Duchenne muscular dystrophy (DMD) is one of the most common and devastating types of muscular degeneration and results in progressive muscle weakness, starting at young age.1,2
A genetic disorder, DMD primarily affects boys and is characterized by loss of the protein dystrophin in muscle cells as a result of genetic mutations.3,4 The associated cell damage and uncontrolled influx of calcium leads to mitochondrial dysfunction and reduced energy production in muscle cells.5 This contributes to progressive muscle weakness and loss of muscle tissue over time including a decline in pulmonary function leading to trouble breathing.4,5
The average age at which boys will start to show symptoms of DMD is 3 to 5 years, and they are commonly unable to walk by their teenage years.1,4,6 As the disease progresses, the muscles affected include those needed for breathing (respiration), causing a problem called ‘respiratory insufficiency’ that leads to worsening breathing. This means that patients with DMD suffer from a decline in respiratory function, may need support to breathe and may have more frequent lung infections.7–9 Other typical symptoms include a weak cough, chest infections, daytime sleepiness, headaches, suffering from nightmares, or other respiratory and pulmonary infections.
At Santhera we are committed to advancing the treatment of DMD by investigating the clinical efficacy and safety of Raxone in patients with DMD. Find additional information about our phase III trials in DMD at the clinicaltrials.gov webpage.
In the USA, Santhera provides access to the investigational medicine idebenone for eligible patients 10 years of age and older with DMD through a US Expanded Access Program (EAP) referred to as BreatheDMD, consistent with Santhera Pharmaceutical USA’s policy on offering compassionate use to investigational medicines. EAPs such as BreatheDMD are permitted by the US Food and Drug Administration (FDA) and are for patients living in the USA only. Details regarding this EAP, including eligibility requirements, can be obtained by visiting the website www.breatheDMD.com.
If you are a registered healthcare professional please click here to find out more about clinical trials of Raxone in DMD.
Mendell JR & Lloyd-Puryear M. Muscle Nerve 2013; 48:21–26.
Passamano L, et al. Acta Myol 2012; 31:121–125.
Muscular Dystrophy Association, Duchenne muscular dystrophy (DMD). Accessed February 2016.
Bushby K, et al. Lancet Neurol 2010; 9:77–93.
Timpani CA, et al. Med Hypotheses 2015; 85:1021–1033.
Henricson EK, et al. Muscle Nerve 2013; 48:55–67.
Melacini P, et al. Neuromuscul Disord 1996; 6:367–376.
Simonds AK. Semin Respir Crit Care Med 2002; 23:231–238.
Bourke SC. Clin Med 2014; 14:72–75.