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Life-Saving Treatments for Spinal Muscular Atrophy Global Access and Availability
Indexado
WoS WOS:001163611200002
Scopus SCOPUS_ID:85195450946
DOI 10.1212/CPJ.0000000000200224
Año 2024
Tipo artículo de investigación

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras


Abstract



Background and Objectives Spinal muscular atrophy (SMA) is a neurodegenerative disorder manifesting with progressive muscle weakness and atrophy. SMA type 1 used to be fatal within the first 2 years of life, but is now treatable with therapies targeting splicing modification and gene replacement. Nusinersen, risdiplam, and onasemnogene abeparvovec-xioi improve survival, motor strength, endurance, and ability to thrive, allowing many patients to potentially attain a normal life; all have been recently approved by major regulatory agencies. Although these therapies have revolutionized the world of SMA, they are associated with a high economic burden, and access to these therapies is limited in some countries. The primary objective of this study was to compare the availability and implementation of treatment of SMA from different regions of the world.Methods In this qualitative study, we surveyed health care providers from 21 countries regarding their experiences caring for patients with SMA. The main outcome measures were provider survey responses on newborn screening, drug availability/access, barriers to treatment, and related questions.Results Twenty-four providers from 21 countries with decades of experience (mean 26 years) in treating patients with SMA responded to the survey. Nusinersen was the most available therapy for SMA. Our survey showed that while genetic testing is usually available, newborn screening is still unavailable in many countries. The provider-reported treatment cost also varied between countries, and economic burden was a major barrier in treating patients with SMA.Discussion Overall, this survey highlights the global inequality in managing patients with SMA. The spread of newborn screening is essential in ensuring improved access to care for patients with SMA. With the advancement of neurotherapeutics, more genetic diseases will soon be treatable, and addressing the global inequality in clinical care will require novel approaches to mitigate such inequality in the future.

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Disciplinas de Investigación



WOS
Clinical Neurology
Scopus
Sin Disciplinas
SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



Ord. Autor Género Institución - País
1 Armengol, Victor D. Hombre YALE UNIV - Estados Unidos
Yale School of Medicine - Estados Unidos
2 Darras, Basil T. Hombre Boston Childrens Hosp - Estados Unidos
3 Abulaban, Ahmad A. - King Saud Bin Abdulaziz Univ Hlth Sci - Arabia Saudí
King Saud bin Abdulaziz University for Health Sciences - Arabia Saudí
4 Alshehri, Ali - King Faisal Specialist Hosp & Res Ctr - Arabia Saudí
King Faisal Specialist Hospital & Research Centre - Arabia Saudí
5 Barisic, Nina - Univ Zagreb - Croacia
University of Zagreb School of Medicine - Croacia
6 Ben-Omran, Tawfeg - Sidra Med - Catar
Hamad Med Corp - Catar
Hamad Medical Corporation - Catar
7 Bernert, Guenther - Klin Favoriten - Austria
8 Castiglioni, Claudia - Clin Meds - Chile
Clinica Meds, Chile - Chile
9 Chien, Yin-Hsiu - Natl Taiwan Univ Hosp - Taiwán
National Taiwan University Hospital - Taiwán
10 Farrar, Michelle A. - Sydney Childrens Hosp Network - Australia
Sydney Children's Hospital, Randwick - Australia
11 Kandawasvika, Gwendoline - Univ Zimbabwe - Zimbabue
University of Zimbabwe - Zimbabue
12 Khadilkar, Satish - Bombay Hosp & Med Res Ctr - India
Bombay Hospital and Medical Research Centre - India
13 Mah, Jean - Univ Calgary - Canadá
Cumming School of Medicine - Canadá
14 Marini-Bettolo, Chiara - Newcastle Univ - Reino Unido
University of Newcastle upon Tyne, Faculty of Medical Sciences - Reino Unido
15 Osredkar, Damjan - Univ Med Ctr Ljubljana - Eslovenia
Univerzitetni Klinični Center Ljubljana - Eslovenia
16 Pfeffer, Gerald - Univ Calgary - Canadá
Cumming School of Medicine - Canadá
17 Piazzon, Flavia B. - UNIV SAO PAULO - Brasil
Universidade de São Paulo - Brasil
18 Castellano, Inmaculada Pitarch - Hosp Univ & Politecn La Fe - España
Hospital Universitari i Politècnic La Fe - España
19 Quijano-Roy, Susana - Raymond Poincare Univ Hosp UVSQ - Francia
Raymond Poincaré University Hospital (UVSQ) - Francia
20 Saito, Kayoko - Tokyo Womens Med Univ - Japón
Tokyo Women's Medical University - Japón
21 Shin, Jin-Hong - Pusan Natl Univ Yangsan Hosp - Corea del Sur
Pusan National University - Corea del Sur
22 Vazquez-Costa, Juan F. - Hosp Univ & Politecn La Fe - España
Hospital Universitari i Politècnic La Fe - España
23 Walter, Maggie C. - Ludwig Maximilians Univ Munchen - Alemania
Klinikum der Universität München - Alemania
24 Wanigasinghe, Jithangi - Univ Colombo - Sri Lanka
University of Colombo - Sri Lanka
25 Xiong, Hui - Peking Univ First Hosp - China
Peking University First Hospital - China
26 Griggs, Robert C. - Univ Rochester - Estados Unidos
University of Rochester Medical Center - Estados Unidos
27 Roy, Bhaskar - YALE UNIV - Estados Unidos
Yale School of Medicine - Estados Unidos

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Financiamiento



Fuente
National Institute of Neurological Disorders and Stroke
NINDS

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Agradecimientos



Agradecimiento
Partly supported by a grant from NINDS NS061799.
Partly supported by a grant from NINDS NS061799.

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