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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

Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency.
Butterfield RJ
Semin Pediatr Neurol 2021 Jul;38:100899. Epub 2021 May 29 doi: 10.1016/j.spen.2021.100899. PMID: 34183144Free PMC Article
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 Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency.
Butterfield RJ
Semin Pediatr Neurol 2021 Jul;38:100899. Epub 2021 May 29 doi: 10.1016/j.spen.2021.100899. PMID: 34183144Free PMC Article
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
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.
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
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

Therapy

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Mercuri E, Vilchez JJ, Boespflug-Tanguy O, Zaidman CM, Mah JK, Goemans N, Müller-Felber W, Niks EH, Schara-Schmidt U, Bertini E, Comi GP, Mathews KD, Servais L, Vandenborne K, Johannsen J, Messina S, Spinty S, McAdam L, Selby K, Byrne B, Laverty CG, Carroll K, Zardi G, Cazzaniga S, Coceani N, Bettica P, McDonald CM; EPIDYS Study Group
Lancet Neurol 2024 Apr;23(4):393-403. doi: 10.1016/S1474-4422(24)00036-X. PMID: 38508835
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR
Lancet Neurol 2021 Apr;20(4):284-293. Epub 2021 Mar 17 doi: 10.1016/S1474-4422(21)00001-6. PMID: 33743238
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

Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.
Angilletta I, Ferrante R, Giansante R, Lombardi L, Babore A, Dell'Elice A, Alessandrelli E, Notarangelo S, Ranaudo M, Palmarini C, De Laurenzi V, Stuppia L, Rossi C
Int J Mol Sci 2023 Oct 3;24(19) doi: 10.3390/ijms241914873. PMID: 37834320Free 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
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR
Lancet Neurol 2021 Apr;20(4):284-293. Epub 2021 Mar 17 doi: 10.1016/S1474-4422(21)00001-6. PMID: 33743238
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
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

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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