Article
Multidisciplinary Sciences
Francois Boemer, Jean-Hubert Caberg, Pablo Beckers, Vinciane Dideberg, Samantha di Fiore, Vincent Bours, Sandrine Marie, Joseph Dewulf, Lionel Marcelis, Nicolas Deconinck, Aurore Daron, Laura Blasco-Perez, Eduardo Tizzano, Mickael Hiligsmann, Jacques Lombet, Tatiana Pereira, Lucia Lopez-Granados, Sarvnaz Shalchian-Tehran, Veronique van Assche, Arabelle Willems, Sofie Huybrechts, Benedicte Mast, Rudolf van Olden, Tamara Dangouloff, Laurent Servais
Summary: Three new therapies for SMA have been approved by FDA and EMA since 2016, with emphasis on early administration before symptoms. A pilot program in Belgium successfully transitioned into an official neonatal screening program, providing valuable lessons for newborn screening.
SCIENTIFIC REPORTS
(2021)
Article
Pediatrics
Tomoko Lee, Sachi Tokunaga, Naoko Taniguchi, Tetsuro Fujino, Midori Saito, Hideki Shimomura, Yasuhiro Takeshima
Summary: The general population in Japan mostly supports screening newborns for spinal muscular atrophy (SMA), despite having little knowledge about the disease. They believe that early diagnosis is important and that treatments are available for SMA.
Review
Genetics & Heredity
Karolina Aragon-Gawinska, Charlotte Mouraux, Tamara Dangouloff, Laurent Servais
Summary: Early treatment in spinal muscular atrophy has a significant impact on patient prognosis, and the results vary depending on the number of SMN2 copies and the initial neurological status of the patient.
Article
Economics
Rimma Velikanova, Simon van der Schans, Matthias Bischof, Rudolf Walther van Olden, Maarten Postma, Cornelis Boersma
Summary: In this study conducted in the Netherlands, including spinal muscular atrophy (SMA) in the newborn screening program was found to improve health outcomes, reduce healthcare costs, and maximize survival through early detection and treatment.
Article
Genetics & Heredity
Bennett O. V. Shum, Ilya Henner, Anita Cairns, Carel Pretorius, Urs Wilgen, Paulette Barahona, Jacobus P. J. Ungerer, Glenn Bennett
Summary: Newborn screening for spinal muscular atrophy (SMA) usually relies on PCR-based assays to detect individuals with homozygous deletion in exon 7 of the SMN1 gene. Previous difficulties in accurately mapping short reads from NGS to SMN1 have hindered the use of NGS for SMA screening. In this study, we integrated an NGS assay with a custom bioinformatics algorithm and reporting software into an existing NBS program, demonstrating high sensitivity and specificity for SMA screening.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Kathryn Elkins, Angela Wittenauer, Arthur F. Hagar, Rachel Logan, Elizabeth Sekul, Yijin Xiang, Sumit Verma, William R. Wilcox
Summary: The purpose of this study is to present the results and findings of the newborn screening program for Spinal Muscular Atrophy (SMA) in the state of Georgia. The study analyzed the disease incidence, time to diagnosis and treatment, and early outcomes of SMA in newborns. The results showed an SMA incidence rate of approximately 1 in 18,840 births per year in Georgia. The study also highlighted the importance of immediate referral to neurology for further care upon positive screening results.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2022)
Review
Obstetrics & Gynecology
Maeve K. Hopkins, Lorraine Dugoff, Jeffrey A. Kuller
Summary: This article discusses the genetic forms of spinal muscular atrophy (SMA), guides obstetric providers in interpreting screening results, and recommends SMA carrier screening for all pregnant women. Understanding and interpreting carrier screening results is crucial for prenatal care providers.
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2021)
Article
Genetics & Heredity
Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Haide Poder, Katrin Gross-Paju, Sandra Utt, Riina Zordania, Inga Talvik, Eve Oiglane-Shlik, Kristina Muhu, Katrin Ounap
Summary: The study in Estonia described the birth prevalence of SMA from 1996 to 2020 and found that the birth prevalence of SMA in the country is similar to the median in Europe. The research provided valuable information on the epidemiology of SMA, which can guide the implementation of spinal muscular atrophy into the newborn screening program in Estonia.
FRONTIERS IN GENETICS
(2021)
Article
Clinical Neurology
Diana Weidlich, Laurent Servais, Imran Kausar, Ruth Howells, Matthias Bischof
Summary: This study evaluated the cost-effectiveness of newborn screening for 5q spinal muscular atrophy (SMA) in England. The results show that newborn screening improves health outcomes for SMA patients and is also cost-effective compared to no screening.
NEUROLOGY AND THERAPY
(2023)
Article
Clinical Neurology
Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh Mcmillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky
Summary: Spinal muscular atrophy is a genetic disorder that causes progressive muscle weakness and atrophy. Early therapeutic interventions are important for improving survival and outcomes. This study discussed a case of a preterm infant with spinal muscular atrophy who received early treatment with novel therapies.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Carmen Leon-Astudillo, Barry J. J. Byrne, Ramzi G. G. Salloum
Summary: Spinal muscular atrophy (SMA) is a rare genetic disease that can be improved with newborn screening and disease-modifying therapies. However, the treatment is complex and requires multidisciplinary care, posing challenges in implementation and sustainability.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Katarzyna Kotulska, Sergiusz Jozwiak, Maria Jedrzejowska, Monika Gos, Magdalena Ogrodnik, Jacek Wysocki, Hanna Czajka, Ernest Kuchar
Summary: Spinal muscular atrophy (SMA) is a common genetic disease with three approved therapies. Newborn screening programs are being introduced in many countries, but the timing of gene therapy for patients who received live vaccinations has not been addressed.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Claudia Wurster, Susanne Petri
Summary: This review aims to summarize the major clinical and basic science achievements in the field of spinal muscular atrophy.
CURRENT OPINION IN NEUROLOGY
(2022)
Article
Clinical Neurology
Jackie Chiang, Lena Xiao, Elisa Nigro, Aaron St-Laurent, Lauren Weinstock, Eugenia Law, Joanna Janevski, Sarah Kuyntjes, Nisha Cithiravel, Tuyen Tran, Nikolaus E. Wolter, Hernan Gonorazky, Reshma Amin
Summary: This study retrospectively investigated sleep disordered breathing in infants with spinal muscular atrophy (SMA) who received gene replacement therapy. The results showed improvement in sleep disordered breathing after treatment. However, the clinical significance of abnormal polysomnogram parameters for children without sleep disordered breathing or neuromuscular weakness remains unclear.
Letter
Genetics & Heredity
Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo, Franca Benini
Summary: The clinical outcomes of SMA patients receiving nusinersen were evaluated, showing positive responses in most patients but requiring complex multidisciplinary care. Adverse events during treatment led to treatment interruptions in some patients. Further research is needed to identify patients who may benefit the most from this treatment.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Ethnic Studies
Deanna Kepka, Julia Bodson, Djin Lai, Ana C. Sanchez-Birkhead, France A. Davis, Doriena Lee, Fahina Tavake-Pasi, Edwin Napia, Jeannette Villalta, Valentine Mukundente, Ryan Mooney, Heather Coulter, Louisa A. Stark
Summary: The study assessed factors associated with HPV vaccine-related awareness and knowledge among caregivers of adolescents from five ethnic community groups in Utah. Results showed low awareness and knowledge levels among participants, indicating a need for increased education and promotion of HPV vaccine-related issues.
ETHNICITY & HEALTH
(2021)
Article
Clinical Neurology
Basil T. Darras, Claudia A. Chiriboga, Susan T. Iannaccone, Kathryn J. Swoboda, Jacqueline Montes, Laurence Mignon, Shuting Xia, C. Frank Bennett, Kathie M. Bishop, Jeremy M. Shefner, Allison M. Green, Peng Sun, Ishir Bhan, Sarah Gheuens, Eugene Schneider, Wildon Farwell, Darryl C. De Vivo, Diana Castro, Margaret Cowie, Heather Gilbreath, Shanda Johnson, Melissa Kauk, Muna Khan, Ebra McElroy, Erin Neil Kneirbein, Leslie Nelson, Lauren Smith, Stephanie Trest, Sonya Aziz-Zaman, Joshua Cappell, Andrei Constantinescu, Rosangel Cruz, Jahannaz Dastgir, Sally Dunaway, Nicole Holuba, Alexander G. Khandji, Samantha Kramer, Jonathan Marra, Courtney Ortiz-Miller, Molly Popolizio, Rachel Salazar, Luz Sanabria, Douglas M. Sproule, Louis Weimer, Charles Berde, Ibrahim Binalsheikh, Robert Graham, Peter Kang, Anjali Koka, Mary Landrigan-, Wendy Liew, Jennifer Markowitz, Michael Paldino, Sanjay Prabhu, Navil Sethna, Edward Yang, Russell Butterfield, Deanna DiBella, Melissa Dixon, Summer Gibson, Erin Howard, Breanna Jensen, Nicholas E. Johnson, Donna Lei, Katie Mayne, Kelley J. Murphy, Tara Marie Newcomb, Suyi Niu, Michelle Page, Evan Pucillo, Chris Ramos, Aarati Rao, Nicole M. Rausch, Winter C. Redd, Sandra Reyna Villanueva, James Rian Davis, Ai Sakonji, Abby L. Smart, Susan Sorenson, Austin Stevens, Rachel Tennyson, Donata V. Trussell, Janine L. Wood, Michael J. Workman
Article
Multidisciplinary Sciences
Sonia M. Vallabh, Chloe K. Nobuhara, Franc Llorens, Inga Zerr, Piero Parchi, Sabina Capellari, Eric Kuhn, Jacob Klickstein, Jiri G. Safar, Flavia C. Nery, Kathryn J. Swoboda, Michael D. Geschwind, Henrik Zetterberg, Steven E. Arnold, Eric Vallabh Minikel, Stuart L. Schreiber
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2019)
Review
Clinical Neurology
Mei Baker, Robert Griggs, Barry Byrne, Anne M. Connolly, Richard Finkel, Lucja Grajkowska, Amanda Haidet-Phillips, Laura Hagerty, Robert Ostrander, Lianna Orlando, Kathryn Swoboda, Michael Watson, R. Rodney Howell
Article
Genetics & Heredity
Melissa A. Walker, Tally Lerman-Sagie, Kathryn Swoboda, Dorit Lev, Lubov Blumkin
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2019)
Article
Clinical Neurology
Bakri Elsheikh, Wendy King, Juan Peng, Kathy J. Swoboda, Sandra P. Reyna, Bernard LaSalle, Thomas W. Prior, W. David Arnold, John T. Kissel, Stephen J. Kolb
Article
Clinical Neurology
Christiano R. R. Alves, Ren Zhang, Alec J. Johnstone, Reid Garner, Pann H. Nwe, Jennifer J. Siranosian, Kathryn J. Swoboda
Article
Genetics & Heredity
Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E. R. Butchbach
Summary: Proximal spinal muscular atrophy (SMA) is an early-onset motor neuron disease caused by deletion or disabling mutations of survival motor neuron 1 (SMN1) and affected by the copy number of paralog SMN2. Array digital PCR (dPCR) can accurately and reliably measure SMN1 and SMN2 copy numbers and detect gene conversion events and partial deletions of SMN1. In SMA, higher SMN2 copy numbers are associated with milder disease severity.
Article
Clinical Neurology
Eric J. Eichelberger, Christiano R. R. Alves, Ren Zhang, Marco Petrillo, Patrick Cullen, Wildon Farwell, Jessica A. Hurt, John F. Staropoli, Kathryn J. Swoboda
Summary: This study identified HSPA7/HSP70B as a potential novel biomarker for tracking SMA progression, with changes in levels correlating with circulating neurofilament levels in SMA newborns and infants. Further research will determine the response of HSP70B levels to molecular therapies.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: Onasemnogene abeparvovec was effective and well tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: SPR1NT (NCT03505099) is a Phase III study investigating the efficacy and safety of onasemnogene abeparvovec in presymptomatic children with biallelic SMN1 mutations. The results showed that all 14 infants enrolled in the study were able to sit independently for at least 30 seconds within 18 months and none required permanent ventilation. The treatment was well tolerated and effective for children expected to develop SMA type 1.
Article
Clinical Neurology
Thomas J. Crawford, Kathryn C. Swoboda, Darryl De Vivo, Enrico Bertini, Wuh-Liang S. Hwu, Richard Finkel, Janbernd L. Kirschner, Nancy Kuntz, Aledie Navas A. Nazario, Julie Parsons, Astrid M. Pechmann, M. Monique M. J. Ryan, Russell Butterfield, Haluk Topaloglu, Tawfeg A. Ben-Omran, Valeria Sansone, Yuh-Jyh Jong, Francy Shu, Cong Zhu, Stephanie R. Raynaud, Tiffany D. Lago, Angela Paradis, Richard Foster, Russell Chin, Zdenek Berger, NURTURE Study Grp
Summary: The NURTURE study provides evidence for the effectiveness and safety of early treatment with nusinersen in children with presymptomatic spinal muscular atrophy. The results demonstrate the durability of treatment effects and the potential for improved outcomes in motor function and survival.
Article
Genetics & Heredity
Jaime E. Hale, Basil T. Darras, Kathryn J. Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N. Hay, Binod Kumar, Anne M. Counihan, Jacalyn Gerstel-Thompson, Inderneel Sahai, Roger B. Eaton, Anne Marie Comeau
Summary: The state of Massachusetts initiated newborn screening for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The screening identified 9 SMA-affected infants out of 179,467 neonates, with all referred to specialists by day 6 of life. Early data suggests that some SMA-affected children have remained asymptomatic and are meeting developmental milestones, while others have mild to moderate delays.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2021)
Article
Genetics & Heredity
Flavia C. Nery, Jennifer J. Siranosian, Ivy Rosales, Marc-Olivier Deguise, Amita Sharma, Abdurrahman W. Muhtaseb, Pann Nwe, Alec J. Johnstone, Ren Zhang, Maryam Fatouraei, Natassja Huemer, Christiano R. R. Alves, Rashmi Kothary, Kathryn J. Swoboda
NEUROLOGY-GENETICS
(2019)
Review
Genetics & Heredity
Kathleen J. Sweadner, Elena Arystarkhova, John T. Penniston, Kathryn J. Swoboda, Allison Brashear, Laurie J. Ozelius
NEUROLOGY-GENETICS
(2019)