Management of Spinal Muscular Atrophy in the Adult Population

Rad, Nassim; Cai, Haibi; Weiss, Michael D.

doi:10.1002/mus.27519

Cited by 12 publications

(12 citation statements)

References 156 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Greater awareness of such symptoms (e.g. through proactive questioning) is recommended to ensure optimum supportive treatment [ 16 , 20 – 23 ]. Similarly, with an overall prevalence of NIV of over 20%, we would also expect cough support to be used in all patients requiring NIV (at a minimum) [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany

Leibrock

Landfeldt

Hussong

et al. 2023

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, little is known about the uptake and impact of these therapies in real-world clinical practice. The objective of this study was to describe current motor function, need of assistive devices, and therapeutic and supportive interventions provided by the healthcare system, as well as the socioeconomic situation of children and adults with different SMA phenotypes in Germany. We conducted a cross-sectional, observational study of German patients with genetically confirmed SMA identified and recruited via a nationwide SMA patient registry (www.sma-register.de) within the TREAT-NMD network. Study data was recorded directly from patient-caregiver pairs through a study questionnaire administered online via a dedicated study website. Results The final study cohort consisted of 107 patients with SMA. Of these, 24 were children and 83 adults. In total, about 78% of all participants were taking medication for SMA (predominantly nusinersen and risdiplam). All children with SMA1 were able to sit and 27% of children with SMA2 were able to stand or walk. Impaired upper limb function, scoliosis and bulbar dysfunction were observed more frequently in patients with reduced lower limb performance. Physiotherapy, occupational therapy, and speech therapy, as well as the use of cough assists were less common than indicated by care guidelines. Family planning and educational and employment status appear to be related to motor skill impairment. Conclusions We show that the natural history of disease has changed in Germany following improvements in SMA care and the introduction of novel therapies. Yet, a non-trivial proportion of patients remain untreated. We also identified considerable limitations in rehabilitation and respiratory care, as well as low labour-market participation among adults with SMA, calling for action to improve the current situation.

show abstract

Section: Discussionmentioning

confidence: 99%

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany

Leibrock

Landfeldt

Hussong

et al. 2023

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Greater awareness of such symptoms (e.g. through proactive questioning) is recommended to ensure optimum supportive treatment (17)(18)(19)(20)(21). Similarly, with an overall prevalence of NIV of over 20%, we would also expect cough support to be used in all patients requiring NIV (at a minimum) (21).…”

Section: Discussionmentioning

confidence: 99%

“…through proactive questioning) is recommended to ensure optimum supportive treatment (17)(18)(19)(20)(21). Similarly, with an overall prevalence of NIV of over 20%, we would also expect cough support to be used in all patients requiring NIV (at a minimum) (21). Possible explanations for the identi ed gaps in rehabilitation care include lack of awareness of the need for rehabilitation treatment, limited availability of quali ed therapists locally, di culties in obtaining a prescription, or refusal by the patients themselves due to time constraints or low appreciation of the potential bene ts ( 13).…”

Section: Discussionmentioning

confidence: 99%

Deficiencies in the medical care of SMA: evidence from a nationwide patient registry in Germany

Leibrock

Landfeldt

Hussong³

et al. 2022

Preprint

View full text Add to dashboard Cite

Background Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, little is known about the uptake and impact of these therapies in real-world clinical practice. The objective of this study was to describe current motor function, need of assistive devices, and therapeutic and supportive interventions provided by the healthcare system, as well as the socioeconomic situation of children and adults with different SMA phenotypes in Germany. We conducted a cross-sectional, observational study of German patients with genetically confirmed SMA identified and recruited via a nationwide SMA patient registry (www.sma-register.de) within the TREAT-NMD network. Study data was recorded directly from patient-caregiver pairs through a study questionnaire administered online via a dedicated study website. Results The final study cohort consisted of 107 patients with SMA. Of these, 24 were children and 83 adults. In total, about 78% of all participants were taking medication for SMA (predominantly nusinersen and risdiplam). All children with SMA1 were able to sit and 27% of children with SMA2 were able to stand or walk. Impaired upper limb function, scoliosis and bulbar dysfunction were observed more frequently in patients with reduced lower limb performance. Physiotherapy, occupational therapy, and speech therapy, as well as the use of cough assists were less common than indicated by care guidelines. Family planning and educational and employment status appear to be related to motor skill impairment. Conclusions We show that the natural history of disease has changed in Germany following improvements in SMA care and the introduction of novel therapies. Yet, a significant proportion of patients remain untreated. We also identified considerable limitations in rehabilitation and respiratory care, as well as low labour-market participation among adults with SMA, calling for action to improve the current situation.

show abstract

“…Akár egyazon betegséget tekintve is felmerülhet többféle átvezetési program igénye. A spinalis izomatrophiában (SMA) például más lehet a feladat az innovatív genetikai terápiáknak köszönhetően jó állapotban lévő és a korábban oki terápia nélkül, genetikai kezelés hiányában felnövekvő fiatalkorú betegeknél [20]. Akár azonos betegség esetén is különbözhetnek a kialakított intézményi programok.…”

Section: Kihívásokunclassified

A ritka betegségben szenvedő gyermekek átvezetése a felnőttellátásba

Molnár

Sági

Szabó

et al. 2022

View full text Add to dashboard Cite

A technológia fejlődésével párhuzamosan a ritka betegségek diagnosztikája sokat fejlődött, ezzel egyidejűleg az innovatív terápiáknak köszönhetően a gyermekkorban diagnosztizált ritka betegségben szenvedő gyermekek jelentős része megéri a felnőttkort. A felnőtté válás során a krónikus gyermekkori betegségben szenvedő egyén a gyermekellátásból a felnőttellátásba való átvezetését (a tranzíciót) a betegségteher mellett további nehézségként élheti meg. A ritka betegségek esetén ez az átvezetés még több kihívással járhat a gyakori krónikus betegségekben szenvedőkével összehasonlítva, mert a felnőttellátásban nem biztos, hogy minden egészségügyi szolgáltatónál megvan az a szakmai felkészültség, amely az optimális betegellátáshoz szükséges. Továbbá az egyre hatásosabb kezeléseknek köszönhetően a korábbinál hosszabb lesz a betegséglefolyás, és így olyan betegségekben jelentkezhet igény a felnőttellátásra, amelyekben korábbról nincsen tapasztalat. Esetenként olyan új klinikai tünetegyüttesek jelenhetnek meg, melyek a klinikusok számára még ismeretlenek. Az átvezetési folyamat a legtöbb ritka betegségben egyelőre nem rendelkezik egységes irányelvekkel, annak ellenére sem, hogy ezek szerepe vitathatatlan. Irodalmi adatok alapján a jó gyakorlat szerint a felnőttellátásba való áttérésnek minden esetben egyénre szabottan, előzetesen kidolgozott terv szerint kell történnie. Ideális esetben egy átvezetést segítő koordinátor támogatja a betegeket, aki tartja a kapcsolatot a gyermekgyógyásszal, a felnőttszakorvossal, a pácienssel és annak szüleivel is. A beteg gyermek felnőtté válásának támogatása mellett a gondozók szükségletei is fontos szerepet kapnak az átvezetés során. Az optimális átvezetést elsősorban a folyamatban részt vevők oktatásával, a folyamatot leíró protokollok fejlesztésével, valamint a megfelelő infrastruktúra biztosításával lehet megvalósítani. Orv Hetil. 2022; 163(51): 2021–2026.

show abstract

Management of Spinal Muscular Atrophy in the Adult Population

Cited by 12 publications

References 156 publications

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany

Deficiencies in the medical care of SMA: evidence from a nationwide patient registry in Germany

A ritka betegségben szenvedő gyermekek átvezetése a felnőttellátásba

Contact Info

Product

Resources

About