Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Article Clinical Neurology

Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations

Hugh J. McMillan et al.

Summary: The pilot NBS program in Ontario has established a standardized pathway to facilitate early diagnosis and treatment of SMA, aiming to provide timely medical services to SMA infants in need of therapy.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2021)

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Review Genetics & Heredity

Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments

Tamara Dangouloff et al.

Summary: The review summarizes studies on the cost of caring for spinal muscular atrophy (SMA) patients and economic evaluations of treatments, revealing a substantial cost burden of standard care for SMA patients and high cost-effectiveness ratios of approved drugs in post-symptomatic patients at current prices. Additional prospective and independent economic studies in pre- and post-symptomatic patients are needed due to the limited number of conducted studies.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Medicine, General & Internal

Risdiplam in Type 1 Spinal Muscular Atrophy

Giovanni Baranello et al.

Summary: In a study involving 21 infants with type 1 spinal muscular atrophy, treatment with oral risdiplam resulted in increased levels of functional SMN protein in the blood. Infants in the high-dose group were more likely to sit without support for at least 5 seconds, and the higher dose of risdiplam was selected for the second part of the study.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Review Pharmacology & Pharmacy

Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities

Laurent Servais et al.

Summary: The current drug treatments for SMA cannot cure the disease, and there remains a significant unmet need for patients treated after symptom onset. Clinical development of new drugs for SMA is challenging due to the heterogeneity of the patient population, variability in response to initial therapy, age at treatment onset, and the requirement to demonstrate added value beyond approved therapeutics.

EXPERT OPINION ON INVESTIGATIONAL DRUGS (2021)

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Article Genetics & Heredity

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Laura Blasco-Perez et al.

Summary: SMN2 gene is a major modifier of spinal muscular atrophy (SMA), and the determination of its copy number is crucial for establishing genotype-phenotype correlations, predicting disease progression, stratifying patients for clinical trials, and defining eligibility for treatment. Intragenic SMN2 variants may affect the amount of SMN transcripts and protein, leading to discordant genotype-phenotype correlations in SMA. This novel method for complete sequencing of the SMN2 gene enables the identification of partial deletions and rare pathogenic variants, providing valuable information for predicting SMA phenotypes.

HUMAN MUTATION (2021)

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Article Clinical Neurology

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

Tamara Dangouloff et al.

Summary: The study provides a global overview on the current situation and perspectives on SMA NBS, pointing out the differences in funding, screening methods, organization, and consent process between countries. Experts expressed a strong need for the implementation of SMA NBS to improve patient care.

NEUROMUSCULAR DISORDERS (2021)

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Article Biochemistry & Molecular Biology