1st Italian SMA Family Association Consensus Meeting:

Sansone, Valeria; Racca, Fabrizio; Ottonello, Giancarlo; Vianello, Andrea; Berardinelli, Angela; Crescimanno, Grazia; Casiraghi, Jacopo

doi:10.1016/j.nmd.2015.09.009

Cited by 34 publications

(18 citation statements)

References 57 publications

(95 reference statements)

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“…Stratification of SMA III by subtype suggested respiratory function in type IIIa SMA was similar to SMA type II whilst respiratory function in type IIIb and IV patients was comparable to age-matched healthy controls [33,57]. Despite this and consensus on recommendations for the monitoring and initiation of respiratory support [1,59], respiratory management remains variable [17,60]. Recommendations for rehabilitation therapy such as physical therapy were described in the 2018 standards of care' [3], yet the effect of these recent guidelines in the care of people with SMA is not yet known.…”

Section: Clinical Managementmentioning

confidence: 99%

Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

Wan

Carey

D’Silva

et al. 2020

Orphanet J Rare Dis

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Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease that has a substantial and multifaceted burden on affected adults. While advances in supportive care and therapies are rapidly reshaping the therapeutic environment, these efforts have largely centered on pediatric populations. Understanding the natural history, care pathways, and patient-reported outcomes associated with SMA in adulthood is critical to advancing health policy, practice and research across the disease spectrum. The aim of this study was to systematically review research investigating the healthcare, well-being and lived experiences of adults with SMA. Methods: In accordance with the Preferred Reported Items for Systematic Reviews and Meta-Analysis guidelines, seven electronic databases were systematically searched until January 2020 for studies examining clinical (physical health, natural history, treatment) and patient-reported (symptoms, physical function, mental health, quality of life, lived experiences) outcomes in adults with SMA. Study risk of bias and the level of evidence were assessed using validated tools. Results: Ninety-five articles met eligibility criteria with clinical and methodological diversity observed across studies. A heterogeneous clinical spectrum with variability in natural history was evident in adults, yet slow declines in motor function were reported when observational periods extended beyond 2 years. There remains no high quality evidence of an efficacious drug treatment for adults. Limitations in mobility and daily activities associated with deteriorating physical health were commonly reported, alongside emotional difficulties, fatigue and a perceived lack of societal support, however there was no evidence regarding effective interventions. Conclusions: This systematic review identifies the many uncertainties regarding best clinical practice, treatment response, and long-term outcomes for adults with SMA. This comprehensive identification of the current gaps in knowledge is essential to guide future clinical research, best practice care, and advance health policy with the ultimate aim of reducing the burden associated with adult SMA.

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Section: Clinical Managementmentioning

confidence: 99%

Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

Wan

Carey

D’Silva

et al. 2020

Orphanet J Rare Dis

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“…Несмотря на распространенность заболевания, даже в развитых евро пейских странах единые рекомендации по ведению СМА пациентов были созданы только в 2015 г. (Италия) [3].…”

Section: актуальность темыunclassified

“…Основными причинами летальности и ухудшения ка чества жизни является развитие вторичной дыхательной недостаточности [3,4,21,22]. Отсутствие в Украине еди ного стандарта по проведению респираторной терапии (РТ) у таких пациентов приводит к тому, что при развитии и про грессировании дыхательной недостаточности СМАпаци енты либо надолго остаются привязанными к больничной койке, либо остаются наедине с заболеванием дома.…”

Section: актуальность темыunclassified

“…Респираторная поддержка пациентов со СМА 2го типа необходима для обеспечения качества и продления их жизни [10]. При нарушении дыхания во сне следует при менять неинвазивную вентиляцию легких (НИВЛ), а при снижении продуктивности кашля -использовать вспо могательные техники откашливания [3][4][5][6][7][8][9]. Согласно Айус [11] 38 % из 100 пациентов со СМА 2го типа потребо валась НИВЛ, а 15 % была проведена трахеостомия.…”

Section: респираторная терапия при сма 2-го типаunclassified

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Review of respiratory therapies in patients with spinal muscular atrophy

Artemenko¹,

Plotna²

2018

prmd

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The purpose of this article was to systematize available literary data and to provide general recommendations for respiratory therapy in patients with spinal muscular atrophy. Spinal muscular atrophy (SMA) is a severe neuromuscular disease with autosomal recessive inheritance with degeneration of alpha motor neurons in the anterior horns of the spinal cord, leading to progressive proximal muscle weakness and paralysis. SMN 1–2 genes potentially encode identical proteins, although most of the transcripts of the SMN1 genes are halfsized, whereas most transcripts of the SMN2 genes do not contain the seventh exon. Therefore, the SMN2 gene is only partially functional, and a low-level SMN protein is produced in SMA patients. Moreover, the number of copies of the SMN2 can not be considered an exact predictive factor for any particular patient. The main causes of mortality and deterioration in the quality of life are the development of secondary respiratory failure. Type 1 (a, b, c) is the heaviest: early onset and lack of motor abilities, usually patients with a disease of this type survive no more than 2 years. Type 2 – an intermediate type characterized by a later onset, the patient may take a sedentary position, survival may reach the adult height. Type 3 is the softest form that manifests itself at the age of 1 year, the patient can walk and stand. The forecast is more favorable. Type 4 “adult form” manifests itself at the age from 10 to 20 or from 20 to 30 years and has a favorable outlook. The main causes of respiratory failure in patients with neuromuscular diseases are weakness of the respiratory muscles, unproductive cough and sleep disturbances. The weakness of the respiratory muscles, defined as the inability of resting respiratory muscles in the state of rest to create a normal level of pressure and air flow velocity when entering and exhaling, is common. Patients with neuromuscular diseases are susceptible to sleep disruption, especially in the REM sleep phase, with the most frequent form of this disorder being hypoventilation. Over time, hypoventilation in a dream can become more prolonged, resulting in the development of a severe form of hypoxia, an increase in the level of carbon dioxide in the blood and the suppression of the activity of the respiratory center. Thus, as a result of the review of literary data, a strategy of respiratory support in patients with CMA was proposed.

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“…Wydaje się, że względu na różnice kulturowe zalecenia te winny być wypracowywane lokalnie. Tak stało się w przypadku Włoch, gdzie organizacja pacjentka doprowadziła do powstania jednolitych zaleceń odnośnie wprowadzenia oddechu wspomaganego i stosowanych procedur [21].…”

Section: Problemy Etyczne I Opieka Paliatywnaunclassified

Spinal muscular atrophy – novel therapies, new challenges

Jędrzejowska¹,

Kostera‐Pruszczyk²

2017

Child Neurology

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STRESZCZENIERdzeniowy zanik mięśni jest postępującą chorobą neurodegeneracyjną, w przebiegu której dochodzi do utraty motoneuronów rdzenia kręgowego, a w konsekwencji osłabienia i zaniku mięśni. Choroba charakteryzuje się bardzo dużą zmiennością przebiegu klinicznego -od letalnej formy wrodzonej po postać dorosłą, o średniej przeżycia jak w populacji ogólnej. Choroba związana jest z mutacjami genu SMN1. Liczba kopii bliźniaczo podobnego genu SMN2 warunkuje nasilenie objawów klinicznych. Analizy ostatnich lat zaowocowały weryfikacją aktualnej klasyfikacji, poprawą standardów opieki, poznaniem przebiegu historii naturalnej choroby. W zderzeniu z nowymi badaniami nad podłożem molekularnym i patogenezą choroby możliwe stało się podjęcie prób terapeutycznych. Badania kliniczne wykazały skuteczność nusinersenu (anysensowny oligonukleotyd), i doprowadziły do rejestracji leku do leczenia SMA. Najlepsze efekty uzyskano u pacjentów, u których włączono leczenie w okresie przedobjawowym. Trwają badania nad kolejnymi substancjami, których działanie oparte jest o różnorodne strategie-począwszy od terapii genowej (AVXS101), przez mikromolekuły modyfikujące składanie pre-mRNA SMN2 (LMI070, RG7916), po neuroprotektory (Olesoxime) i wiele innych. W pracy dokonujemy przeglądu najnowszych danych dotyczą-cych klasyfikacji, historii naturalnej, standardów opieki i prób terapeutycznych. Wczesne rozpoznanie i leczenie może zmienić historię naturalną choroby. Dlatego tak ważne wydaje się wczesne rozpoznanie, a w przyszłości być może wprowadzenie skriningu noworodkowego. Słowa kluczowe: SMA 5q, białko SMN, terapia. ABSTRACTSpinal muscle atrophy (SMA) is a progressive neurodegenerative disease that results in the loss of motoneurons in the spinal cord and, consequently, in muscle weakness and atrophy. The disease is characterized by high variability of the clinical course -from the early neonatal form to the adult form, with the average survival as in the general population. The disease is caused by mutations in the SMN1 gene. The number of copies of a similar SMN2 gene determines the severity of clinical symptoms. Recent analyzes allowed to verify current classification, improve care standards, learn the natural history of SMA. Clinical studies showed the efficacy of nusinersen (an antysense oligonucleotide) and led to the registration of the drug for SMA treatment. The best results were seen in presymptomatic patients. Research is underway on substances that are based on a variety of strategies, from gene therapy (AVXS101) to SMN2 pre-mRNA modulation micronucleus (LMI070, RG7916) to neuroprotectants (Olesoxime) and many others. We review the latest data on classification, natural history, care standards and therapeutic trials. Early diagnosis and treatment can change the natural history of the disease. That is why it is so important to have an early diagnosis and, perhaps, a neonatal screening in the future.

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1st Italian SMA Family Association Consensus Meeting:

Cited by 34 publications

References 57 publications

Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

Review of respiratory therapies in patients with spinal muscular atrophy

Spinal muscular atrophy – novel therapies, new challenges

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