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| 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
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.
| 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 |