Allt om Spinal muskelatrofi
#11
RESEARCHERS CORRELATE SPINAL MUSCULAR ATROPHY DISEASE EXPRESSION WITH HAPLOTYPES

STRASBURG, PA- A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy (SMA) within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity.


SMA is a devastating genetic disease that affects the motor neurons that control movement, eating, and breathing. It represents the leading genetic cause of infant death worldwide, with an incidence of approximately 1 per 10,000 newborns worldwide and as many as 1 per 2,800 babies of Mennonite descent. The observations were conducted within a population-specific framework to elucidate subtle differences in disease expression and the subsequent impact of disease-modifying therapies administered early in life.

Forty-two Mennonite and fourteen Amish patients with SMA were included in the study by practitioners and researchers at the Clinic for Special Children in Strasburg, PA.
The study is published online today in PLOS ONE.

10. september 2018

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#12
New Method of NUSINERSEN/Spinraza Delivery with intrathecal catheter (SIC) system,

and this is shown by a new study from Clinc for Special Children in Strasburg the method has already been developed and tested there.

STRASBURG, PA- A new report has identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy (SMA) using a subcutaneous intrathecal catheter system (SIC) configured by connecting an intrathecal catheter to an implantable infusion port. SMA is a devastating genetic disease that leads to progressive degeneration of motor neurons that control movement, swallowing, and breathing. It is the leading genetic cause of infant death worldwide. Nusinersen is the first FDA approved therapy for SMA but must be administered into the cerebrospinal fluid by repeat lumbar puncture every 4 months for life. Unfortunately, the majority of surviving SMA patients have skeletal deformities or spinal hardware that make it difficult to safely and reliably access the cerebrospinal fluid.

10. september 2018

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#13
Nusinersen / Spinraza visar att effektivitet vid barnet är äldre än 7 månaders

Lovande forskningsresultat med nusinersen från Academy of NeurologyVuxna och barn som börjar behandlas senare dra nytta av 
Vi behandlade 33 barnet i åldern 8,3 till 113,1 månader mellan december 2016 och maj 2017. Alla patienter levde och fortsatte behandlingen vid M6. Framsteg på den HINE-2 Hammersmith nivå.[/size]
Just nu tidigare desto bättre är regeln!

Om ett barn eller en vuxen börjar behandlas senare kan Spinraza för att förbättra andning, rörlighet,

Vi behandlade 33 barnet i åldern 8,3 till 113,1 månader mellan december 2016 och maj 2017. Alla patienter levde och fortsatte behandlingen vid M6.

31. augusti 2018

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#14
Nusinersen Shows Benefit in SMA1, Even When Started Late

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps[/color]

31. augusti 2018

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#15
Standards för SMA

Karolinska University Hospital, Stockholm


26. juni 2016


Attached Files
.pdf   Study_Sandarts-of-care.pdf (Size: 375,06 KB / Downloads: 33)

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#16
Sleep disorders in spinal muscular atrophy with type 2 and type 3
  • The frequency of sleep disorders in spinal muscular atrophy (SMA) is explored
  • The Sleep Disturbance Scale for Children and the Hammersmith Functional Motor Scale Expanded were used.
  • The results demonstrate that sleep disorders are common in young persons with SMA.
A total of 85 young persons (6–25 years of age) with type 2 and type 3. SMA were assessed using the Sleep Disturbance Scale for Children (SDSC), a scale assessing different sleep factors, and the Hammersmith Functional Motor Scale Expanded (HFMSE), a scale evaluating motor impairment.

READ MORE

2. november 2016

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#17
SMA und die Multi Source-Ansatz zu Häufigkeit

Die spinale Muskelatrophie (SMA) ist eine autosomal-rezessive neuromuskuläre Erkrankung. SMA führt eine Mutation im Überlebens-Motor-Neuronen-Gen (SMN1) am Ort 5q13.2 zu einer Degeneration von alpha-motorischen Neuronen, was zu einer fortschreitenden Muskelschwäche führt . Die Mehrheit der Patienten (92%) hat eine homozygote SMN1-Deletion. Bei den verbleibenden Patienten werden Punktmutationen gefunden oder SMA wird durch Mutationen in anderen Genen verursacht. Eine homologe Kopie des SMN1-Gens, des SMN2-Gens, wird bei demselben Chromosom präsentiert, das in der Lage ist, etwa 10-20% des Volllängen-SMN-Proteins zu produzieren

Materialen Documentation by TREAT und Springer

12. juni 2017

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#18
Spinraza aktiviert das Ersatzgen

Die erste Therapie für die spinale Muskelatrophie steht ab dem 3 Juli 2017 in Deutschland zu Verfügung

Quote:«Die spinale Muskelatrophie ist inzwischen die häufigste, genetisch bedingte Todesursache im Kindesalter», sagte Professor Dr. Jan Kirschner vom Universitätsklinikum Freiburg auf der Zulassungspressekonferenz in Frankfurt am Main. Etwa 50 bis 60 Prozent der Betroffenen litten an  der schweren, infantilen  Form, so der Neuropädiater. Bei ihnen zeigten sich die Symptome der Muskelerkrankungen bereits im Säuglingsalter. Betroffene Kinder  erlangen meist nie  die Fähigkeit, den Kopf zu heben oder ohne Hilfe zu sitzen und erreichen nur mit künstlicher Beatmung ein Alter von mehr als zwei Jahren. Patienten mit späterem Krankheitsbeginn, etwa 30 bis 40 Prozent der SMA-Betroffenen, erlernen zwar die meisten motorischen Fähigkeiten, verlieren sie aber im Laufe ihres Lebens wieder.
Nusinersen ist ein synthetisch hergestelltes Molekül, das eigens dafür konzipiert wurde, um ein Ersatzgen für SMN1 zu aktivieren: das fast baugleiche SMN2. Letzteres ist ebenfalls wie das SMN1-Gen in der Lage, das benötigte SMN-Protein zu bilden. Allerdings hat das SMN2-Gen eine Art Webfehler, der die Übersetzung der Erbinformation in das rettende Eiweiß um 75 bis 90 Prozent verringert. Diesen Fehler kann Nusinersen beheben. Das Antisense-Oligonukleotid heftet sich an einer vorab definierten Stelle an die SMN2-Boten-RNS und verhindert dadurch, dass daraus ein Abschnitt entfernt und die Erbinformation unbrauchbar wird. Die Menge korrekt übersetzter Boten-RNS steigt dadurch um das 2,6-Fache auf einen Anteil von 50 bis 69 Prozent an.[/i]

30. juli 2017

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#19
An early treatment with Spinraza improves motor function of patients with SMA

[Image: Spinraza.png]

This shows a new data from Biogen

New data from  Phase 3 ENDEAR study demonstrated earlier initiation of treatment with SPINRAZA may improve motor function outcomes in infants with Spinal Muscular Atrophy (SMA)
Phase 2 EMBRACE interim analysis showed greater motor milestone achievement in infants and children treated with SPINRAZA, compared to those untreated, in patient populations not studied in the pivotal trials

Interim analysis of EMBRACE also supported the dosing regimen of four loading doses in the first two months, followed by the administration of SPINRAZA every four months thereafter for infantile- and later-onset SMA

CAMBRIDGE, Mass.–Oct. 5, 2017– Biogen (NASDAQ: BIIB) presented new data demonstrating that earlier initiation of treatment with SPINRAZA® (nusinersen) may improve motor function outcomes in infants and children with spinal muscular atrophy (SMA). Results continued to reinforce the favorable efficacy and safety profile of SPINRAZA. The data were shared at the 22nd International Annual Congress of the World Muscle Society in Saint Malo,France (October 3-7, 2017).[/size]
[size=medium]A new analysis from the Phase 3 ENDEAR study showed infants with SMA who initiated treatment earlier in the disease (shorter disease duration) demonstrated greater benefit and improvement in motor function outcomes.

As measured by the Hammersmith Infant Neurological Examination (HINE), significant differences in motor milestone responders were observed between infants treated with SPINRAZA compared to untreated infants with disease duration less than or equal to 12 weeks (75% vs. 0%; P<.0001) and those with disease duration greater than 12 weeks (32% vs. 0%; P=.0026). There was also a significant benefit in event-free survival in infants treated with SPINRAZA with disease duration less than or equal to 12 weeks (P=.0004). “These studies contribute to a growing body of evidence that SPINRAZA can make a meaningful difference in the lives of people with SMA regardless of their age or stage of the disease,” said Alfred Sandrock, M.D., Ph.D., executive vice president and chief medical officer at Biogen. “Across studies, we continue to see evidence that earlier initiation of treatment with SPINRAZA can lead to improved clinical and functional outcomes.” Interim analyses were also presented from the Phase 2 EMBRACE study which was designed to assess the efficacy and safety of SPINRAZA in individuals with infantile- and later-onset SMA who were ineligible for the two earlier pivotal studies. The EMBRACE interim analysis showed a larger proportion of infants and children treated with SPINRAZA were HINE motor milestone responders compared to those who were untreated. Results from the interim analysis also supported the dosing regimen of four loading doses in the first two months, followed by the administration of SPINRAZA every four months thereafter, for individuals with infantile- and later-onset SMA. In the ENDEAR and EMBRACE studies SPINRAZA demonstrated a favorable benefit-risk profile. Safety data involving the intrathecal administration of SPINRAZA showed the incidence and nature of the most common lumbar puncture-related adverse events in the clinical studies were similar in children with later-onset SMA with or without scoliosis

5. oktober 2017

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#20
Administration of nusinersen/spinraza in adolescent and adult SMA type 2 , 3 patients

Latest studies published by Springer

Due to the clinical features of SMA, the application of the ASO by lumbar puncture can be challenging in symptomatic patients considering the frequently observed scoliosis, previous spine fusion surgeries, joint contractures, and respiratory insufficiency. To evaluate safety and feasibility of the intrathecal treatment in adolescent and adult SMA type 2 and 3 patients, we analyzed 93 lumbar punctures, monitored number of lumbar puncture attempts, duration of the procedure, injection site, and needle length.


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