Watch the Rare Disease Day 2021 official video.

For more information, info pack, get involved, downloads, events worldwide, etc.: www.rarediseaseday.org 

Mitochondrial Medicine Society's Response to COVID19 Vaccine

The following information has been published by MMS:

Patients with mitochondrial disease and families have many questions about the new COVID-19 vaccine(s), including whether to take it? Whether they should be prioritized? And its potential risks and benefits.

Although we know we are continuing to learn more about COVID-19, there is still much uncertainty about risks of COVID-19 infection in people with mitochondrial disease. At this time, there are still few reported children and adults with mitochondrial disease who have had COVID-19 infection based on worldwide registries. While some of the few reported to have had COVID-19 may have had significant problems, we do not have any evidence to believe or suspect that the frequency of poor outcome following COVID-19 infection is out of proportion to that in the general population.

The Food and Drug Administration (FDA) has now cleared two vaccines designed to lessen the risk of acquiring COVID-19: the BioNTech/Pfizer and the Moderna COVID-19 vaccinations for emergency use. 

Both are mRNA vaccines, a new type of vaccine to protect against infectious diseases. So far, European Medicines Agency (EMA) has approved the BioNTech/Pfizer and Moderna vaccines. This authorization follows a positive scientific recommendation based on a thorough assessment of the safety, effectiveness and quality of the vaccine by the European Medicines Agency and is endorsed by the Member States. The UK has also approved the Oxford/AstraZeneca vaccine which is an adenovirus vaccine. 

In Phase 3 trials, the BioNTech/Pfizer vaccine showed a 95% efficacy rate, 7 days after the second dose was given in people 16 years an older (94% effective in adults >65 years old). The Moderna vaccine showed a 94% efficacy rate, 14 days after the second dose is received, in people 18 years and older. These results were consistent across gender, age, race and ethnicity. The Oxford/AstraZeneca vaccine given to people 18 years and older, showed an efficacy of 70.4% after 2 standard doses of the vaccine given 28 days apart. 

At this time, vaccine availability is limited but it is hoped supplies will increase so that most of the global population can be vaccinated. The distribution of the vaccine in the US is being driven by recommendations put forth by the Centers for Disease Control and Prevention Advisory Committee on Immunization Practices, with slight local changes put forth by individual states. The overall strategy is to offer the vaccines to health care professionals and residents in long- term care facilities in the first phase of vaccination. This will then be extended to people at risk and in later stages, to the rest of the population. The European Commission planned a centralized EU approach to secure equitable access to the vaccine across EU. Under its vaccines strategy, the Commission forged agreements with individual vaccine producers on behalf of EU countries. Once available, proven safe and effective, and authorized at EU level, all Member States will have access to COVID-19 vaccines at the same time and the distribution will be done on a per capita basis to ensure fair access. 

It is very important to remember that even with vaccines becoming available in the US and elsewhere, the best measures to prevent COVID-19 spread remain the current infection control procedures - Keep wearing your mask, wash your hands, avoid large gatherings, and remember social distancing and washing your hands. The vaccine is just another way of fighting the pandemic and DOES NOT replace these important safety measures. At this time it is not certain whether those vaccinated and immune to getting COVID-19 themselves can be vectors of COVID-19, meaning they may be able to spread the disease without acquiring it themselves. 

Read the full article.

The Journal of Inherited Metabolic Disease has recently started publishing scientific podcasts. Three of them covered mitochondrial disease. Worth listening to if you are interested in scientific developments.

The JIMD is the official journal of the Society for the Study of Inborn Errors of Metabolism, SSIEM.

It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical, biochemical, genetic, experimental, methodological, theoretical, epidemiological, ethical and counselling aspects.

The JIMD also publishes reviews of important new developments or controversial issues relating to metabolic disorders.

For more information: https://www.siemm.org/jimd 

From disease mechanisms to therapeutic development

On the 30^th of  November  to the 2nd of December 2020 the Wellcome Genome Campus in the UK will organise its fifth international scientific meeting on mitochondrial disorders and the search for novel effective therapies.

Mitochondrial disorders have emerged as a major cause of inherited human disease. Although the past decade has seen major advances in our understanding of their genetic basis and the underlying pathology, these findings have yet to translate into new therapies. There is a growing appreciation that new treatments will only emerge through a concerted collaboration between clinicians, laboratory scientists and the life sciences industry, based on a firm understanding of the disease mechanisms.

This conference will build new partnerships that harness our understanding of the disease mechanisms, accelerating the pace of effective treatments for mitochondrial diseases. This year’s meeting will include pre-clinical models for mitochondrial disease, an update on current clinical trials, a discussion on the importance on informatics and data sharing for precision medicine and regulatory guidance from a range of international agencies.

The meeting is aiming to bring together leaders in the field of translational mitochondrial medicine, with a programme designed to engage and inspire the next generation of mitochondrial researchers. The meeting attracts international participants interested in mitochondrial diseases, working in molecular genetics, biochemistry, pathology, and clinical medicine.

For information on the final programme, organisers, speakers, registration, abstracts, sponsors and a keynote lecture video from the 2019 meeting you may click here.