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PTC is pleased to present the Mito Action November Monthly Mito Expert Series presentation about #theMitEStudy clinical trial for the potential treatment of mitochondrial disease with associated refractory epilepsy. Our Chief Development Officer Matthew Klein, MD, MS FACS and our VP of Clinical Development Francesco Bibbiani, MD will discuss our investigational small molecule therapy PTC-743 (also known as vatiquinone).
Congratulations to PTC’s Italian team for winning the Reuters Events Pharma Awards Europe 2020 award in the category of Most Valuable Awareness Initiative for Well-Child Visits for Life, a campaign aimed at earlier diagnosis for children with Duchenne muscular dystrophy.
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare disease that affects the brain. It interferes with the way the cells in the nervous system talk to each other through neurotransmitters. People with AADC deficiency often exibit poor muscle tone, body movement disorders and involuntary eye movements. Because it is difficult to diagnose, AADC deficiency is sometimes mistaken for cerebral palsy or epilepsy. Like PTC on Facebook to attend #AADCAwarenessDay on 10/23/20 or learn more at AADCAwarenessDay.com.
Aleksandra is living with a mitochondrial rare disease called Leigh syndrome, which can be associated with refractory seizures. Leigh syndrome is a severe and progressive disease that typically results in death in early childhood. We are working on a treatment for rare mitochondrial epilepsies with a clinical trial to help people like Aleksandra and her family enjoy more moments together.
PTC is proud to share our Latin pride during Hispanic Heritage Month (9/15 to 10/15). Meet three LatinX employees who embody their respective Hispanic heritages AND their United States patriotism, too. At PTC, our culture is to make every day count; to care for each other, our community, and for needs of our patients; to be critical, not cynical, of what we do, but not of each other; we strive every day to be better than we were the day before; we want to be part of an important cause and strive to achieve great accomplishments. We are more fearful of not daring to do great things than of failing.
PTC is recognizing International Ataxia Awareness Day by sharing information about Friedrich’s ataxia, a rare disease that falls within the scope of our therapeutic focus. Currently, our scientists and researchers are working to develop a potential gene therapy and small molecule treatment for this genetic disorder. Visit our website to explore our therapeutic focus as well as our portfolio pipeline.
The most difficult aspect of working in the rare disease space is knowing patients suffer from rare diseases as PTC develops innovative therapies that can help. This is especially true when it comes to children, and, in particular, the rare form of cancer diffuse intrinsic pontine glioma (DIPG). DIPG is a glioma arising in the brainstem. It makes up 10 to 15% of all brain tumors in children and affects males and females in equal instances. The median age of diagnosis is approximately 5 to 7 years. Symptoms may include odd eye movements, slurred speech, difficulty swallowing, trouble maintaining balance, or a drooping of one part of the face. Learn more about DIPG and our approach to treating this rare disease on the PTC website.
PTC CEO Stuart Peltz, Ph.D. and SMA program lead Nikolai Naryshkin, Ph.D. share the story of our spinal muscular atrophy (SMA) program and the steps it took to develop an FDA-approved therapy for this rare genetic disorder. SMA is caused by mutations in the SMN1 gene. RNA science called alternative splicing ? along with a lot of hard work and determination ? made this groundbreaking small molecule rare disease treatment possible.
Risdiplam - the first approved therapy discovered and developed from our proprietary splicing platform - has been approved by the FDA. Evrysdi? (risdiplam), the first at-home, orally administered treatment for spinal muscular atrophy (SMA) in adults and children 2 months and older - showed clinically meaningful improvements in motor function and obtainment of developmental milestones across two trials in patients age two months and above and across all levels of disease severity, including types
August is SMA (spinal muscular atrophy) Awareness Month, and this is an opportune moment to remind everyone about SMA and our monumental discovery of risdiplam for the potential treatment of this rare yet serious genetic disorder. SMA is the leading genetic cause of death among infants. Risdiplam is an investigational survival motor neuron 2 (SMN2) splicing modifier for SMA and is an orally administered liquid. It is designed to increase and sustain SMN protein levels both throughout the central nervous system and in peripheral tissues of the body. Read more in our recent press release.
