Spinal Muscular Atrophy A (Now) Treatable Neurodegenerative Disease

被引：6

作者：

Fay, Alex ^{[1
]}

机构：

[1] Univ Calif San Francisco, 1875 4th St,Suite 5A, San Francisco, CA 94158 USA

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2023年 / 70卷 / 05期

关键词：

Spinal muscular atrophy; Gene therapy; Motor neuron disease; Newborn screening; WERDNIG-HOFFMANN DISEASE; PLACEBO-CONTROLLED TRIAL; NATURAL-HISTORY; VALPROIC ACID; DOUBLE-BLIND; SHAM CONTROL; ONSET; NUSINERSEN; CHILDHOOD; GENE;

D O I：

10.1016/j.pcl.2023.06.002

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The last 6 years have brought transformative changes to the treatment of SMA, with three approved therapies that are lifesaving in the infantile period and life-altering across the age spectrum. Newborn screening will allow for the greatest benefit of each therapy, as treatment can be started in the pre-symptomatic period. Still, many patients will continue to have residual motor disability, so adjunctive therapies, combined therapies, and improved delivery of current treatments to motor neurons will be needed. The achievements in treating this neurodegenerative disease offer hope for other, more rare forms of SMA, and for neurological diseases across the lifespan.

引用

页码：963 / 977

页数：15

共 83 条

[41] Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy [J].

Lowes, Linda P. ;

Alfano, Lindsay N. ;

Arnold, W. David ;

Shell, Richard ;

Prior, Thomas W. ;

McColly, Markus ;

Lehman, Kelly J. ;

Church, Kathleen ;

Sproule, Douglas M. ;

Nagendran, Sukumar ;

Menier, Melissa ;

Feltner, Douglas E. ;

Wells, Courtney ;

Kissel, John T. ;

Al-Zaidy, Samiah ;

Mendell, Jerry .

PEDIATRIC NEUROLOGY, 2019, 98 :39-45

[42] Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy [J].

Lusakowska, Anna ;

Jedrzejowska, Maria ;

Kaminska, Anna ;

Janiszewska, Katarzyna ;

Grochowski, Przemyslaw ;

Zimowski, Janusz ;

Sierdzinski, Janusz ;

Kostera-Pruszczyk, Anna .

ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)

[43]

MacLeod M J, 1999, Eur J Paediatr Neurol, V3, P65, DOI 10.1016/S1090-3798(99)80004-X

[44] Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review [J].

Masson, Riccardo ;

Brusa, Chiara ;

Scoto, Mariacristina ;

Baranello, Giovanni .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2021, 63 (05) :527-536

[45] Clinical Experience With Gene Therapy in Older Patients With Spinal Muscular Atrophy [J].

Matesanz, Susan E. ;

Battista, Vanessa ;

Flickinger, Jean ;

Jones, Jennifer N. ;

Kichula, Elizabeth A. .

PEDIATRIC NEUROLOGY, 2021, 118 :1-5

[46] GENE FOR CHRONIC PROXIMAL SPINAL MUSCULAR ATROPHIES MAPS TO CHROMOSOME-5Q [J].

MELKI, J ;

ABDELHAK, S ;

SHETH, P ;

BACHELOT, MF ;

BURLET, P ;

MARCADET, A ;

AICARDI, J ;

BAROIS, A ;

CARRIERE, JP ;

FARDEAU, M ;

FONTAN, D ;

PONSOT, G ;

BILLETTE, T ;

ANGELINI, C ;

BARBOSA, C ;

FERRIERE, G ;

LANZI, G ;

OTTOLINI, A ;

BABRON, MC ;

COHEN, D ;

HANAUER, A ;

CLERGETDARPOUX, F ;

LATHROP, M ;

MUNNICH, A ;

FREZAL, J .

NATURE, 1990, 344 (6268) :767-768

[47] Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy [J].

Mendell, J. R. ;

Al-Zaidy, S. ;

Shell, R. ;

Arnold, W. D. ;

Rodino-Klapac, L. R. ;

Prior, T. W. ;

Lowes, L. ;

Alfano, L. ;

Berry, K. ;

Church, K. ;

Kissel, J. T. ;

Nagendran, S. ;

L'Italien, J. ;

Sproule, D. M. ;

Wells, C. ;

Cardenas, J. A. ;

Heitzer, M. D. ;

Kaspar, A. ;

Corcoran, S. ;

Braun, L. ;

Likhite, S. ;

Miranda, C. ;

Meyer, K. ;

Foust, K. D. ;

Burghes, A. H. M. ;

Kaspar, B. K. .

NEW ENGLAND JOURNAL OF MEDICINE, 2017, 377 (18) :1713-1722

[48] Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy [J].

Mendell, Jerry R. ;

Al-Zaidy, Samiah A. ;

Lehman, Kelly J. ;

McColly, Markus ;

Lowes, Linda P. ;

Alfano, Lindsay N. ;

Reash, Natalie F. ;

Iammarino, Megan A. ;

Church, Kathleen R. ;

Kleyn, Aaron ;

Meriggioli, Matthew N. ;

Shell, Richard .

JAMA NEUROLOGY, 2021, 78 (07) :834-841

[49] Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy [J].

Mercuri, E. ;

Bertini, E. ;

Messina, S. ;

Solari, A. ;

D'Amico, A. ;

Angelozzi, C. ;

Battini, R. ;

Berardinelli, A. ;

Boffi, P. ;

Bruno, C. ;

Cini, C. ;

Colitto, F. ;

Kinali, M. ;

Minetti, C. ;

Mongini, T. ;

Morandi, L. ;

Neri, G. ;

Orcesi, S. ;

Pane, M. ;

Pelliccioni, M. ;

Pini, A. ;

Tiziano, F. D. ;

Villanova, M. ;

Vita, G. ;

Brahe, C. .

NEUROLOGY, 2007, 68 (01) :51-55

[50] Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy [J].

Mercuri, E. ;

Darras, B. T. ;

Chiriboga, C. A. ;

Day, J. W. ;

Campbell, C. ;

Connolly, A. M. ;

Iannaccone, S. T. ;

Kirschner, J. ;

Kuntz, N. L. ;

Saito, K. ;

Shieh, P. B. ;

Tulinius, M. ;

Mazzone, E. S. ;

Montes, J. ;

Bishop, K. M. ;

Yang, Q. ;

Foster, R. ;

Gheuens, S. ;

Bennett, C. F. ;

Farwell, W. ;

Schneider, E. ;

De Vivo, D. C. ;

Finkel, R. S. ;

Bradley, Walter G. ;

Kaufmann, Petra ;

Dickson, Patricia I. ;

Reingold, Stephen C. ;

Davis, Charles S. ;

Arredondo, Kristen ;

Castro, Diana ;

Cowie, Margaret ;

Farrow-Gillespie, Alan ;

Hebert, Andrew ;

Kauk, Melissa ;

Miller, Nancy ;

Nelson, Leslie ;

Spain, Thomas, Jr. ;

Cappell, Joshua ;

Constantinescu, Andrei ;

Cruz, Rosangel ;

Dastgir, Jahannaz ;

De Vivo, Darryl ;

Dunaway, Sally ;

Engelstad, Kristin ;

Khandji, Alexander G. ;

Kramer, Samantha ;

Marra, Jonathan ;

Popolizio, Molly ;

Salazar, Rachel ;

Weimer, Louis H. .

NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (07) :625-635

← 1 2 3 4 5 6 7 8 9 →