Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021

Hale, Kshea; Ojodu, Jelili; Singh, Sikha

doi:10.3390/ijns7030033

Cited by 28 publications

(24 citation statements)

References 6 publications

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“…Because of early successes with SMA treatments, the United States and several other countries have implemented widespread neonatal screening for SMN1 deletions, enabling identification of children at risk for SMA before symptom onset. This has critical implications for therapeutic interventions 18 – 20 .…”

Section: Mainmentioning

confidence: 99%

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Strauss

Farrar

Muntoni

et al. 2022

Nat Med

116

106

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Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated within six postnatal weeks. Of 15 children with three SMN2 copies treated before symptom onset, all stood independently before 24 months (P < 0.0001; 14 within normal developmental window), and 14 walked independently (P < 0.0001; 11 within normal developmental window). All survived without permanent ventilation at 14 months; ten (67%) maintained body weight (≥3rd WHO percentile) without feeding support through 24 months; and none required nutritional or respiratory support. No serious adverse events were considered treatment-related by the investigator. Onasemnogene abeparvovec was effective and well-tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.

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Section: Mainmentioning

confidence: 99%

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Strauss

Farrar

Muntoni

et al. 2022

Nat Med

116

106

View full text Add to dashboard Cite

show abstract

“…In order to prevent delays of diagnosis, inclusion of SMA in nationwide newborn screenings has been discussed and pilot tested in several countries for over a decade [ 7 ]. Between 2018 and 2022, most states or provinces of the US, Canada, and Australia, as well as three European countries (Germany, Norway, and Belgium) started to screen newborns [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs

Brandt

Johannsen

Inhestern

et al. 2022

Orphanet J Rare Dis

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Background Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and children, leading to muscle wasting and weakness, and premature death. Due to new developments of multiple disease-modifying treatments within the last years, the interest of research in patients affected by SMA increased steadily. However, the psychosocial situation of parents as informal caregivers is still rarely addressed. Objectives This review aims to highlight quantitative and qualitative data about the psychosocial situation, caregiver burden, and needs of parents as informal caregivers for children and adolescents with SMA. Methods A systematic literature review was performed including quantitative and qualitative original studies focusing on different psychosocial aspects and outcomes for parents of children and adolescents < 21 years of age with SMA type I–IV (PROSPERO; registration number CRD42020219020). We searched the following databases in November 2020 with a research update in August 2021: MEDLINE, CINAHL, PsycINFO and Web of Science. Results In total, 24 articles from 23 studies were selected for inclusion (15 quantitative studies, 7 articles from 6 qualitative studies, 2 mixed methods studies). The synthesis of included studies shows multiple sources of psychosocial burden for parents of children and adolescents affected by SMA: Most studies found reduced levels of quality of life, moderate to high levels of caregiver burden and distress, as well as physical and mental health symptoms. Further, findings indicate several unmet family needs regarding information, care coordination, treatment decisions, financial support, and adequate supportive care services. Conclusion Parents of children and adolescents with SMA face multiple sources of psychosocial stressors, caregiver burden and various unmet family needs. To unburden families, the needs of parents as caregivers should be included in integrated care paths for SMA to improve their psychosocial situation and thus their ability to care for their children and to treat or prevent physical and mental health problems due to overburdening. Future research should focus not only on quality of life and on caregiving-related burden but should also examine the clinical relevance of reported symptoms to support the implementation of adequate support services for families affected by SMA.

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“…The Newborn screening process for SMA focuses on the identification of exon 7 deletion in the SMN1 gene, with the goal to identify 95% of newborns with SMA ( 13 ). The majority of programs use the multiplex testing that is already utilized for severe combined immunodeficiency testing, a disease that has been part of the RUSP since 2010, which consequently decreases the cost of screening ( 13 ).…”

Section: From Diagnosis To the Delivery Of Therapiesmentioning

confidence: 99%

“…Screening programs have not reached all states and in addition, there is a lack of clear guidance regarding the minimum or ideal personnel necessary for the adequate execution of this process. For example, specialists need to be involved, and there needs to be an acceptable and ideal time to diagnosis and time to therapy ( 13 , 14 ).…”

Section: From Diagnosis To the Delivery Of Therapiesmentioning

confidence: 99%

Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs

2022

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Spinal muscular atrophy (SMA) is a rare genetic disease that results in progressive neuromuscular weakness. Without therapy, the most common form of the disease, type 1, typically results in death or chronic respiratory failure in the first 2 years of life. Thanks to the recent introduction of newborn screening programs and the discovery of three disease-modifying therapies in the last decade, the outcomes of children with SMA have dramatically improved. Patients are able to achieve many, if not all, of the typical neuromotor milestones, such as sitting, standing and walking, as well as safe oral intake. As the natural history of treated patients is continuously evolving, children with SMA continue to require complex and multidisciplinary care, posing implementation and sustainability challenges. Accordingly, there is a significant need for the application and evaluation of implementation science to address the steps involved in the diagnosis and treatment of patients with SMA, ensuring that all pertinent stakeholders and systems are working effectively to deliver timely and appropriate care. In this manuscript, we discuss the current challenges and gaps in the care for children with SMA, as well as how implementation science can advance this field. In addition, we provide an adapted implementation science framework that includes the main domains and subdomains involved in the care of patients with SMA.

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Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021

Cited by 28 publications

References 6 publications

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs

Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs

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