In this section you will find news on clinical trials for drugs, drug approvals, Unit Certifications and useful information and articles for Neuromuscular Diseases.
Επιστημονική Επιμέλεια: Οικονομίδου Ευγενία, MSc Βιοχημικός
Roche receives positive CHMP opinion for Evrysdi (Risdiplam), the first and only at home spinal muscular atrophy (SMA) treatment with proven efficacy in adults, children and infants two months and older.
Read the Company’s Press Release:
FDA Approves of Sarepta’s AMONDYS 45
Sarepta Therapeutics announces FDA’s Approval of AMONDYS 45™ (casimersen) Injection for the Treatment of Duchenne Muscular Dystrophy (DMD) in Patients Amenable to Skipping Exon 45.
Read the Company’s Press Release: https://bit.ly/2PeSzbD
“Our vision is harmonized newborn screening programmes across Europe that leave no families of a newborn with a rare disease in uncertainty regarding their diagnosis, care and treatment, regardless of the country where they are born.
Read the whole statement:
MDA Hellas’ s proposal to the Ministry of Health in relation to the addition of Spinal Muscular Atrophy (SMA) in the Newborn Screening Program and the Prenatal Testing
In the context of its statutory purpose, MDA Hellas, having previously made a proposal to the Ministry of Health regarding the prevention of SMA and taking into account the frequency, knowledge of the natural progression of the disease, as well as the fact that there is a diagnostic, precise and specific examination, has sent a new proposal, requesting:
Eurordis has carried out a reaseach on the preferences of patients with rare diseases in relation to data sharing and protection! Following the link below you will find the published results of the research:
We are delighted to announce that MDA Hellas is officially an Associate Member of SMA Europe.
SMA Europe is a non profit Umbrella of over than 19 SMA Patient Organizations all across Europe.
7th World Duchenne Awareness Day
MDA Hellas organised and hosted a webinar for the celebration of the 7th World Duchenne Awareness Day (WDAD) dedicated to “Duchenne and the Brain”.
Watch the webinar through MDA’s youtube channel: https://www.youtube.com/watch?v=Y7EJzcwFFVc&t=2s
World Duchenne Organisation (WDO) held also a webinar that you could watch the Organisation’s site:
NS Pharma –FDA’s approval for VILTEPSO™ (viltolarsen) – exon skipping 53
NS Pharma announced FDA’s approval for VILTEPSO™ (viltolarsen) yesterday for people living with Duchenne Muscular Dystrophy amenable for exon skipping 53.
Read NS Pharma’s press release: https://nspharma.com/pdfs/Viltepso_Approval_Press_Release.pdf
FDA approved Evrysdi (risdiplam) – Genetech (Roche member) for adults and children over 2 months with Spinal Muscular Atrophy – SMA
In two clinical trials Evrysdi improved mobility of people living with SMA in a broad spectrum of ages and stages of severity, including types I, II and III of SMA.
Evrysdi contributed to the survival of newborns without permanent respiratory support and achieving sitting without support, which is a very important milestone, which is not expected according to the natural history of the disease.
Evrysdi is the first and only oral drug for SMA.
For further information, in the link following is the Company’s press release: https://www.gene.com/media/press-releases/14866/2020-08-07/fda-approves-genentechs-evrysdi-risdipla
CHMP Recommends Translarna Label Update That Enables Treating DMD Patients Unable to Walk
The Committee for Medicinal Products for Human Use (CHMP), an arm of the European Medicines Agency, has recommended a label update for Translarna (ataluren) to enable its use in Duchenne muscular dystrophy (DMD) patients who lost their ability to walk.
The committee has specifically voted to remove the statement “efficacy has not been demonstrated in non-ambulatory patients” from the therapy’s label. If accepted by the European Commission, which makes the final decision based on CHMP’s recommendation, the change is also expected to support continued reimbursement and access to the medication in patients who become non-ambulatory over the course of treatment.
Translarna is approved — with conditions — in the European Union for DMD patients 2 years and older who carry nonsense mutations in the DMD gene and are able to walk. But clinical trials and real-world evidence have demonstrated it is also able to improve walking ability and patient outcomes beyond the loss of walking ability.
Long-term data from Study 019 (NCT01557400), an open-label extension study, found that Translarna preserves lung function in non-ambulatory (unable to walk without assistance) DMD patients for an additional four years, compared to an historical group of patients receiving standard treatment in the Duchenne Natural History Study (DNHS; NCT00468832).
The DNHS, conducted by the Cooperative International Neuromuscular Research Group, is the largest observational, longitudinal study assessing the natural course of the disease.
Results from the ongoing STRIDE registry (NCT02369731) — an observational study across more than 50 care centers in Europe and Israel — also demonstrated that boys receiving Translarna plus standard treatment retained their ability to walk independently for an additional 3.5 years compared to those receiving standard care alone in the DNHS.
Translarna also preserved lung function in boys receiving it in the STRIDE trial. Compared to their counterparts in the natural history study, these boys gained healthy lung function for longer periods. Respiratory failure is a leading cause of death among DMD patients, so preserving lung function is a key therapeutic priority.
For more information:
PTC’s Press Release:
Facioscapulohumeral Muscular Dystrophy – FSHD
It is the second most common muscular dystrophy with frequency 1:8.333 patients globally. Symptoms’ onset are often during adolescence, but they can appear from infancy to adulthood, affecting both sexes. There are two subcategories depending on the type of mutation, type 1 FSHD1 – 95% of patients and type 2 FSHD2 – 5%.
There is no cure yet, but management of symptoms in order to improve independence and quality of life.
Follow the links for important and more information:
Federation of European Myotonic Dystrophy Associations – Euro-DYMA
Federation of European Myotonic Dystrophy association for Myotonic Dystrophies type 1 (Steinert) and type 2 (PROMM) is now a fact! It was recently funded by the participation of patient advocates and MDA Hellas is one of the funding members. In Federation’s site you will find updated information on the diseases and the Federation, and of course, you shall visit all update library. Furthermore, you will find every update information about the research on Myotonic Dystrophies. Follow the link: http://euro-dyma.eu/
Positive result announcement from HOPE – 2 clinical trial for Duchenne Muscular Dystrophy by Capricor Pharmaceuticals
One year results show improved function of upper limbs.
Company’s intention is to meet with FDA for approval discussion.
For detailed information in the Press Release:
Recent report by Catabasis –Update letter for Edasalonexent
For further information: https://www.catabasis.com/Catabasis%20Newsletter%20May%202020%20.pdf
Pulmonary Support for Myotonic Dystrophy Patients during COVID – 19 Pandemic
Follow the link for detailed advice on pulmonary care for myotonic patients:
Result Announcement of clinical trial EPYDIS, phase III, for Givinostat, Italfarmaco Group
Italfarmaco Group announced the recommendation received for continuation of the clinical trial EPYDIS phase III for Givinostat in Duchenne Muscular Dystrophy.
Phase II analysis results showed that the administration of Givinostat in combination with corticosteroids show the progression of the disease. For further information follow the link of the Press release:
1 year data presentation from FIREFISH clinical trial of Risdiplam in neonates with SMA I, Roche Pharmaceuticals
– 29% of infants sitting without support
– 43.9% were able to hold their head upright
– 31.7% were able to roll to the side
– 4.9% were able to stand with support
For further information, click here to read the official press release:
Rare diseases and COVID-19
Rare disease community raises alert over discrimination in critical care guidelines during COVID-19 pandemic and urges immediate action proposing concrete solutions.
First two Webinar from WDO held on 14th and 21st of March 2020 respectively, already posted in our website, with information and advice on COVID-19, drugs and use of corticosteroids in Duchenne and Becker muscular Dystrophies, are now available in greek and you shall find them:
The two webinars that took place on the 14th and 21st March 2020 respectively, already uploaded in our website, related to information and advice for COVID-19 and drug administration and use of corticosteroids in Duchenne and Becker Muscular Dystrophy, are now available in Greek also:
Follow the links:
Coronavirus Precautions for Ataxia Patients
The coronavirus (COVID-19) pandemic is affecting communities worldwide. The health and safety of the Ataxia community is a priority at NAF. We have consulted with our Medical Research Advisory Board, infectious disease specialists, the World Health Organization, and the Centers for Disease Control and Prevention to learn about the best ways that a person with Ataxia can protect themselves during this public health event.
As a result, NAF has taken preventative measures such as cancelling our 2020 Annual Ataxia Conference and recommending cancellation of in-person support group meetings until this situation is under control. We’d also like to help you understand what you can do to decrease your risk of contracting COVID-19.
COVID-19 Recommendations for the Neuromuscular Community
Current guidelines for COVID-19 exposure have focused on specific communities related to risk to travelers, the elderly and those with conditions that affect respiratory health. In order to inform the neuromuscular community of specific information which is relevant to COVID-19, MDA has prepared the following information which expands on the CDC recommendations for the general population in order to keep the neuromuscular community up to date on best practices for managing the global spread of SARS-CoV-2.
A few general points will help patients and families to have a better understanding of the current situation:
For information specific to healthcare, see CDC’s Hand Hygiene in Healthcare Settings.
These are everyday habits that can help prevent the spread of several viruses. CDC does have specific guidance for travelers.
It is important that caregivers and household members take all necessary precautions to avoid the risk of contracting COVID-19 and spreading the illness to someone with a neuromuscular disease. We recommend that neuromuscular patients and caregivers work together to identify a backup caregiver who will be able to provide care for the neuromuscular patient in the event that the caregiver gets sick. In addition to the preventative measures listed above, caregivers should also wash their hands or use hand sanitizer before and after providing care (such as feeding, bathing, and dressing) to help decrease the risk of exposure for the patient.
The CDC website lists additional precautions for People at Risk for Serious Illness from COVID-19.
On 26 March 2020, the Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion, recommending the granting of a marketing authorisation for the medicinal product Zolgensma1, intended for the treatment of babies and young children who have a rare, serious inherited condition called spinal muscular atrophy (SMA).
As Zolgensma is an advanced therapy medicinal product, the CHMP positive opinion is based on an assessment by the Committee for Advanced Therapies. The applicant for this medicinal product is AveXis EU Limited.
Zolgensma will be available as a solution for infusion (2 x 10¹³ vector genomes/ml). Zolgensma is a type of medicine called a ‘gene therapy’. It contains the active ingredient onasemnogene abeparvovec which contains human genetic material.
Patients with SMA lack a functioning gene needed to make a protein essential for nerves that control muscles (Survival Motor Neuron or SMN). Zolgensma supplies a fully functioning copy of the human SMN gene enabling the body to produce enough SMN protein. The gene is delivered into the cells where it is needed using a modified virus that does not cause disease in humans. The most common side effects are increases in liver enzymes (transaminases) seen in blood tests.
The full indication is:
Zolgensma is indicated for the treatment of:
Zolgensma is for single treatment only and should be administered in suitable clinical centres under the supervision of a physician experienced in the management of patients with SMA.
Detailed recommendations for the use of this product will be described in the summary of product characteristics (SmPC), which will be published in the European public assessment report (EPAR) and made available in all official European Union languages after the marketing authorisation has been granted by the European Commission.
Coronavirus & Myotonic Dystrophy
Myotonic is concerned that the new coronavirus (COVID-19) may have a disproportionate impact on people and families affected by myotonic dystrophy so we are reaching out to share resources and ensure you are informed.
At the present time, the coronavirus in the U.S. is concentrated in specific areas and communities. Due to regional differences, and because myotonic dystrophy is variable from one person to the next, it is difficult to make recommendations across the board for everyone. However, we do know that many individuals affected by myotonic dystrophy fall within the category of “People at Risk for Serious Illness from COVID-19”, as defined by the Centers for Disease Control (CDC). For example, those with heart problems, weakness of breathing muscles, weak cough, or diabetes are considered at higher risk of illness from this virus.
Find the rest of the article in the official website of MYOTONIC DYSTROPHY Foundation, USA.
2ο Webinar of WDO with updated advice and information rearding the pandemic: https://youtu.be/jBXFSi6jJrE
Following this link you will find details discussed in the 2nd webimar of WDO covid-19-webinar-2-script-english in relation with the drugs and use of corticosteroids for Duchenne Muscular Dystrophy, COVID-19 and immune system.
Pharmaceutical Company PTC Therapeutics published data from the analysis of STRIDE world registry of non sense mutations in Duchenne Muscular Dystrophy and administration of TranslarnaTM (Ataluren).
Follow the link below for the official announcement:
and the related article with all the data analysis: https://www.futuremedicine.com/doi/pdf/10.2217/cer-2019-0171
Follow the link to read the press release by FDA: https://www.fda.gov/news-events/press-announcements/fda-grants-accelerated-approval-first-targeted-treatment-rare-duchenne-muscular-dystrophy-mutation?
Certification of Special Neuromuscular Unit in Rio, Patras as Center of Expertise for Rare and Complicated Disorders
With the publication of Gov Β’ 4039/5.11.2019, Neuromuscular Unit of University Regional Hospital in Patras is recognized as Center of Expertise for rare and complicated disorders mainly in the theme of “Rare Neurological Disorders” and more specifically in the subcategories of:
This is the third Special Neuromuscular Unit of MDA Hellas (Muscular Dystrophy Association) created by the exclusive sponsorship of Stavros Niarchos Foundation Cultural Center. From 23/9/2009 has been in full operation working with cases from the other two Units in Athens and Thessaloniki, and cases from the Neurological Clinic of the Hospital, belonging to this specific group of disorders. The Units covers all needs of Western Greece, Ionian Islands, Peloponnese, and other.
Many patients are being served weekly by a large doctor’s team with scientific manager the director of the Neurological Clinic, Professor Mrs. Elisabeth Chroni, MD, PhD, by the multidisciplinary and full monitoring of their condition.
With this recognition of the Neuromuscular Unit as a center of expertise there is the possibility of participating in the European Reference Centers (ERN), so patients could have access to every information. Common registries of clinical trials and information will be created; there will be a chance of collaboration in matters of education of health staff and a unified patient’s registry.
Roche has announced positive results of SUNFISH clinical trial assessing Risdiplam for SMA II or III patients aged 2-25 years old. For more information, here is the press release of the Company: https://www.roche.com/media/releases/med-cor-2019-11-11.htm?fbclid=IwAR3SVZWgrIiwV7sNO17tCBPEeftQ4kaeeu_BjP8VeX7Lyi_fpwOdR3sUr-k
It is now available kit for prenatal screening of Spinal Muscular Atrophy (SMA) in four European Countries, Germany, Austria, Switzerland and the Netherlands.
Roche has terminated clinical trials SPITFIRE and THUNDERJET of RG6206 – an anti-myostatin drug for Duchenne Muscular Dystrophy. For more details, you shall find the related press release from WDO: https://worldduchenne.org/wp-content/uploads/2019/11/Roche-Community-Letter.pdf?fbclid=IwAR2TARQXrToRnGA_kQCkcMIH3WA4bPponYag0w6W3wih89OjgnAm9s31-Ls.
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