Publications by authors named "Marie-Christine Ouillade"
Article Synopsis
- The 270th ENMC workshop focused on improving the methods for accurately determining SMN2 gene copy number, which is vital for making treatment decisions in SMA (Spinal Muscular Atrophy) patients.
- It brought together experts from neuromuscular medicine, clinical practice, patient advocacy, and industry to discuss the challenges faced by laboratories in this testing process.
- Participants concluded with a set of recommendations for enhancing molecular prognosis, newborn screening, treatment approaches, and guidelines for laboratory kit manufacturers to reduce errors in testing.
Recent advances in biomedicine are opening the door to new approaches, and treatment and prevention are being transformed by novel medicines based on genetic engineering, innovative cell-based therapies and tissue-engineered products, and combinations of a medical device with embedded cell or tissue components. These advanced therapy medicinal products (ATMPs) hold one of the keys to making a reality of genuinely personalised medicine. There are an estimated 450 companies across the globe working on the development of gene therapies and more than 1,000 clinical trials underway worldwide, and some 20-30 new ATMPs filings are expected in Europe annually over the next 5 years.
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- A survey conducted by SMA Europe after a new treatment was approved showed how patients feel about their daily lives and access to treatments for spinal muscular atrophy (SMA).
- 1474 people from 26 countries responded, and many said just keeping their condition stable feels like progress, but there were significant gaps in who could get treatments based on their age and how severe their disease is.
- The survey highlighted the need for more options in treatments, especially combination therapies, and showed that working together among all groups is important for developing new SMA treatments.
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.
PLoS Curr
January 2013
Drug trials in children engage with many ethical issues, from drug-related safety concerns to communication with patients and parents, and recruitment and informed consent procedures. This paper addresses the field of neuromuscular disorders where the possibility of genetic, mutation-specific treatments, has added new complexity. Not only must trial design address issues of equity of access, but researchers must also think through the implications of adopting a personalised medicine approach, which requires a precise molecular diagnosis, in addition to other implications of developing orphan drugs.
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