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Bulbospinal muscular atrophy of childhood

MedGen UID:
1842671
•Concept ID:
C5680797
•
Disease or Syndrome
Orphanet: ORPHA206704

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBulbospinal muscular atrophy of childhood

Professional guidelines

PubMed

Nusinersen treatment response markers.
Fyfe I
Nat Rev Neurol 2022 Jul;18(7):381. doi: 10.1038/s41582-022-00684-z. PMID: 35676372
Respiratory management of children with spinal muscular atrophy (SMA).
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580

Recent clinical studies

Etiology

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E; SUNFISH Working Group
J Neurol 2023 May;270(5):2531-2546. Epub 2023 Feb 3 doi: 10.1007/s00415-023-11560-1. PMID: 36735057Free PMC Article
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.
Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group
N Engl J Med 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. PMID: 29091570
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK
N Engl J Med 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198. PMID: 29091557

Diagnosis

Spinal Muscular Atrophy.
Nicolau S, Waldrop MA, Connolly AM, Mendell JR
Semin Pediatr Neurol 2021 Apr;37:100878. Epub 2021 Feb 11 doi: 10.1016/j.spen.2021.100878. PMID: 33892848
Infantile spinal muscular atrophy (SMA).
Chabrol B, Desguerre I
Arch Pediatr 2020 Dec;27(7S):7S1-7S2. doi: 10.1016/S0929-693X(20)30268-2. PMID: 33357590
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580
Hirayama disease.
Sätilä H, Lähdesmäki J, Mäkelä E, Kähärä V, Hietaharju A
Duodecim 2016;132(19):1797-803. PMID: 29188975
Spinal muscular atrophy.
Wessel HB
Pediatr Ann 1989 Jul;18(7):421-7. doi: 10.3928/0090-4481-19890701-07. PMID: 2666923

Therapy

Spinal muscular atrophy 5Q - Treatment with nusinersen.
Brazilian Medical Association, Silvinato A, Bernardo WM
Rev Assoc Med Bras (1992) 2018 Jun;64(6):484-491. doi: 10.1590/1806-9282.64.06.484. PMID: 30304304
Gene Therapy Briefs.
Philippidis A
Hum Gene Ther Clin Dev 2017 Dec;28(4):167-174. doi: 10.1089/humc.2017.29031.bfs. PMID: 29243984
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group
N Engl J Med 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. PMID: 29091570
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK
N Engl J Med 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198. PMID: 29091557
Spinal muscular atrophy.
Lunn MR, Wang CH
Lancet 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. PMID: 18572081

Prognosis

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.
Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Enchanted voice.
Williams AN, Walter S
Arch Dis Child 2020 Feb;105(2):197-198. Epub 2018 Oct 31 doi: 10.1136/archdischild-2018-315795. PMID: 30381289
Gene Therapy Briefs.
Philippidis A
Hum Gene Ther Clin Dev 2017 Dec;28(4):167-174. doi: 10.1089/humc.2017.29031.bfs. PMID: 29243984
Hirayama disease.
Huang YL, Chen CJ
Neuroimaging Clin N Am 2011 Nov;21(4):939-50, ix-x. doi: 10.1016/j.nic.2011.07.009. PMID: 22032508
Neuromuscular diseases of childhood.
Russman BS, Schwartz RC
Curr Opin Pediatr 1993 Dec;5(6):669-74. doi: 10.1097/00008480-199312000-00005. PMID: 8124418

Clinical prediction guides

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E; SUNFISH Working Group
J Neurol 2023 May;270(5):2531-2546. Epub 2023 Feb 3 doi: 10.1007/s00415-023-11560-1. PMID: 36735057Free PMC Article
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.
Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Respiratory management of children with spinal muscular atrophy (SMA).
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK
N Engl J Med 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198. PMID: 29091557
Hirayama disease.
Huang YL, Chen CJ
Neuroimaging Clin N Am 2011 Nov;21(4):939-50, ix-x. doi: 10.1016/j.nic.2011.07.009. PMID: 22032508

Recent systematic reviews

Efficacy of risdiplam in spinal muscular atrophy: A systematic review and meta-analysis.
Pascual-Morena C, Martínez-Vizcaíno V, Cavero-Redondo I, Martínez-García I, Moreno-Herráiz N, Álvarez-Bueno C, Saz-Lara A
Pharmacotherapy 2024 Jan;44(1):97-105. Epub 2023 Aug 21 doi: 10.1002/phar.2866. PMID: 37574770
Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.
Aponte Ribero V, Martí Y, Batson S, Mitchell S, Gorni K, Gusset N, Oskoui M, Servais L, Sutherland CS
Neurology 2023 Nov 21;101(21):e2103-e2113. Epub 2023 Oct 9 doi: 10.1212/WNL.0000000000207878. PMID: 37813581Free PMC Article
Onasemnogene Abeparvovec in Type 1 Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis.
Pascual-Morena C, Cavero-Redondo I, Lucerón-Lucas-Torres M, Martínez-García I, Rodríguez-Gutiérrez E, Martínez-Vizcaíno V
Hum Gene Ther 2023 Feb;34(3-4):129-138. doi: 10.1089/hum.2022.161. PMID: 36136906
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.
Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison.
Ribero VA, Daigl M, Martí Y, Gorni K, Evans R, Scott DA, Mahajan A, Abrams KR, Hawkins N
J Comp Eff Res 2022 Apr;11(5):347-370. Epub 2022 Jan 18 doi: 10.2217/cer-2021-0216. PMID: 35040693

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