts N; Millis N; Healy L; Baynam G; Hutchinson K, 2026, '“There's huge value in just bringing people together”: A rare disease organisation community of practice for integrated rare disease care', in International Journal of Integrated Care, Ubiquity Press, Vol. 26, pp. 437, http://dx.doi.org/10.5334/ijic.icic25437

Masson R; Baranello G; Servais L; Darras B; Day J; Deconinck N; Farrar M; Finkel R; Bertini E; Kirschner J; Mazurkiewicz-Bełdzińska M; Bader-Weder S; Gorni K; Schlegel V; Li Y; Scalco R; Mercuri E; on behalf of the Firefish S, 2025, '520PSafety update: risdiplam clinical trial program for spinal muscular atrophy (SMA)', in Neuromuscular Disorders, Elsevier, Vol. 53, pp. 105609, http://dx.doi.org/10.1016/j.nmd.2025.105609

Kölbel H; Wirth B; Stringer B; Zhang Y; Taghipour-Sheshdeh A; Zetzsche S; Piano V; Fuhrmann N; Becker J; Karakaya M; Goh S; Giacomotto J; Farrar M, 2025, '536PFalse-positive results in 5q-SMA newborn screening: SMN1 VUS studies in zebrafish support therapeutic decision', in Neuromuscular Disorders, Elsevier, Vol. 53, pp. 105625, http://dx.doi.org/10.1016/j.nmd.2025.105625

Darras B; Farrar M; Mercuri E; Strauss K; Day J; Chien Y; Masson R; Bernardo R; Alecu I; Dodd N; Mehl L; Connolly A, 2024, 'Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic SMA: long-term follow-up study', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, CZECH REPUBLIC, Prague, Vol. 43, presented at 29th International Congress of the World-Muscle-Society (WMS), CZECH REPUBLIC, Prague, 08 October 2024 - 12 October 2024

Servais L; Finkel R; Farrar M; Vlodavets D; Zanoteli E; Al-Muhaizea M; Araújo A; Nelson L; Jaber B; Gorni K; Kletzl H; Palfreeman L; Gaki E; Rabbia M; Summers D; Fontoura P; Bertini E; Group RS, 2024, '21O RAINBOWFISH: 2-year efficacy and safety data of risdiplam in infants with presymptomatic SMA', in Neuromuscular Disorders, Elsevier, Vol. 43, pp. 104441.738, http://dx.doi.org/10.1016/j.nmd.2024.07.747

Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servals L; McMillan H; Finkel R; Swoboda K; Kwon J; Zaidman C; Chiriboga C; Iannaccone S; Krueger J; Parsons J; Shieh P; Kavanagh S; Chand D; Tauscher-Wisniewski S; McGill B; Macek T, 2022, 'Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and Two Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022

Strauss K; Muntoni F; Farrar M; Saito K; Mendell J; Servais L; McMillan H; Finkel R; Swoboda K; Kwon J; Zaidman C; Chiriboga C; Lannaccone S; Krueger J; Parsons J; Shieh P; Kavanagh S; Chand D; Tauscher-Wisniewski S; McGill B; Macek T, 2022, 'Onasemnogene Abeparvovec in Presymptomatic Spinal Muscular Atrophy (SMA): SPRINT Study Update in Children with Three Copies of SMN2', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022

Finkel RS; Farrar MA; Vlodavets D; Servais L; Zanoteli E; Al-Muhaizea M; Nelson L; Prufer A; Wang Y; Fisher C; Gerber M; Gorni K; Kletzl H; Palfreeman L; Scalco R; Bertini E, 2022, 'RAINBOWFISH: Preliminary Efficacy and Safety Data in Risdiplam-Treated Infants with Presymptomatic SMA', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, WA, Seattle, Vol. 98, presented at Annual Meeting of the American-Academy-of-Neurology, WA, Seattle, 02 April 2022 - 07 April 2022

Gonski K; Chuang S; Teng A; Thambipillay G; Farrar M; Menezes M; Fitzgerald D, 2022, 'Respiratory outcomes before and after the introduction of nusinersen in patients with spinal muscular atrophy (Types 1-3)', in RESPIROLOGY, WILEY, Vol. 27, pp. 63 - 63, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000769654800098&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Darras B; Hagenacker T; Finkel R; Mercuri E; Montes J; Kuntz N; Farrar M; Sansone V; Berger Z; MacCannell D; Shen C; Paradis A; Bohn J; Wagner J; Somera-Molina K, 2022, 'P.100 Rationale/design of the phase 3b ASCEND study of investigational higher dose nusinersen in participants with SMA previously treated with risdiplam', in Neuromuscular Disorders, Elsevier, Vol. 32, pp. s86, http://dx.doi.org/10.1016/j.nmd.2022.07.185

Frohlich M; Widger J; Thambipillay G; Teng A; Farrar M; Chuang S, 2021, 'PREDICTORS OF NOCTURNAL HYPOVENTILATION IN PAEDIATRIC NEUROMUSCULAR PATIENTS: FVC Z-SCORE', in RESPIROLOGY, WILEY, Vol. 26, pp. 190 - 190, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000644657800360&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Servais L; Al-Muhaizea M; Farrar M; Nelson L; Prufer A; Finkel R; Wang Y; Zanoteli E; El-Khairi M; Gerber M; Gorni K; Kletzl H; Palfreeman L; Scalco R; Bertini E, 2021, 'CLINICAL TRIAL HIGHLIGHTS O.4 RAINBOWFISH: A study of risdiplam in infants with presymptomatic spinal muscular atrophy (SMA)', in Neuromuscular Disorders, Elsevier, Vol. 31, pp. s48, http://dx.doi.org/10.1016/j.nmd.2021.07.021

Bertini E; Al-Muhaizea M; Farrar M; Nelson L; Araujo APDQC; Servais L; Wang Y; Zanoteli E; El-Khairi M; Gerber M; Gorni K; Kletzl H; Palfreeman L; Scalco RS; Finkel R, 2021, 'RAINBOWFISH: A study of risdiplam in infants with presymptomatic SMA', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, Vol. 28, pp. 396 - 396

Crawford T; Swoboda K; Sumner C; Farrar M; Muntoni F; Finkel R; Mercuri E; Sohn J; Petrillo M; Chin R; Jiang X; Paradis A, 2021, 'SMA - TREATMENT EP.286 Phosphorylated neurofilament heavy chain level is associated with future motor function in nusinersen-treated individuals with infantile-onset SMA', in Neuromuscular Disorders, Elsevier, Vol. 31, pp. s137, http://dx.doi.org/10.1016/j.nmd.2021.07.311

Frohlich M; Widger J; Thambipillay G; Teng A; Farrar M; Chuang S, 2020, 'Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders: a threshold for FVC z-score', European Respiratory Society (ERS), pp. 1223, presented at Paediatric respiratory physiology and sleep, http://dx.doi.org/10.1183/13993003.congress-2020.1223

Mueller-Felber W; Darras BT; Chiriboga CA; Farrar MA; Mercuri E; Kirschner J; Kuntz NL; Acsadi G; Tulinius M; Montes J; Gambino G; Foster R; Ramirez-Schrempp D; Wong J; Kandinov B; Farwell W, 2020, 'Longer-term Nusinersen Treatment According to Age at First Dose: Results From the SHINE Study in Later-onset Spinal Muscular Atrophy', in EUROPEAN JOURNAL OF NEUROLOGY, WILEY, ELECTR NETWORK, Vol. 27, pp. 221 - 221, presented at 6th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 23 May 2020 - 26 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000534616800321&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Kirschner J; Darras B; Farrar M; Mercuri E; Chiriboga C; Kuntz N; Shieh P; Tulinius M; Montes J; Reyna S; Gambino G; Foster R; Bhan I; Wong J; Farwell W, 2019, 'P.352Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): results from the SHINE study', in Neuromuscular Disorders, Elsevier, DENMARK, Copenhagen, Vol. 29, pp. s184, presented at 24th International Annual Congress of the World-Muscle-Society (WMS), DENMARK, Copenhagen, 01 October 2019 - 05 October 2019, http://dx.doi.org/10.1016/j.nmd.2019.06.514

Finkel RS; Castro D; Farrar MA; Tulinius M; Krosschell KJ; Saito K; Zhang Y; Bhan I; Farwell W; Reyna SP, 2019, 'Interim Report on the Safety and Efficacy of Longer-Term Treatment With Nusinersen in Infantile-Onset Spinal Muscular Atrophy (SMA): Updated Results From the SHINE Study', in NEUROLOGY, LIPPINCOTT WILLIAMS & WILKINS, PA, Philadelphia, Vol. 92, presented at 71st Annual Meeting of the American-Academy-of-Neurology (AAN), PA, Philadelphia, 04 May 2019 - 10 May 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000475965906183&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Farrar MA; Tomlinson SE; Howells J; Lin CS-Y; Carey K; Park SB; Hollingsworth G; Lawson JA; Kiernan MC; Berkovic SF; Burke D; Scheffer IE, 2019, '009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels', in Journal of Neurology Neurosurgery & Psychiatry, BMJ, Vol. 90, pp. a4.1 - a4a4, http://dx.doi.org/10.1136/jnnp-2019-anzan.9

Kariyawasam DS; Samapio H; Mowat D; Farrar M, 2019, '023 Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia', in Journal of Neurology Neurosurgery & Psychiatry, BMJ, Vol. 90, pp. a8.3 - a8a9, http://dx.doi.org/10.1136/jnnp-2019-anzan.22

Seow C; Farrar M; Doumit M; Thambipillay G; Widger J; Jaffe A; Chuang SY, 2019, 'Compliance to Respiratory Care Guidelines for Children with Neuromuscular Disease at Sydney Children’s Hospital', in American Journal of Respiratory and Critical Care Medicine, Oxford University Press (OUP), Vol. 199, pp. a3591 - a3591, presented at B53. SLEEP DISORDERED BREATHING AND LONG-TERM VENTILATION IN PEDIATRICS, http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a3591

Kirschner J; Darras BT; Farrar MA; Mercuri E; Chiriboga CA; Kuntz NL; Shieh PB; Tulinius M; Montes J; Reyna SP; Gambino G; Foster R; Bhan I; Wong J; Farwell W, 2019, 'Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): Results from the shine study', in Journal of the Neurological Sciences, Elsevier, Vol. 405, pp. 248 - 249, http://dx.doi.org/10.1016/j.jns.2019.10.1272

Kandula T; Farrar M; Murray J; Goldstein D; Krishnan A; Park S, 2016, '9. Subclinical peripheral neuropathy prior to chemotherapy in colorectal cancer patients – Myth or reality?', in Clinical Neurophysiology, Elsevier BV, Vol. 127, pp. e13 - e13, http://dx.doi.org/10.1016/j.clinph.2015.11.029

Farrar MA; Chew K; Widger J, 2015, 'The Impact Of Nutrition On Respiratory Function In Duchenne Muscular Dystrophy', in The Impact Of Nutrition On Respiratory Function In Duchenne Muscular Dystrophy, presented at Australian Thoracic Society ASM


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