Materiały źródłowe

• #1 Clinical Features, Epidemiology, Natural History, and Management of Spinal Muscular Atrophy – Clinical Review Report: Nusinersen (Spinraza) – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK533981/

  Spinal muscular atrophy (SMA) is a severe neuromuscular disease and is the leading genetic cause of infant death. It is characterized by the degeneration of alpha motor neurons in the anterior horn of the spinal cord, leading to progressive muscle weakness. The most common form of SMA, 5q SMA, makes up more than 95% of all cases and is an autosomal recessive disorder caused by homozygous deletion or deletion and mutation of the alleles of the survival motor neuron 1 (SMN1) gene. SMA is a rare disease and estimates of its incidence and prevalence vary between studies. The incidence of SMA is often cited as being approximately 10 in 100,000 live births. One recent review found estimates ranging from 5.0 to 24 in 100,000 births. Prevalence is estimated to be approximately 1 to 2 in 100,000 persons and is affected by the drastically shortened life expectancy in the most common type of SMA. In summary, 5q SMA is a rare and often debilitating neuromuscular disease that is the leading genetic cause of infant death. The incidence of SMA is approximately 10 in 100,000 live births. The homozygous deletion or deletion and mutation of the SMN1 alleles leads to irreversible and progressive decline in motor function. Variation among patients in the number of copies of the less effective SMN2 gene accounts for part of the wide spectrum of disease severity.

• #2 Spinal Muscular Atrophy: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1181436-overview

  The spinal muscular atrophies are the second most common autosomal-recessive inherited disorders after cystic fibrosis. The acute infantile-onset SMA (type I) affects approximately 1 per 10,000 live births; the chronic forms (types II and III) affect 1 per 24,000 births. SMA types I and III each account for about one fourth of cases, whereas SMA type II is the largest group and accounts for one half of all cases. […] The incidence of spinal muscular atrophy is about 1 in 10,000 live births with a carrier frequency of approximately 1 in 50. […] The mortality and/or morbidity rates of spinal muscular atrophy are inversely correlated with the age at onset. High death rates are associated with early onset disease. In patients with SMA type I, the median survival is 7 months, with a mortality rate of 95% by age 18 months.

• #3 Spinal Muscular Atrophy: Epidemiology and Genetics – HCP SMA News TodayEnvelope iconEnvelope icon

  https://hcp.smanewstoday.com/spinal-muscular-atrophy-epidemiology-and-genetics/

  With an estimated incidence of approximately 1 in 10,00-11,00 live births, Spinal Muscular Atrophy (SMA) is the second most common autosomal recessive cause of death in children in the United States; incidence in European countries may be higher. […] The estimated prevalence of SMA in the United States, Europe, and Australia is less than 9,000 patients. […] SMA presents in five different forms, SMA types 0-4. […] The most prevalent form reported in published studies is SMA type 1 (~55%), followed by SMA types 2 (~30%) and 3 (~15%); SMA types 0 and 4 are extremely rare and represent collectively less than 1% of cases worldwide. […] The carrier frequency for pathogenic variants in a SMA screening database established in New York State with a primarily Caucasian population was 1.5%. […] The observed carrier rate for SMA variants is higher in Asian populations but lower in Black or Hispanic populations.

• #4 Prevalence of Spinal Muscular Atrophy | mySMAteam

  https://www.mysmateam.com/resources/prevalence-of-spinal-muscular-atrophy

  Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by degeneration of the motor nerves in the spinal cords anterior horn. […] Although its a rare disease, SMA is the leading genetic cause of infant deaths. It is also one of the most common genetic disorders to be diagnosed among infants and children, second only to cystic fibrosis. […] Understanding the epidemiology the causes, prevalence, and incidence of SMA can be helpful in learning about the disease. […] Across all types of SMA, it has an incidence rate of between 1 in every 10,000 live births and 1 in every 6,000 births. The prevalence rates are much lower, with 1 in every 100,000 people having SMA. […] The rates of SMA differ by type. Research indicates that SMA type 1 has the highest incidence rates and represents 60 percent of SMA cases.

• #5 What Is Spinal Muscular Atrophy (SMA)? | mySMAteam

  https://www.mysmateam.com/resources/spinal-muscular-atrophy-an-overview

  Spinal muscular atrophy (SMA) occurs in about 1 out of every 11,000 births in the United States. About 1 in 40 to 1 in 60 people in the U.S. is a carrier for the disease, though this rate varies by ethnic and racial background. […] Autosomal recessive proximal SMA is the most common form of SMA, accounting for 95 percent of cases. […] The five main types of SMA comprise 95 percent of SMA cases. All are caused by mutations in the SMN1 gene, and each type is categorized based on the age of onset and severity of symptoms. […] SMA is usually diagnosed through genetic testing. The genetic test for SMA looks for mutations on the SMN1 gene on chromosome 5. […] Beginning in 2018, the U.S. Department of Health and Human Services added SMA to the Recommended Uniform Screening Panel, a list of conditions for which newborns are screened within their first 48 hours of life. Today, all 50 states screen newborns for SMA at birth.

• #6 Cure SMA Publishes Update on the Birth Prevalence of Spinal Muscular Atrophy (SMA) – Cure SMA

  https://www.curesma.org/cure-sma-publishes-update-on-the-birth-prevalence-of-spinal-muscular-atrophy-sma/

  Cure SMA is pleased to announce the publication of Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US in JAMA Pediatrics on July 15, 2024. […] This paper reports the largest data collection of infants with SMA identified by newborn screening in the U.S. The objectives were: 1) to update the estimated birth prevalence of SMA in the U.S., and 2) to evaluate SMN2 copy number distribution in U.S. newborns with SMA identified by newborn screening. […] Previously published literature has estimated that the birth prevalence of SMA was 1 in 10,000. […] This data provided an update on the estimated birth prevalence of SMA in the U.S. to 1 in 14,694 live births. […] Understanding the current birth prevalence of SMA in the U.S. will help support the planning of SMA care and research, as well as anticipate the utilization of SMA care resources and treatments.

• #7 Spinal Muscle Atrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560687/

  SMA incidence has been estimated at 1 in 6000 to 11000, with a carrier frequency in the of mutations in SMN1 of 2 to 3% (1 in 40) in the general population. […] Incidence varies according to ethnicity, with the incidence reported as 8/100,000 for people of white ethnicity when compared with 0.89 in 100,000 for black ethnicity and 0.96/100,000 for those of mixed ethnicity.

• #8 A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources | Canadian Journal of Neurological Sciences | Cambridge Core

  https://www.cambridge.org/core/journals/canadian-journal-of-neurological-sciences/article/study-on-the-incidence-and-prevalence-of-5q-spinal-muscular-atrophy-in-canada-using-multiple-data-sources/73394CA9DA03F920F31857E2CE8C2FA1

  Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and represents a significant burden of care. An improved understanding of the epidemiology of SMA in Canada may help inform strategies to improve the standard of care for individuals living with SMA. […] We employed a multisource approach to estimate the minimal incidence and prevalence of 5q SMA and to gain greater insight into recent clinical practices and treatment trends for the Canadian SMA population. Data sources included the Canadian Paediatric Surveillance Program (CPSP), Canadian Neuromuscular Disease Registry (CNDR), and molecular genetics laboratories in Canada. […] The estimated annual minimum incidence of 5q SMA was 4.38, 3.44, and 7.99 cases per 100,000 live births in 2020 and 2021, based on CPSP, CNDR, and molecular genetics laboratories data, respectively, representing approximately 1 in 21,472 births (range 12,516-29,070) in Canada. SMA prevalence was estimated to be 0.85 per 100,000 persons aged 0-79 years.

• #9 Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations | Communications Medicine

  https://www.nature.com/articles/s43856-024-00548-1

  Spinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including a gene therapy, have become available. SMA incidence has not been well-characterized in most Arab countries where rates of consanguinity are high. Understanding SMA disease epidemiology has important implications for screening, prevention, and treatment in those populations. […] For the first time, we estimate SMA carrier frequency (1.3%) and incidence of the disease (1 in 7122 live births) in the United Arab Emirates. […] The SMA carrier frequency and incidence we document suggests high potential benefit for universal implementation of premarital genomic screening for a wide range of recessive disorders in Arab populations. […] SMA is globally the second most common fatal autosomal recessive disorder.

• #10 Spinal Muscular Atrophy Market Analysis | SMA Epidemiology & Therapies

  https://www.delveinsight.com/blog/spinal-muscular-atrophy-market

  Spinal Muscular Atrophy is the second most common fatal autosomal recessive disorder affecting 1 in 10,000 live births. According to DelveInsights estimates, the Spinal Muscular Atrophy Prevalence in 7 Major Markets (MM) was 19,343 in 2017. Geography-specific data revealed a total of 13,036 people were living with SMA in the United States. However, the Spinal Muscular Atrophy Prevalence in European countries was a bit higher. Germany had the maximum population suffering from SMA closely followed by the UK. The Spinal Muscular Atrophy Diagnosed prevalent population in 7MM was 17,094 in 2017. The diagnosed prevalent population of Spinal Muscular Atrophy in 7MM is expected to increase at a Compound Annual Growth Rate (CAGR) of 0.88% for the study period, i.e. 2017-2028. […] The total Spinal Muscular Atrophy US market size was USD 892.37 Million in 2017. DelveInsights analysts estimated that the market is expected to show positive growth, mainly attributed to an increase in Spinal Muscular Atrophy diagnosed prevalence and also, due to the launch of upcoming therapies during the forecast period.

• #11 A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources | Canadian Journal of Neurological Sciences | Cambridge Core

  https://www.cambridge.org/core/journals/canadian-journal-of-neurological-sciences/article/study-on-the-incidence-and-prevalence-of-5q-spinal-muscular-atrophy-in-canada-using-multiple-data-sources/73394CA9DA03F920F31857E2CE8C2FA1

  As of July 1, 2022, CNDR reported a total of 299 cases of 5q SMA. A 5q SMA point prevalence of 0.85 cases per 100,000 persons aged 0-79 years was observed, or approximately 1 in 118,026 persons. Prevalence estimates were higher among the younger age groups (0-29 years of age) with a point prevalence range of 1.1 to 2.12 cases per 100,000 persons. […] This study provides estimates on the annual minimum incidence of pediatric 5q SMA using three Canadian-based data sources, as well as information on the prevalence, the clinical features, and current therapies for patients with SMA. Newborn screening will become increasingly important in providing population estimates on the incidence of 5q SMA across Canada.

• #12 Spinal muscular atrophy – UpToDate

  https://www.uptodate.com/contents/spinal-muscular-atrophy

  Spinal muscular atrophy (SMA) is characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem, which results in progressive muscle weakness and atrophy. […] The incidence of spinal muscular atrophy ranges from 5 to 13 per 100,000 live births, and the carrier frequency of disease-causing SMN1 mutations ranges from 1:100 to 1:45, with marked interethnic variability. SMA is the most common monogenic cause of infant mortality.

• #13 SMA Foundation | About SMA

  https://smafoundation.org/about-sma/

  Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The disease generally manifests early in life and is the leading genetic cause of death in infants and toddlers. […] SMA has generally been believed to affect as many as 10,000 to 25,000 children and adults in the United States, and therefore it is one of the most common rare diseases. One in 6,000 to one in 10,000 children are born with the disease. One in 40 to one in 50 people (approximately 6 million Americans) are carriers of the SMA gene. […] If both parents are carriers of the SMA gene, then each of their children has a 1 in 4 chance of having the disease. […] SMA has multiple forms which vary in severity. The most severe form (Type I) manifests before 6 months of age and generally results in death before age two.

• #14 Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8

  The results show that the highest frequencies are found in Caucasian and Asian populations (around 1 in 50) and the lowest in Black (1 in 100) and Hispanics (1 in 76) populations. […] The incorporation of estimated carrier risks for people with a 2 copy number result, generates only a slightly lower incidence (~1 in 54) for the Black populations compared to most other populations (~1 in 45), due to presence of a much higher number of multiple SMN1 copy number alleles in this population.

• #15 Prevalence of Spinal Muscular Atrophy | mySMAteam

  https://www.mysmateam.com/resources/prevalence-of-spinal-muscular-atrophy

  Because of this, types 2 and 3 have overall higher prevalence rates, although they develop less frequently than type 1. […] Carrier frequency studies show that within the United States, there is a slight difference between SMN1 deletion carriers based on race and ethnicity. […] Note that these rates refer to carriers only, not people who have SMA. […] Although much research has been limited to European countries or populations within the United States, a recent study conducted in China estimated that the carrier frequency of SMA is about 1 in 50 individuals (2 percent). […] An additional epidemiological study of SMA in sub-Saharan Africa found that Malians had a carrier frequency of 1 in 209 individuals (0.48 percent).

• #16

  https://journals.lww.com/md-journal/fulltext/2020/01310/the_prevalence_of_spinal_muscular_atrophy_carrier.75.aspx

  Spinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There had been no detailed study to characterize the prevalence of SMA carrier among people in China. So, we conducted a systematic review and meta-analysis to obtain a reliable estimation of the prevalence of SMA carrier to characterize its epidemiology for the first time. […] A total of 10 studies published between 2005 and 2016 were included in our analysis at last. The random effect models of meta-analysis showed that the overall carrier rate of SMA was 2.0% (95% confidence interval [CI], 1.7%2.3%) in a heterogeneous set of studies (I2 = 64%). There was a gradual rise trend observed in the SMA carrier rate during the study period. […] The overall carrying rate of SMA was high as 2.0% and may be on a slow upward trend. So it was recommended that the countries should take active and effective measures to roll out routine prenatal screening and health genetic counseling for SMA as early as possible.

• #17 Spinal Muscular Atrophy: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1181436-overview

  The spinal muscular atrophies are the second most common autosomal-recessive inherited disorders after cystic fibrosis. The acute infantile-onset SMA (type I) affects approximately 1 per 10,000 live births; the chronic forms (types II and III) affect 1 per 24,000 births. SMA types I and III each account for about one fourth of cases, whereas SMA type II is the largest group and accounts for one half of all cases. […] The incidence of spinal muscular atrophy is about 1 in 10,000 live births with a carrier frequency of approximately 1 in 50. […] The mortality and/or morbidity rates of spinal muscular atrophy are inversely correlated with the age at onset. High death rates are associated with early onset disease. In patients with SMA type I, the median survival is 7 months, with a mortality rate of 95% by age 18 months.

• #18 Orphanet: Proximal spinal muscular atrophy type 2

  https://www.orpha.net/en/disease/detail/83418

  A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. […] In Europe the average prevalence at birth of proximal spinal muscular atrophy (SMA) type 2 is estimated at 1/50,000. Worldwide the prevalence ranges from 1/11,00-175,000. […] Prevalence: 1-9 / 100 000. […] Life expectancy for affected individuals is variable but, with the new standards of care, particularly for respiratory insufficiency, the majority of patients survive up to adulthood.

• #19 Orphanet: Proximal spinal muscular atrophy type 4

  https://www.orpha.net/en/disease/detail/83420

  The average prevalence at birth of proximal spinal muscular atrophy (SMA) is estimated at 1/12,000 of which approximately 1% are type 4. […] Affected individuals have a normal life expectancy. The greatest morbidity is on quality of life, with impairment of daily activities. Some patients may lose the ability to walk.

• #20 Spinal Muscle Atrophy: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1264401-overview

  A 2024 study by Belter et al found that the birth prevalence of SMA in the United States was about 1 case in 14,694 live births. […] The prevalence of persons with the carrier state has been found to be about 1 in 50. SMA can affect any race or gender. […] In a study from North Dakota, the incidence was about 1 case in 6720 (15 per 100,000) live births, the prevalence was 1.5 cases in 10,000, and the prevalence of persons with the Werdnig-Hoffman disease carrier state was 1 in 41. […] SMA appeared to be three to 10 times more common in North Dakota than in other areas. […] SMA is the most common degenerative disease of the nervous system in children. After cystic fibrosis, it is the second most common disease inherited in an autosomal recessive pattern that affects children. […] The incidence of SMA has generally been higher in Central and Eastern Europe than in Western Europe.

• #21 Spinal Muscle Atrophy: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1264401-overview

  In England, the incidence has been reported to be 1 case in 24,100 (4 per 100,000) live births, with a prevalence of 1.2 cases per 100,000 population. […] In Italy, the incidence has been reported to be 7.8 cases in 100,000 live births (all types). […] In Germany, the incidence of Werdnig-Hoffmann disease has been reported to be 1 case in 10,202 (9 per 100,000) live births. […] The incidence of SMA in Slovakia has been reported to be 1 case in 5631 (18 per 100,000) live births (all types). […] In Poland, the incidence of Werdnig-Hoffmann disease has been reported to be 1 case in 19,474 (5 per 100,000) live births. […] The three different types of SMA that occur in the pediatric population are genetically similar but differ with respect to patient age at presentation and clinical course, as follows: Type I (Werdnig-Hoffmann disease) – This acute infantile SMA is usually identified in patients from birth to age 6 months; it is the most severe and common form of the disease, accounting for 60% of all cases of SMA, and it is often fatal early in life.

• #22 Spinal muscular atrophy: epidemiology and health burden in children — a Polish national healthcare database perspective before introduction of SMA-specific treatment | Kostera-Pruszczyk | Neurologia i Neurochirurgia Polska

  https://journals.viamedica.pl/neurologia_neurochirurgia_polska/article/view/PJNNS.a2021.0074

  Spinal muscular atrophy (SMA) is one of the most frequent autosomal recessive neuromuscular disorders. It leads to progressive muscle weakness, premature death or permanent ventilation. Significant disability, scoliosis, severe pulmonary infections and other problems require in- and outpatient medical care. Various approaches have been used to evaluate SMA epidemiology, healthcare burden and adherence to standard of care. The recent introduction of pharmacological treatment in a large SMA population will change the course of the disease and the healthcare requirements of patients. […] 51 new SMA cases (incidence 1:7,356) and 518 SMA patients younger than 18 were identified in 2014. 32 (6.2%) deaths were recorded, half in the first two years of life. 35 (6.8%) patients received palliative and 115 (22.2%) long-term care (including assisted ventilation). A total number of 3,057 days of hospital stay were reported. Only 65/518 (12.6%) patients did not receive publicly-funded healthcare service other than specialist or general practitioners consultation. […] SMA caused significant mortality and morbidity in children. The National Health Fund database can be used to reliably record incident cases and track the care provided to paediatric SMA patients.

• #23

  https://link.springer.com/article/10.1007/s12325-024-02852-7

  Spinal muscular atrophy (SMA) is a rare, autosomal recessive, neuromuscular disease that leads to progressive muscular weakness and atrophy. Nusinersen, an antisense oligonucleotide, was approved for SMA in China in February 2019. […] In mainland China, the incidence of SMA is reported as approximately 14 per 100,000 live births or 1338 births annually. […] PANDA adds to this limited body of evidence. The data are consistent with studies showing efficacy and overall safety of nusinersen in children with type I and II SMA. […] The interim analysis of the PANDA data is consistent with previous clinical study experience and supports continuing PANDA and evaluation of nusinersen in people with SMA in China.

• #24 Spinal Muscle Atrophy: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1264401-overview

  Type II – This chronic infantile SMA is diagnosed in infants aged 6-24 months. […] Type III (Kugelberg-Welander disease) – This type of SMA is diagnosed in children aged 2-15 years. […] Males are more commonly affected with SMA than females are. The male-to-female ratio is 2:1. […] The clinical course in males is more severe. […] The incidence of SMA in Black Africans is very low.

• #25 Spinal Muscular Atrophy: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1181436-overview

  Male individuals are most frequently affected, especially with the early-onset forms of spinal muscular atrophy, ie, types I and II. […] The ISMAC classification system is based on the age of onset. According to the ISMAC system, the age of onset for spinal muscular atrophies is as follows: SMA type I (acute infantile or Werdnig Hoffman): Onset is from birth to 6 months; SMA type II (chronic infantile): Onset is between 6 and 18 months; SMA type III (chronic juvenile): Onset is after 18 months; SMA type IV (adult onset): Onset is in adulthood (mean onset, mid 30s).

• #26 A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources | Canadian Journal of Neurological Sciences | Cambridge Core

  https://www.cambridge.org/core/journals/canadian-journal-of-neurological-sciences/article/study-on-the-incidence-and-prevalence-of-5q-spinal-muscular-atrophy-in-canada-using-multiple-data-sources/73394CA9DA03F920F31857E2CE8C2FA1

  This study provides data on the annual minimum incidence of pediatric 5q SMA in Canada. Recent therapeutic advances and newborn screening have the potential to drastically alter the natural history of SMA. Findings underline the importance of ongoing surveillance of the epidemiology and long-term health outcomes of SMA in the Canadian population. […] Surveillance is an integral aspect of public health. Active surveillance of rare diseases, like SMA, leads to a greater understanding of the epidemiology of the disease. Accordingly, the objectives of the study were to: (1) determine the minimum incidence of 5q SMA from 3 independent Canadian sources; (2) determine the prevalence of 5q SMA in Canada; and (3) describe the clinical features and current treatment approaches for 5q SMA patients across Canada.

• #27 Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8

  Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 12 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. […] Most published studies are outdated and therefore rely on clinical rather than genetic diagnosis. […] More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes. […] To date, only a few studies have been performed to assess the prevalence and incidence of SMA. Most of these have been conducted before 1995, when the disease causing gene was identified, therefore using clinical rather than genetic diagnosis as an inclusion criterion. Generally, an estimation of the incidence of all types of SMA of around 10 in 100,000 (1 in 10,000) live births is cited.

• #28 Spinal Muscular Atrophy (SMA) | PM&R KnowledgeNow

  https://now.aapmr.org/spinal-muscular-atrophy-sma/

  Spinal muscular atrophy disorders affect 1/6000 to 1/10,000 infants, with a carrier frequency in the general population of 1/40. […] SMA type 1 (SMA-1) is the most common type (60%-70% of all patients with SMA), followed by SMA-2 (20%-30%) and SMA-3 (10%-20%). […] The homozygous deletion of SMN1 is essentially 100% specific for the diagnosis of SMA. […] Prenatal screening by chorionic villus sampling or amniocentesis is available and can potentially be used to catch the diagnosis early in a hypotonic infant in-vitro.

• #29 About SMA for Healthcare Providers – Cure SMA

  https://www.curesma.org/about-sma-for-hcps/

  A simple blood test can confirm whether an individual has a mutation that causes SMA. […] Respiratory problems are primary causes of illness and the most common cause of death for individuals with SMA Type 1 and 2. […] Patients with SMA are more susceptible to suffering from under- or over-nutrition, and this can have a significant impact. […] Muscle weakness in SMA will vary for each individual depending on the disease severity. […] It is important for families to plan for how to prevent emergencies.

• #29 About SMA for Healthcare Providers – Cure SMA

  https://www.curesma.org/about-sma-for-hcps/

  Spinal muscular atrophy (SMA) is a genetic, progressive neurodegenerative disease characterized by weakness of the skeletal and respiratory muscles. […] Evidence shows early diagnosis and treatment, like via newborn screening, leads to better outcomes. […] Early diagnosis makes a difference. SMA is often diagnosed on a clinical basis by how a child appears physically. […] A thorough medical history is performed, and a primary care provider may order genetic testing through a blood sample. […] Proper care improves quality of life for those with SMA. […] Usual primary care practiceespecially care coordination, support, and routine care including immunizations, developmental surveillance, and monitoring of growthcontribute to the overall well-being of patients. […] In 2007, the Journal of Child Neurology published the Consensus Statement for the Standard of Care in SMA.

• #30 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. […] Although SMA is thought of as uncommon, its the second most common severe hereditary disease of infancy and childhood after cystic fibrosis. Researchers estimate that it affects between 1 in 6,000 to 1 in 11,000 live births. SMA is about twice as common in white and Asian people as it is in Black and Hispanic people. […] If your provider suspects SMA, the main test that can confirm it is genetic testing. This blood test can confirm 95% of SMA cases by identifying problems with the SMN1 gene. Each of the 50 U.S. states now routinely screens newborns for SMA. […] Given the availability of these treatments, theres now routine screening of newborns for SMA in the United States.

• #31 Research – Spinal Muscular Atrophy (SMA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/spinal-muscular-atrophy/research

  SMA is largely caused by a deletion of a section in the SMN1 gene, called exon 7. […] The higher the number of SMN2 copies, the milder the SMA disease course and the later the disease onset. […] But in any case, early treatment is a game changer in the course of the disease as it can completely alter the prognosis. Early diagnosis and treatment is crucial. […] Because Spinraza (nusinersen), a disease-modifying therapy, was approved by the FDA in 2016, SMA could enter the list of diseases recommended for screening at birth. […] On July 2, 2018, the secretary of the US Department of Health and Human Services approved the recommendation to adopt SMA for newborn screening. […] One area of active research within the SMA field is to identify biomarkers that could be used to indicate how SMA patients are progressing and whether they are responding to a potential treatment. […] SMA biomarkers are currently being evaluated in the NIH NeuroNEXT clinical trial, titled SMA Biomarkers in the Immediate Postnatal Period of Development.

• #32 Spinal Muscular Atrophy Market Opportunity Assessment and Forecast to 2033

  https://www.globaldata.com/store/report/spinal-muscular-atrophy-market-analysis/

  The Spinal Muscular Atrophy (SMA) market across the 7MM (the US, France, Germany, Italy, Spain, the UK, and Japan) was valued at $2.7 billion in 2023 and the market will grow at a CAGR of more than 1% from 2023 to 2033. The SMA market research report offers an overview of epidemiology, symptoms, diagnosis, and disease management. […] With the availability of NBS across the 7MM, earlier diagnosis of SMA and disease detection and treatment during the pre-symptomatic stage has become convenient in recent years. […] The key countries in the SMA market are the US, France, Germany, Italy, Spain, the UK, and Japan In 2023, the United States accounted for the highest share of the total SMA market. […] Overview of spinal muscular atrophy (SMA), including epidemiology, symptoms, diagnosis, and disease management. […] Diagnosed Prevalent Cases of SMA (All Types), Men and Women, All Ages, 2023. […] Sources and Methodology for Diagnosed Prevalent Cases of SMA by Type.

• #33 SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060113

  Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting progression, (ii) designing trials that allow rapid assessment of candidate therapies, and (iii) understanding molecular causes and consequences of the disease. Validated biomarkers of SMA motor and non-motor function would offer utility in addressing these challenges. Our objectives were (i) to discover additional markers from the Biomarkers for SMA (BforSMA) study using an immunoassay platform, and (ii) to validate the putative biomarkers in an independent cohort of SMA patients collected from a multi-site natural history study (NHS). […] 12 of the 35 putative SMA biomarkers were significantly associated (p0.05) with motor function, with a 13th analyte being nearly significant. Several other analytes associated with non-motor SMA outcome measures. From these 35 biomarkers, 27 analytes were selected for inclusion in a commercial panel (SMA-MAP) for association with motor and other functional measures.

• #34 SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060113

  Discovery and validation using independent cohorts yielded a set of SMA biomarkers significantly associated with motor function and other measures of SMA disease activity. A commercial SMA-MAP biomarker panel was generated for further testing in other SMA collections and interventional trials. Future work includes evaluating the panel in other neuromuscular diseases, for pharmacodynamic responsiveness to experimental SMA therapies, and for predicting functional changes over time in SMA patients. […] The association of the 35 biomarkers with non-motor SMA outcome measures was also examined: pulmonary function (FVC), electrophysiology (CMAP and MUNE), quality of life (PedQL), and myometric strength measures of elbow flexion (MyoEF), elbow extension (MyoKE), and knee flexion (MyoKF). The top 13 motor function biomarkers were in general poorly associated with the non-motor outcomes with R2-values ranging from 0 to 0.36. However, other analytes were associated with non-motor outcomes; these were either previously identified as motor function markers in BforSMA, or were altogether novel markers.

• #35 SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060113

  27 analytes were selected for inclusion into a new biomarker panel, called SMA-MAP. The 13 analytes that regressed to motor outcomes of SMA in both the BforSMA and PNCR NHS studies were included. An additional 12 SMA-MAP analytes (AHSG, APOB, CCL2, CFH, CLEC3B, CRP, CTSD, ENG, ERBB2, FBLN, IFBP6, PGF, TNXB) were motor regressors from the BforSMA analysis and/or related to non-motor outcomes. Lastly, IGF1 was included due to the reported disruption of the IGF pathway in SMA models and human muscle as well as interest in IGF1 therapy for SMA. […] The SMA-MAP is the culmination of a biomarker discovery campaign testing nearly 1000 plasma proteins, performed in multiple patient sample sets and quantitation technologies, and is ready for further validation to determine the extent of its utility in clinical research and trials.

• #36 In Search of Spinal Muscular Atrophy Disease Modifiers

  https://www.mdpi.com/1422-0067/25/20/11210

  The 5q Spinal Muscular Atrophy (SMA) is a hereditary autosomal recessive disease caused by defects in the survival motor neuron (SMN1) gene encoding survival motor neuron (SMN) protein. Currently, it is the leading cause of infantile mortality worldwide. […] The pan-ethnic incidence of SMA is estimated to be ~1:11 000 in live births globally. The carrier frequency for SMA is different in different populations, and racial and ethnic groups, and ranges between 1:25 and 1:50. […] The so-called “classic” SMA, accounting to ~94–96% of cases, is caused by large deletions within the survival motor neuron 1 gene (SMN1, HGNC:11117, OMIM:*600354) or by a gene conversion from SMN1 to its paralogue, survival motor neuron 2 gene (SMN2, HGNC:11118, OMIM *601627). […] There is a well-known phenomenon of the existence of unaffected individuals with homozygous deletions within the SMN1 gene. Several so-called discordant SMA families have been described so far, with siblings having the same homozygous defects within the SMN1 gene, but strikingly different phenotypes, including the absence of SMA symptoms, supposedly due to the impact of DMs.

• #37 Spinal muscular atrophy (SMA) – Muscular Dystrophy UK

  https://www.musculardystrophyuk.org/conditions/a-z/spinal-muscular-atrophy-sma/

  Spinal Muscular Atrophy (SMA) is a rare, genetically inherited neuromuscular condition. […] The most common form of SMA is known as 5q SMA due to its genetic cause. […] Evidence suggests that since the International Standards of Care for SMA introduced more proactive managements in 2007, children have been living longer. […] At the population level, the severity of SMA is linked to how much SMN protein is made; there is therefore a general relationship between the number of SMN2 copies (SMN2 copy number) and the likely severity of SMA symptoms. […] 5q SMA is passed from parents to their children through faulty SMN1 genes. It usually follows an autosomal, recessive pattern of inheritance. […] In around 2% of cases of SMA, the mutation is new in the affected person, most likely due to an error in making the egg or sperm cell from which they were conceived. This is called a de novo mutation. […] It is also now recommended that the number of SMN2 copies is also assessed as this can be a helpful indicator of what effects the condition will have.

• #38 In Search of Spinal Muscular Atrophy Disease Modifiers

  https://www.mdpi.com/1422-0067/25/20/11210

  The key findings on SMA modifiers have been summarized in several relatively recent comprehensive reviews, once again highlighting the importance of the subject. However, since their publication, many works have broadened our knowledge on the subject; they will be discussed in this review in detail, alongside previously reviewed ones. […] The possibility exists that “extra copies” of SMN2 in some individuals might be epigenetically silenced (via DNA methylation or via post-transcriptional modification of histones), whereas in some individuals with the same copy number of SMN2, all copies might be transcriptionally active. […] Thus, the identification of novel targets for complementary therapies is needed.

• #39

  https://www.ispor.org/heor-resources/presentations-database/presentation/euro2024-4016/141738

  Considering the growing number of prescriptions of innovative therapies for Spinal Muscular Atrophy (SMA) (nusinersen [2017], onasemnogene abeparvovec [2019] and risdiplam [2020]) in France, the EPI-SMA study aimed to provide real-world data on the epidemiology, management of therapeutic options, patient journeys, costs and impact on overall survival from 2011 up to 2022. […] A total of 1,450 patients were codified as SMA in the SNDS, including 703 incident cases between 2011 and 202: 377 SMA1-like, 130 SMA2-like and 196 SMA3-like. […] This real-world study confirms that SMA therapies have significantly impacted the healthcare pathways of SMA patients, particularly those with the most severe patients (SMA1-like), and have contributed to increased overall survival.

• #40 Adult-onset spinal muscular atrophy: Symptoms, causes, and more

  https://www.medicalnewstoday.com/articles/adult-onset-spinal-muscular-atrophy

  Adult-onset spinal muscular atrophy (SMA) is a rare neuromuscular disorder that primarily affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. […] Adult-onset SMA (type 4) is the rarest form, accounting for fewer than 5% of all people with SMA. Symptoms usually manifest after age 18 years, with many developing symptoms in the second or third decade of life. […] SMA is a relatively rare genetic disorder, with different types varying in their prevalence. […] The later age of onset of spinal muscular atrophy is when a person is over 18 years old. Many people with SMA develop symptoms in the second or third decade of life, sometimes even later. This is known as adult-onset SMA (type 4). […] Life expectancy varies depending on the type. Type I (infantile onset) has a significantly reduced life expectancy, with people often not surviving past early childhood without treatment. Types 2 and 3 have a variable life expectancy, often into adulthood. People with adult-onset SMA generally have a near-normal life expectancy, especially with proper management and treatment. […] Adult-onset SMA (type 4) is a rare genetic disorder that causes gradual muscle weakness and atrophy, typically starting after age 18.

• #41 An Overview of the Epidemiology of SMA

  https://www.ajmc.com/view/an-overview-of-the-epidemiology-of-sma

  Spinal muscular atrophy is a genetic monogenic disease, and its inherited in an autosomal recessive manner. The disease is caused by a mutation in the SMN1, survival motor neuron 1, gene. The incidence of SMA is about 1 in 10,000. This is a rare disease overall, so with the newborn screening, we’re going to learn a whole new epidemiology and incidence prevalence. It’s important to remember that most of the new cases are either type 1 or type 2, but due to the very severe morbidity and mortality in babies with type 1 and type 2, the prevalent cases that we follow in our clinic are actually mostly types 2 and 3. Surviving patients with SMA tend to be types 2 and 3. It’s a recessive disease, so about 1 in 50 people in the population are carriers for the SMA gene defect. […] SMA is by definition a rare disease. The FDA defines a rare disease as anything that affects fewer than 200,000 people. In a way, it’s ultra-rare, because we’re talking about a prevalence overall of about 10,000 to 12,000 people in the United States.

• #42 Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations | Communications Medicine

  https://www.nature.com/articles/s43856-024-00548-1

  We estimate the disease burden or incidence of SMA in the UAE. Using data from the UAE and Saudi Arabia, we demonstrate that, in addition to potentially preventing new SMA cases, premarital screening and subsequent PGT/IVF for at-risk couples, can be a highly cost-effective measure from a public health standpoint, leading to an expected 14 to 28-fold cost reduction compared to postnatal disease treatment.

• #43 Spinal Muscular Atrophy (SMA) Market Research Reports, Industry Insights – GlobalData

  https://www.globaldata.com/store/industry/spinal-muscular-atrophy-sma-market/

  Discover unique market-leading data and insights into the Spinal Muscular Atrophy (SMA) market. From the latest Spinal Muscular Atrophy (SMA) industry reports and analysis to comprehensive market growth forecasts, trends and research. […] A total of 230 spinal muscular atrophy (SMA) clinical trials have been conducted as of July 2024. The spinal muscular atrophy (SMA) clinical trial report provides a comprehensive understanding of the spinal muscular atrophy (SMA) clinical trial scenario across regions, and countries (G7 E7), along with insights into the various phases, trial status, and end points status. […] The Spinal Muscular Atrophy (SMA) market across the 7MM (the US, France, Germany, Italy, Spain, the UK, and Japan) was valued at $2.7 billion in 2023 and the market will grow at a CAGR of more than 1% from 2023 to 2033. […] Spinal muscular atrophy (SMA) is a group of inherited neuromuscular disorders. These disorders are clinically and genetically heterogeneous. The primary feature is the loss of lower motor neurons in the spinal cord. This results in progressive muscle weakness, muscle wasting, and low muscle tone.

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