Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights

Autor: Mary Curry, Ilse Peterson, Lisa Belter, Fatou Sarr, Sarah Whitmire, Mary Schroth, Jill Jarecki

Publikováno v: Neurology and Therapy, Vol 12, Iss 5, Pp 1631-1647 (2023)

Abstract Objective As part of efforts to reduce diagnostic delays and enhance clinical trials, Cure SMA evaluated the effects of COVID-19 on SMA care and clinical trial conduct. Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neu

Externí odkaz: https://doaj.org/article/1648f62f8164406c83ecaabe057ea0b5

Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy

Autor: Marisa E. Schwab, Shirley Shao, Li Zhang, Billie Lianoglou, Lisa Belter, Jill Jarecki, Mary Schroth, Charlotte J. Sumner, Tippi MacKenzie

Publikováno v: Prenat Diagn
Prenatal diagnosis, vol 42, iss 11

ObjectiveIn utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.MethodsA multidisciplinary team designed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0073623ade6a269bfee9e458e416c2c6
https://doi.org/10.1002/pd.6228

Assessment of Transition Plan Implementation and Provider Engagement Amongst Adults Affected by Spinal Muscular Atrophy (SMA) (P2-8.011)

Autor: Lauren Eisenman, Mary Curry, Lisa Belter, Jill Jarecki, Mary Schroth

Publikováno v: Sunday, April 23.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::603d2690bd528b2dbbc1aa47de0064ac
https://doi.org/10.1212/wnl.0000000000202588

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Autor: Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba

Publikováno v: Neuromuscular Disorders. 31:574-582

Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4326212589673e2738fb522e0247b3f2
https://doi.org/10.1016/j.nmd.2021.03.007

Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease

Autor: Vamshi K. Rao, Daniel Kapp, Mary Schroth

Publikováno v: Journal of Managed Care & Specialty Pharmacy. 24:S3-S16

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that, in most cases, involves homozygous deletion of the SMN1 gene. This causes a deficiency in survival motor neuron (SMN) protein, which plays a critical role in moto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e915358165c83e63b3ddc9a1004e137a
https://doi.org/10.18553/jmcp.2018.24.12-a.s3