Making the RARE voice heard
PTC Therapeutics Marks Rare Disease Day 2018 by Celebrating 150 Year Anniversary Since Duchenne Muscular Dystrophy Was First Described
Duchenne is a rare and fatal genetic disorder that occurs primarily in boys. It results in progressive muscle degeneration and weakness from early childhood leading to premature death in the mid-twenties due to heart and respiratory failure.1,2
Since Guillaume Duchenne’s observations in 1868, many research advances have been made and innovative treatments are now available or are in research and development phases. Today, young boys with Duchenne live longer than those observed by Guillaume Duchenne, thanks to these advances. However, there is still a significant opportunity to improve the medical management of boys with Duchenne, by developing further therapies and addressing the age at which they are diagnosed.
“Signs and symptoms of Duchenne typically appear in early childhood. Earlier diagnosis leads to earlier treatment and care which may enable boys to live a longer and better quality of life,” said Dr Anne-Marie Childs, Consultant Paediatric Neurologist from Leeds General Infirmary. “Whilst every infant is different, early signs and symptoms of Duchenne may include delayed motor milestones and poor speech development, frequent falls and calf hypertrophy. This should prompt a simple blood test to measure the muscle enzyme, called creatine kinase (CK), levels which would then guide genetic testing.
Early diagnosis of Duchenne is important so that patients and families receive the best care and support available. Simple interventions such as physiotherapy, cardiac assessment, orthopaedic management and pulmonary management may extend a patient’s life expectancy and enhance their quality of life.3, 4
“If it is thought your child may have Duchenne then a simple blood test to determine the levels of CK is one way of initially screening for the condition. The CK test can be carried out by your GP or a hospital physician. Following any subsequent diagnosis, we would urge families to ensure they enrol on the DMD registry, an important resource used in recruiting for clinical trials." said Mark Silverman, a Duchenne parent and Action Duchenne trustee.
Diagnosing Duchenne signs and symptoms earlier through improved education, referral and management will make a tremendous difference to those boys affected and their families
“Diagnosing Duchenne signs and symptoms earlier through improved education, referral and management will make a tremendous difference to those boys affected and their families,” said Janis Clayton, Vice-President and General Manager UK and Ireland, PTC Therapeutics.
Not only have there been significant research advances over the past decade, there have also been important technical advances to support patients and their families following a diagnosis of Duchenne. “The Duchenne and Me mobile app, available now, is for patients and families affected by Duchenne in the UK,” said Mark Silverman. “This app aims to make it easier for patients and parents to help keep track of aspects of their health, from the everyday routine of medication and medical appointment reminders, to having medical contact information to hand when dealing with medical emergencies.”
About Rare Disease Day
Launched by EURORDIS and its Council of National Alliances in 2008, Rare Disease Day has and continues to collaborate with organisations globally in order to put on events, create media coverage, and ultimately raise awareness amongst the general public and policy-makers about rare diseases and their impact on patients’ lives. PTC Therapeutics recognizes and supports Rare Disease Day.
For more information, please visit: https://www.rarediseaseday.org
About Duchenne Muscular Dystrophy
Primarily affecting males, Duchenne muscular dystrophy (DMD or Duchenne) is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-twenties due to heart and respiratory failure. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with DMD can lose the ability to walk as early as age ten, followed by loss of the use of their arms. DMD patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and twenties.
More information on the signs and symptoms of DMD can be found at: www.duchenneandyou.co.uk
About Duchenne and Me
Duchenne and Me is a mobile app, available now, that has been developed and funded by PTC Therapeutics as part of its commitment to supporting patients and their families affected by Duchenne. Duchenne and Me was developed to help patients and their families with the daily challenge of living with Duchenne, and specifically to help keep track of aspects of their health, from the everyday routine of medication and medical appointment reminders, to having medical contact information to hand when dealing with medical emergencies. Key features include a dashboard for at-a-glance data input on aspects of the patient’s health and wellness; a function to help families manage medical appointments; medication information, such as medications being taken; emergency care considerations, which includes emergency contacts for families to share with doctors and useful information; and a help section with chatbot answers to common questions about Duchenne. Duchenne and Me is available in the UK for free download on the Android and Apple app stores.
Google Play: https://play.google.com/store/apps/details?id=co.cognite.koch.karl.dandme
About PTC Therapeutics, Inc.
PTC is a global biopharmaceutical company focused on the discovery, development, and commercialization of novel medicines using our expertise in RNA biology. PTC's internally discovered pipeline addresses multiple therapeutic areas, including rare disorders and oncology. PTC has discovered all of its compounds currently under development using its proprietary technologies. Since its founding nearly 20 years ago, PTC's mission has focused on developing treatments to fundamentally change the lives of patients living with rare genetic disorders. The company was founded in 1998 and is headquartered in South Plainfield, New Jersey.
For More Information:
Imaan Petra (Havas Just::)
Tel: 0208 877 8435
1. NHS Choices. Muscular Dystrophy – Duchenne. Link: https://www.nhs.uk/conditions/muscular-dystrophy/types/#duchenne-muscular-dystrophy (Last accessed February 2018).
2. Parent Project Muscular Dystrophy: Signs of Duchenne. Link: http://www.parentprojectmd.org/site/PageServer?pagename=Understand_about_signs (Last accessed February 2018)
3. Birnkrant DJ, et al. Lancet Neurology. Published online 23 January 2018. Published online ahead of print. DOI: https://doi.org/10.1016/S1474-4422(18)30024-3
4. McDonald, Craig MVishwanathan, Vijay et al. The Lancet , Volume 391 , Issue 10119 , 451 - 461
Rare Revolution Editor