ebesso – Cure SMA Canada

Government of Canada improves access to affordable and effective drugs for rare diseases

ebesso — Mon, 27 Mar 2023 21:20:07 +0000

Government of Canada improves access to affordable and effective drugs for rare diseases

In Canada, one out of twelve people—many of whom are children—has a rare disease. There are thousands of different rare diseases that affect patients, their families and caregivers across the country. Unfortunately, treatments are only available for a small percentage of these conditions. Even when treatments that might dramatically improve the quality of a patient’s life are available, they are often unaffordable and out of reach.

Today, the Honourable Jean-Yves Duclos, Minister of Health, announced measures in support of the first-ever National Strategy for Drugs for Rare Diseases, with an investment of up to $1.5 billion over three years. Through this, we will help increase access to, and affordability of, effective drugs for rare diseases to improve the health of patients across Canada, including children.

As part of this overall investment, the Government of Canada will make available up to $1.4 billion to provinces and territories through bilateral agreements. This funding will help provinces and territories improve access to new and emerging drugs, as well as support enhanced access to existing drugs, early diagnosis, and screening for rare diseases. This will help patients with rare diseases, including children, have access to treatments as early as possible, for better quality of life.

As a critical next step to advance the development of these bilateral agreements, the Government of Canada will engage with provinces and territories to jointly determine a small set of new and emerging drugs that would be cost-shared and covered in a consistent way across the country, for the benefit of patients. Similarly, to further support eligible First Nations and Inuit patients living with rare diseases, $33 million from this funding will go to Indigenous Services Canada’s Non-Insured Health Benefits Program.

In addition, we will also invest $68 million for various initiatives to help improve consistent access to drugs for rare diseases across the country, including:

$20 million over three years to the Canadian Agency for Drugs and Technologies in Health (CADTH) and the Canadian Institute for Health Information (CIHI) to improve the collection and use of evidence to support decision-making;
$32 million over five years to the Canadian Institutes of Health Research (CIHR) to advance rare disease research with a focus on developing better diagnostic tools and establishing a robust Canadian rare disease clinical trials network; and,
$16 million over three years to support the establishment of national governance structures, such as a Health Canada secretariat and a stakeholder Implementation Advisory Group, to support the implementation of the Strategy.

Today’s announcement is the result of feedback from extensive consultation that garnered diverse perspectives from over 650 individuals and organizations, including patients with lived experience, family members, and caregivers. To create this Strategy, lived experiences were taken into careful consideration to ensure Canadians living with rare diseases have access to the drugs they need and receive better treatments and services, regardless of where they live. In addition, this Strategy will improve the collection and use of evidence and strengthen investments in critical research and innovation in rare diseases.

The Government of Canada will continue to work with provinces, territories, and key partners to deliver on these improvements so those living with rare diseases can have better health outcomes and access to cutting-edge treatment options.

Quotes

“Access and affordability should never be a barrier to care. Through this new Strategy, Canadians living with a rare disease will soon have improved screening and diagnostics, and better access to affordable and effective treatments they need, no matter where they live. We will keep working with provinces and territories and all relevant partners so those living with a rare disease, including children, have the best health outcome possible while their caregivers get the support they need and deserve.”

The Honourable Jean-Yves Duclos
Minister of Health

“As the Federal Government launches the National Strategy for Drugs for Rare Diseases, the Non-Insured Health Benefits Program (NIHB) at Indigenous Services Canada will receive new investments of $33 million. This investment will help ensure that First Nations and Inuit eligible for NIHB prescription coverage will have the support needed to better access drugs for rare diseases.”

The Honourable Patty Hajdu
Minister of Indigenous Services and Minister responsible for the Federal Economic Development Agency for Northern Ontario

“This investment will enable improved access to new and emerging drugs for Canadians with rare diseases, including children, as well as support to early diagnosis and screening. This is a first step in looking at drugs for rare diseases coverage from a national perspective – consistently ensuring that patients can access the drugs they need regardless of where they live in the country.”

Adam van Koeverden
Parliamentary Secretary to the Minister of Health and to the Minister of Sport

Quick facts

Innovative treatments for rare disease can cost anywhere from $100,000 to more than $2 million per year. Budget 2019 provided funding up to $1 billion over two years, with up to $500 million per year ongoing, to help Canadians with rare diseases access the drugs they need.
In July 2021, Health Canada released a What We Heard Report from national engagement on the National Strategy. The engagement garnered diverse perspectives from over 650 individuals and organizations, including patients with lived experience, family members, and caregivers.
In December 2022, Health Canada pre-published proposed amendments to the Food and Drug Regulations that would introduce regulatory flexibilities such as the option of a rolling review, which may facilitate earlier market access for certain drugs, including drugs for rare diseases. The proposal would also allow for terms and conditions for all drugs, enabling Health Canada to include obligations on the manufacturer to optimize the benefits and manage any risks and uncertainties associated with the drug. This would be particularly important in the cases of drugs for rare diseases where patient populations are small.
Additionally, Health Canada’s Pediatric Drug Action Plan aims to improve access to safe and effective medicine for children in Canada, including drugs for rare diseases, which tend to be more prevalent in the pediatric population.

‘This disease will slowly rob me of everything’: Why are Canadians living with rare diseases waiting for treatment?

ebesso — Tue, 01 Mar 2022 16:53:20 +0000

COVID has proven we can quickly set up infrastructure without long-term clinical data. It’s time to do the same with rare diseases, says Durhane Wong-Rieger, president and CEO of Canadian Organization for Rare Disorders.
Vanessa Hrvatin,

Feb 28 2022

Sasha Kirkland, pictured with her husband, Mark and son Maks, lives with spinal muscular atrophy (SMA).

For Sasha Kirkland, it’s hard to look back over the last decade of her life and not feel discouraged. The 36-year-old lives with type 3 spinal muscular atrophy (SMA), a rare progressive disease that causes muscles to weaken over time. Over the last 10 years her condition has gotten progressively worse; she can no longer walk without assistance and was forced to leave her full-time employment.

But two years ago, there was a glimmer of hope. Alberta, where Kirkland lives, expanded access to the drug Spinraza — the first drug approved by Health Canada to treat SMA which slows progression of the disease — beyond just those living with type 1 SMA. Although she didn’t meet the new criteria, the province stated that patients not meeting the expanded funding criteria would be considered on a case-by-case basis.

To date, Kirkland’s neurologist has submitted an application for her to access Spinraza six times but each one has been denied.

“It feels like a blow to the chest,” says Kirkland. “It makes me feel like my life isn’t worth as much as other people’s, and that my ability to contribute to society isn’t as great, either.”

Kirkland is one of roughly three million Canadians living with a rare disease, many of whom can’t access treatment. There are several barriers for rare disease patients to access innovative therapies in Canada, including the price tag associated with these drugs, which ranges from $100,000 to more than $2 million per patient each year. This price is too steep for most people to pay out of pocket, leaving the onus on provincial and territorial governments or private insurers to cover the cost. If not, the only way patients can get access is through clinical trials, patient-support programs sponsored by pharmaceutical companies, or Health Canada’s special access program.

‘Rare disease drug strategy should focus on infrastructure’

This challenge in accessing treatment is what the federal government is looking to address in a national rare disease drug strategy , backed by a $1 billion proposed budget over two years starting in 2022. President and chief executive officer of the Canadian Organization for Rare Disorders (CORD) Durhane Wong-Rieger says the strategy must focus on building infrastructure that will make it possible for clinical trials to be done effectively and efficiently in Canada so more companies will be inclined to market their products here. Currently, only 60 per cent of treatments for rare diseases make it into Canada, and most get approved up to six years later than in the USA and Europe.

Another barrier is the health technology assessment a new drug goes through after receiving Health Canada approval, which looks at the drug’s value and overall effectiveness. Many drugs that treat rare diseases are tested in small clinical trials with high uncertainty in terms of which patients they work for and how well they work, so they don’t pass the assessment.

“This is where we think the biggest change will happen with this rare disease drug strategy,” says Wong-Rieger. “We need to approve these drugs, make them available now, and then have the infrastructure to monitor patients in real time to see how they’re working. The drugs are there and could make a profound difference in peoples’ lives, so we don’t need to wait until we have all the evidence or until we’ve done these big clinical trials.”

Wong-Rieger points to the roll-out of COVID-19 vaccines — which was coordinated quickly despite not being backed by years of clinical trial data — as exactly what the rare disease space has been advocating for.

“We got the vaccines and learned they were waning after four months just by studying patients in real time,” she says. “We’re not asking for money to be put toward drugs — that’s a given, just like having the money for vaccines was a given. We need the $1 billion to be invested in setting up clinics, communications and long-term monitoring, just like we’ve seen with COVID.”

“I can’t say things like, ‘our 10-year anniversary is coming up so let’s save money and go on a trip,’ because I don’t know what life is going to look like for me in 10 years,” says Sasha Kirkland.

Wong-Rieger says the rare disease drug strategy likely won’t consist of a fully fleshed out framework; it needs to be flexible as new infrastructure is put in place and more innovative therapies become available. And if Canada gets it right, she’s hopeful this strategy could act as a blueprint for other diseases.

“The idea here isn’t let’s just open the doors and make every drug available to everyone,” she says. “We want to make sure the drugs coming in are the right drugs and that they’re going to the right people. We need to have a process in place to ensure they’re coming in at prices and in circumstances that are affordable and sustainable in the long term.”

Despite the rare disease drug strategy being announced in 2019, CORD developed a broader strategy back in 2015 focused on many aspects of rare diseases, ranging from diagnosis to community support, but it never gained federal attention.

For Sasha Kirkland whose condition deteriorates a little more each day, expanding access to drugs and support for rare diseases can’t come soon enough.

“I can’t say things like, ‘Our 10-year anniversary is coming up so let’s save money and go on a trip,’ because I don’t know what life is going to look like for me in 10 years,” she says. “Will I be able to hold my own head up on a plane? Will I even enjoy travelling? I can’t plan for the future. This disease will slowly rob me of absolutely everything.”

Vanessa Hrvatin is a B.C.-based freelance writer.

Interested in other stories about rare disease advocacy? Read about Catherine Boivin’s life as an advocate for people living with spinal muscular atrophy, John Clark’s work in the myeloproliferative neoplasms community, and why Riyad Elbard is fighting for Canadians living with thalassemia.

February 28 is Rare Disease Day, a global movement focused on improving equity in social opportunity, health care, and access to diagnosis and therapies for people living with a rare disease. To find out how you can support Canadians living with rare diseases, visit the Canadian Organization for Rare Disorders.

Interim access to Zolgensma for Alberta children

ebesso — Thu, 28 Jan 2021 10:00:55 +0000

Families of Alberta children suffering from spinal muscular atrophy (SMA) may now be eligible to receive funding for gene replacement therapy treatment.

Alberta’s government is working with Novartis Pharmaceuticals Canada Inc. to provide interim patient access to Zolgensma.

SMA is a rare and progressive genetic disorder that causes muscle wasting. Alberta children with SMA and who may become ineligible for the treatment while waiting for the final approval processes to be completed, will be considered for funding on a case-by-case basis.

“Access to this treatment will mean a world of difference for these few brave children and their families. Alberta’s government recognizes the urgency families are experiencing in getting treatment for their children diagnosed with this disease and we are pleased to be able to provide interim funding to help them out.”

Tyler Shandro, Minister of Health

“We are so thrilled about the funding approval in Alberta for Zolgensma. This is huge for the SMA community and we feel a great sense of joy that no other family will be faced with raising money for the world’s most expensive medication.”

Lana Bernardin, mother of Kaysen

“Thank you to the Alberta government for making a life-saving decision that will change the course of this devastating disease. We are thrilled knowing the impact of this decision on the patients and their families.”

Susi Vander Wyk, executive director, Cure SMA Canada

Specialist physicians who provide care to children with spinal muscular atrophy are able to submit an application on behalf of their patients for coverage to be considered.

“This is a positive step forward in providing better care for young children with spinal muscular atrophy and wonderful news for those families who will have access to this gene therapy.”

Dr. Jean K. Mah, Division of Pediatric Neurology, Alberta Children’s Hospital

The Government of Alberta will continue working with the Canadian Agency for Drugs and Technologies in Health and the pan-Canadian Pharmaceutical Alliance (pCPA) to complete the standard drug review and negotiation processes, and to reach a long-term agreement for access to the drug for other children and families.

“Novartis is proud to share Alberta’s commitment to the SMA community. We feel privileged to be a partner with the province to provide access to Zolgensma during this interim period and address the urgent treatment needs of children affected by this devastating disease.”

Andrea Marazzi, country head, Novartis Pharmaceuticals Canada

Quick facts

Spinal muscular atrophy or SMA is a rare motor neuron disorder that can affect the muscles used for head and neck control, sitting, crawling, walking and swallowing.
Zolgensma was approved by Health Canada in December 2020; a review by the Canadian Agency for Drugs and Technologies in Health is underway.
Zolgensma is administered by intravenous (IV) infusion to replace a missing or faulty gene.
A one-time treatment of Zolgensma costs US$2.125 million.

Multimedia

Watch the news conference

Media inquiries

Steve Buick

780-288-1735
Press Secretary, Health

Zoom Meeting.

ebesso — Fri, 01 May 2020 12:27:23 +0000

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World Muscle Society position and advice

ebesso — Tue, 14 Apr 2020 20:05:55 +0000

Covid-19 and people with neuromuscular disorders:

World Muscle Society position and advice – Update 02-04-2020
Amendments to the original document text
3. What consequences does the risk of Covid-19 infection have for treatments used in people
with NMD? Additional advice in this paragraph:
• Patients should continue their usual cardiac treatments, including Angiotensin-Converting Enzyme inhibitors and Angiotensin Receptor Blockers. Some inaccurate and misleading information has been circulating regarding a potential harmful effect of these treatments, which has not been supported by any clinical or scientific evidence.
6. Can treatments for Covid-19 have effects on neuromuscular disease? Additional advice in this paragraph:
• Chloroquine and azithromycin treatment can be used experimentally to treat Covid-19.
Especially in combination, they should be carefully monitored in patients with Duchenne
Muscular Dystrophy or other myopathies with cardiac involvement, for an increased risk of arrhythmia by prolongation of QT interval.
……………………………………………………………………………..
New information and results on Covid-19 of relevance for Neuromuscular disease:
Cardiac issues:
• Evidence is gathering for a clinically significant role of cardiac involvement in morbidity and mortality of Covid-19, and cardiac surveillance is advised in patients with pre-existing
cardiomyopathy and /or dysrhythmia. Immunosuppressive treatment in patients with neuromuscular disease:
• Further literature supports the position of the authors that immunosuppression in
inflammatory muscle disease, myasthenia gravis, and peripheral nerve disease should not be discontinued except under specific circumstances and in consultation with the neuromuscular specialist.
………………………………………………………………………………
Websites added for further information:

HomePage

https://www.nvk.nl/over-nvk/vereniging/dossiers-en-standpunten/covid-19/document-covid-19?dossie rid=26542080
………………………………………………………………………………..
References:
D’Antiga L. Coronaviruses and immunosuppressed patients. The facts during the third epidemic. Liver Transpl. 2020 Mar 20. doi: 10.1002/lt.25756. [Epub ahead of print]
https://www.nejm.org/doi/full/10.1056/NEJMsr2005760?query=RP .
https://www.escardio.org/Councils/Council-on-Hypertension-(CHT)/News/position-statement-of-theesc-council-on-hypertension-on-ace-inhibitors-and-ang
Shaobo Shi, Mu Qin, Bo Shen, et al. Association of Cardiac Injury With Mortality in Hospitalized Patients With COVID-19 in Wuhan, China.JAMA Cardiol. Published online March 25, 2020.
doi:10.1001/jamacardio.2020.0950.
Responsible Authors:
Maxwell S. Damian, and the Executive Board of the WMS (www.worldmusclesociety.org)
April 2nd 2020

Le Covid-19 et les personnes atteintes de maladies neuromusculaires:

Position et conseils de la World Muscle Society L’ensemble des maladies neuromusculaires (NMD) couvre un large éventail de diagnostics différents avec des niveaux de handicap très variables, même chez des personnes ayant le même diagnostic. Il est donc difficile de formuler des recommandations spécifiques qui s’appliquent de manière générale.
Vous trouverez ici des recommandations qui peuvent s’appliquer à de nombreuses maladies neuromusculaires, à adapter en fonction des recommandations de chaque pays. Ces recommandations s’adressent principalement aux patients, aux soignants, aux neurologues généralistes et aux prestataires médicaux non spécialisés. Elles visent également à informer les spécialistes des maladies neuromusculaires, notamment en ce qui concerne les questions fréquemment posées et les besoins de première nécessité. Des liens pour accéder aux références détaillées sont fournis.
Remarque : le domaine d’impact du Covid-19 évolue rapidement. Les conseils contenus dans ce document sont sujets à révision tous les 3 jours. Assurez-vous de bien utiliser la version la plus récente du document.

1. Les personnes atteintes d’une maladie neuromusculaire (NMD) sont-elles plus à risque ?
Les associations neurologiques nationales et les réseaux neuromusculaires (European Reference Network EURO-NMD et autres) ont produit des orientations sur l’impact du Covid-19 sur les troubles neurologiques et leur gestion. Ces documents définissent le risque d’une évolution grave de l’infection à Covid-19 comme étant élevé ou modérément élevé dans toutes les formes de NMD sauf les plus légères.
Les caractéristiques conférant un risque élevé ou très élevé de maladie grave sont, par exemple, les suivantes :
– Faiblesse musculaire du tronc ou du diaphragme, entraînant des volumes respiratoires
inférieurs aux 60% prévus (CVF<60%), en particulier chez les patients atteints de cyphoscoliose
– Utilisation de ventilation par masque ou trachéotomie
– Toux faible et désencombrement des voies respiratoires inefficace en raison d’une faiblesse oropharyngée
– Présence d’une trachéostomie
– Atteinte cardiaque (et/ou sous traitement cardiologique)
– Risque de décompensation lors d’une fièvre, d’un jeûne ou d’une infection
– Risque de rhabdomyolyse lors d’une fièvre, d’un jeûne ou d’une infection
– Diabète et obésité concomitants
– Patients prenant des stéroïdes et suivant un traitement immunosuppresseur

2. Que doivent faire les personnes atteintes de NMD pour éviter l’infection ?
Le Covid-19 se propage par les gouttelettes expulsées lorsqu’une personne infectée tousse, éternue ou parle, ou éventuellement en touchant une surface portant des gouttelettes contaminées. Les personnes atteintes de NMD et présentant un risque élevé d’évolution grave de l’infection par Covid-19, telle que définie ci-dessus, doivent prendre les précautions suivantes :
– Une distance sociale d’au moins 2 mètres (6 pieds) est une exigence minimale. Pour les
personnes à haut risque (telles que définies au point 1.), il est conseillé de s’isoler. Les conseils officiels sur la façon de s’isoler doivent être suivis.
– Les gens sont encouragés à travailler à domicile ou à échelonner leur temps de travail si
possible.
– Évitez les rassemblements et les transports publics. Il faut limiter les visites aux personnes vulnérables.
– Le lavage fréquent des mains (20 secondes avec du savon et de l’eau chaude), l’utilisation de désinfectants pour les mains à base d’alcool à 60 % et la désinfection des surfaces sont essentiels. Les soignants doivent faire des visites à domicile, si possible. Les soignants essentiels en visite à domicile (par exemple, les prestataires pour l’assistance respiratoire) devraient porter des masques faciaux et un équipement de protection individuelle adéquat, conformément aux directives officielles en
vigueur, afin d’éviter la transmission du virus.
– Il est déconseillé de se rendre chez un kinésithérapeute, mais ce dernier doit donner des conseils sur le maintien de l’activité physique à distance, par téléphone ou par liaison vidéo.
– Il est important d’être préparé à toutes les éventualités, y compris lorsque les aidants sont absents pour cause de maladie ou de quarantaine. La personne responsable de l’organisation des soins à domicile doit avoir une vue d’ensemble de la situation du personnel à tout moment. Des plans/procédures doivent être établis pour répondre au mieux aux besoins du patient sans avoir recours à l’hospitalisation.
– Les conseils du gouvernement en matière de protection sont régulièrement mis à jour, et les auteurs conseillent aux patients, aux soignants et aux professionnels de la santé de suivre les recommandations actualisées des sites web officiels de leur pays.

3. Quelles sont les conséquences du risque d’infection par Covid-19 pour les traitements utilisés chez les personnes atteintes de NMD ?
– Les patients doivent s’assurer qu’ils disposent d’une réserve suffisante de médicaments et de matériel de soutien ventilatoire pour une période d’isolement prolongée (au moins un mois de réserve).
– Les patients et les soignants doivent utiliser les services de commande et de livraison de médicaments et d’équipements en ligne et par téléphone.
– Les patients et les soignants doivent être à l’aise avec les procédures d’urgence spécifiques à leur état et à leur équipement.
– Les patients atteints de DMD qui suivent un traitement par stéroïdes doivent poursuivre leur traitement. Les stéroïdes ne doivent jamais être arrêtés brusquement, et il peut être nécessaire d’augmenter la dose de stéroïdes en cas de malaise.
– L’immunosuppression en cas de maladie musculaire inflammatoire, de myasthénie et de
neuropathie périphérique ne doit pas être interrompue, sauf dans des circonstances spécifiques et en consultation avec le spécialiste des maladies neuromusculaires.
– Les exigences en matière d’isolement peuvent avoir une incidence sur les schémas des
traitements nécessitant des procédures hospitalières (notamment le nursinersen (Spinraza), l’alglucosidase alfa (Myozyme), les immunoglobulines intraveineuses (IgIV), les perfusions de Rituximab ou les traitements liés aux essais cliniques). Ces traitements ne doivent généralement pas être interrompus, mais, dans la mesure du possible, transférés dans un cadre non hospitalier (infirmières à domicile ou de proximité), pour lequel une coopération avec les pharmacies hospitalières peut être négociée. Il est conseillé de remplacer les IgIV par des immunoglobulines sous-cutanées chaque fois
que cela est possible. Le centre investigateur doit être consulté pour obtenir la conduite à tenir en cas d’essais thérapeutiques.

4. Que faut-il faire pour assurer les services de ventilation lors de l’isolement (ventilateurs à domicile, ballons d’insufflation BAVU, etc.)
– Des lignes téléphoniques de secours et de conseil devraient être proposées par les centres neuromusculaires des patients.
– Les patients doivent avoir une carte d’alerte/un bracelet médical indiquant les coordonnées du centre neuromusculaire.
– Les centres neuromusculaires doivent contacter activement les patients sous assistance
respiratoire pour s’assurer qu’ils disposent des informations pertinentes et d’un équipement adéquat.

5. Quand les personnes atteintes de NMD doivent-elles être admises si elles présentent dessymptômes d’infection ?

L’hospitalisation doit être évitée si possible, mais ne doit pas être retardée si nécessaire. Cette décision peut être difficile à prendre. Les personnes atteintes de NMD doivent en être conscientes :
– Les services d’urgence peuvent être soumis à de fortes pressions.
– Certains pays peuvent avoir mis en place des procédures de triage. Celles-ci peuvent affecter le potentiel d’admission en soins intensifs des personnes atteintes de NMD qui ont besoin d’une ventilation. Plus précisément, les termes “incurable” et “non traitable” peuvent être confondus par le personnel médical. Les maladies neuromusculaires peuvent être incurables, mais elles ne sont pas intraitables, et les implications pour les décisions de traitement sont très différentes.
– L’utilisation de l’équipement des patients à domicile (c’est-à-dire les ventilateurs) peut être interdite par certaines politiques de contrôle des infections de l’hôpital, ou nécessiter des modifications. Dans l’idéal, il devrait y avoir une solution de recours.

6. Les traitements du Covid-19 peuvent-ils avoir des effets sur les maladies neuromusculaires ?

– De nombreux traitements spécifiques pour le Covid-19 sont à l’étude. Certains d’entre eux peuvent affecter la fonction neuromusculaire de manière significative : par exemple, la chloroquine et l’azithromycine ne sont pas recommandés dans le cas de la myasthénie, sauf si une assistance respiratoire est disponible.
– D’autres traitements peuvent avoir des effets sur des maladies neuromusculaires spécifiques (notamment les troubles du métabolisme, des mitochondries, des myotonies et de la jonction neuromusculaire), et les particularités anatomiques peuvent influencer les options de traitement (par exemple, la ventilation prolongée en décubitus ventral).
– Les traitements expérimentaux pour le Covid-19 peuvent être proposés à visée
« compassionnelle », c’est-à-dire en dehors des conditions d’un essai thérapeutique. Ils ne doivent être pris qu’après consultation du spécialiste des maladies neuromusculaires du patient.

7. Que doivent faire les spécialistes des maladies neuromusculaires pour faciliter les décisionsd’urgence médicale et de soins intensifs concernant l’admission dans les unités, l’escalade du traitement et les limitations de soins chez les patients atteints de maladies neuromusculaires ?

Les décisions relatives à l’admission des patients aux soins intensifs peuvent être affectées par des problèmes de capacité prévus ou existants. Le triage peut avoir été institué. Cela peut avoir des conséquences pratiques et éthiques.
– Il doit y avoir une collaboration étroite entre les médecins spécialistes des maladies
neuromusculaires et respiratoires.
– Le spécialiste neuromusculaire doit être disponible pour jouer un rôle dans la garantie d’une accessibilité adéquate aux soins intensifs pour les patients atteints de NMD.
– Dans l’idéal, les spécialistes des maladies neuromusculaires auront participé à la formulation des politiques hospitalières, des algorithmes de décision et des formulaires de documentation.
– Les spécialistes des maladies neuromusculaires doivent élaborer des recommandations de traitement qui permettent que les patients restent chez eux le plus longtemps possible.

8. Quel soutien aux patients les centres neuromusculaires doivent-ils apporter ?
Les centres neuromusculaires et les services spécialisés doivent viser à fournir les éléments suivants :

– Des lignes d’assistance téléphonique pour les patients, composées de soignants experts en maladies neuromusculaires, de kinésithérapeutes et d’autres spécialistes, avec le soutien de médecins spécialistes (pédiatriques et adultes).
– La possibilité de poursuivre le suivi clinique de routine par des liaisons télémédecines
structurées par téléphone et vidéo (pour cela, les réglementations nationales et institutionnelles en matière de sécurité des données peuvent nécessiter des modifications). Des stratégies de soutien ventilatoire de proximité devraient être mises en place. Des stratégies visant à maintenir les traitements en milieu hospitalier avec un minimum de perturbations devraient être instituées.
– Les spécialistes des maladies neuromusculaires doivent discuter avec les services d’urgences et de soins intensifs de leurs hôpitaux en cas de restriction d’utilisation des équipements de VNI du domicile.
– Les spécialistes des maladies neuromusculaires doivent aider leur hôpital à définir les
dispositifs approuvés et à en assurer la disponibilité (par exemple, des systèmes de masques pour les soins intensifs avec des filtres à particules virales pour permettre l’utilisation des appareils de VNI des patients à l’hôpital).
– Les liaisons et les soins doivent être partagés avec les services de soins intensifs.
Plus amples informations:
Les documents sont disponibles au:
https://www.theabn.org/page/COVID-19
https://neuromuscularnetwork.ca/news/covid-19-and-neuromuscular-patients-la-covid-19-et-lespatients-neuromusculaires/

Coronavirus (COVID-19) information for people with NMD

https://www.gov.uk/government/publications/guidance-on-shielding-and-protecting-extremelyvulnerable-persons-from-covid-19/guidance-on-shielding-and-protecting-extremely-vulnerablepersons-from-covid-19

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European Neuromuscular Centre website: www.enmc.org

Auteurs du document:

Maxwell S. Damian, PhD, FNCS, FEAN
The members of the Executive Board of the WMS (www.worldmusclesociety.org) in cooperation with members of the Editorial Board of Neuromuscular Disorders, official journal of the WMS March 28th 2020 1600
Traduit en Français par Pr S Attarian et Dr AM Grapperon

SMA Data Update

ebesso — Mon, 06 Apr 2020 14:51:28 +0000

SMA Data update with Biogen.

Dear members of the SMA community,
Following your request for updates regarding new SMA data in adult patients, we wanted to share that a real-world study of nusinersen (SPINRAZA ) use in teens and adults with SMA was published in The Lancet Neurology on March 18, 2020 in a manuscript titled “Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study”. Results from this independent observational study conducted in Germany by Hagenacker T, et al. demonstrate the safety and efficacy of nusinersen in teens and adults with genetically confirmed 5q spinal muscular atrophy (SMA). The study examined the largest adult patient cohort to date treated with nusinersen and showed clinically meaningful improvements in motor function.
The study contains data from 124 adult SMA patients (mainly, types 2 and 3) from ten neuromuscular treatment centers in Germany. The results are based on the evaluation of several motor function scales, including the HFMSE (Hammersmith Functional Motor Scale Expanded), RULM (Revised Upper Limb Module) and the 6MWT (6-Minute Walk Test).

A summary of the study is available here.

If you have any questions about the data, please reach out to a treating SMA physician.

Sincerely,

Biogen Canada

Mise à jour des données sur l’AS.

Aux membres de la communauté de l’amyotrophie spinale (AS),
À la suite de votre demande de mises à jour concernant de nouvelles données sur l’AS chez les patients adultes, nous souhaitions vous informer qu’une étude sur l’utilisation du nusinersen (SPINRAZAMC) dans le monde réel chez des adolescents et des adultes atteints d’AS a été publiée dans la revue The Lancet
Neurology le 18 mars 2020. Le manuscrit est intitulé « Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study ».
Les résultats de cette étude observationnelle indépendante menée en Allemagne par Hagenacker T, et coll. démontrent l’innocuité et l’efficacité du nusinersen chez les adolescents et les adultes atteints d’amyotrophie spinale 5q confirmée génétiquement. L’étude a examiné la plus importante cohorte de patients adultes traités par le nusinersen à ce jour et a montré des améliorations cliniquement
significatives de la fonction motrice.
L’étude contient des données provenant de 124 patients adultes atteints d’AS (principalement des types 2 et 3) de dix centres de traitement neuromusculaire en Allemagne. Les résultats sont fondés sur l’évaluation de la fonction motrice au moyen de plusieurs échelles, dont les suivantes : Hammersmith étendue (HFMSE; Hammersmith Functional Motor Scale Expanded), test de fonction des membres supérieurs (RULM; Revised Upper Limb Module) et test de marche de six minutes (6MWT; 6-Minute WalkTest).

Un résumé de l’étude est accessible ici.

Si vous avez des questions au sujet des données, veuillez communiquer avec un médecin qui traite l’AS.

Cordialement,

Biogen Canada

video conference #1

ebesso — Thu, 02 Apr 2020 14:15:22 +0000

Here is the first video conference in a series of videos to be posted

Video conference #1

https://youtu.be/coV2O-7UONY

Together in SMA with Biogen March Newsletter

ebesso — Sun, 29 Mar 2020 13:31:35 +0000

Together in SMA with Biogen.

Please click here to view or download the newsletter

National SMA Conference!

ebesso — Sun, 09 Feb 2020 14:46:26 +0000

Come Join Us at the

National SMA Conference!

February 27 – 29, 2020

Hyatt Regency, King St., Toronto, ON

Receive information and support for SMA Patients and Caregivers

· Learn about the latest in SMA treatment access in Canada

· Understand the Canadian pharmaceutical access process

· Learn about Canadian research projects and how they impact the global SMA community

· Update on Newborn Screening

· Caregiver support, family support

· Learn about medical care for the disease, SMA

· Share experiences with others who truly understand what you are going through

· Leave with knowledge and connections that will bring support to you and your family all year long.

· YOU are NOT alone!

Our Proud Sponsors

EVENT SCHEDULE

EVENT DETAILS

Nova Scotia broadens access to SPINRAZA™ (nusinersen injection)Cure SMA Canada is recognized for our contribution to the Canadian government’s understanding of the impact of SMA

ebesso — Mon, 03 Feb 2020 16:03:48 +0000

Cure SMA Canada is recognized for our contribution to the Canadian government’s understanding of the impact of SMA and played a major role in the associated changes to access to treatment brought by this contribution.

Thank you to all of those who participated and supported Cure SMA Canada initiatives! Together we truly do make a difference for us all!

January 31, 2020,
Susi Vander Wyk, Executive Director
Cure SMA Canada

Dear Susi,
Thank you for providing joint patient input to us in August 2018, on Spinraza for 5q spinal
muscular atrophy across all types.
Your joint input helped CADTH develop the review protocol by identifying important outcomes, including muscle strength or mobility, ability to eat independently, ability to breathe independently, and quality of life.
In our clinical report, your input was used to describe the different types of spinal muscular atrophy and the hopelessness and despair parents feel, watching their children decline. It was also used to describe the impact of spinal muscular atrophy on children, families, and caregivers in the economic report.

A member of the Canadian Drug Expert Committee presented your input to provide patients’ perspectives and to underscore treatment gaps. Committee members reflected on how the evidence under review addressed the issues identified by your group.
CADTH reviewers and expert committee members found your input useful, particularly with regards to:
• Involving youth, adults, and parents of children living with spinal muscular atrophy (types 1,2, 3, and 4). Committee members heard direct quotations from these individuals.
• Highlighting the importance of maintaining mobility, including upper body mobility, and the value of not losing further mobility and independence.

CADTH reviewers and the Canadian Drug Expert Committee members thank you for your effort in providing patients’ perspectives. Patient input is an integral part of our process and we appreciate your contribution.

Sincerely,
Sarah Berglas
Manager, Patient Engagement, CADTH