Duchenne muscular dystrophy (DMD) is one of the most common and devastating types of muscular degeneration and results in progressive muscle weakness starting at an early age1,2
DMD is a genetic, degenerative disease that is inherited in an X-linked recessive mode with an incidence of up to 1 in 3,500 live born males worldwide.1–4 The average age of symptoms onset is between 3 and 5 years, with patients experiencing progressive weakness of muscles, usually leading to the loss of ambulation as teenagers.1,3,5
DMD is characterized by a loss of the protein dystrophin, leading to cell damage, impaired calcium homeostasis, elevated oxidative stress and reduced energy production in muscle cells.3,4 This results in progressive muscle weakness, loss of muscle tissue and early morbidity and mortality due to cardio-respiratory failure.2–4, 6–13 Progressive respiratory muscle weakness leads to restrictive respiratory disease, hypoventilation, ineffective cough, recurrent pulmonary infections, atelectasis, respiratory failure and ultimately the need for daytime ventilation.14–16 As respiratory insufficiency develops, mechanical ventilation becomes necessary to prolong survival beyond the late-teenage years.2,6,13,17
New treatments are urgently needed to slow disease progression in patients with DMD
Currently, glucocorticoids are the only available medical treatment that can slow the decline in muscle strength and function, irrespective of the disease-causing mutation.3,5,13,17,18 However, the effect is only partial and clinical use is limited by well-known side effects caused by steroids.3,5,13,17,18 A recent study showed that up to 42% of DMD patients aged 10 years and older had either never used steroids or have discontinued their use.5 Loss of respiratory function with increasing age continues to be a major cause of morbidity and mortality in patients with DMD, and new treatments to support respiratory function are needed urgently.2,6,13,17
Santhera has partnered with Parent Project Muscular Dystrophy (PPMD) to study patient and caregiver preferences regarding the benefits and risks of pulmonary therapies in DMD.19
Raxone clinical development in DMD
Santhera’s clinical development program with Raxone in DMD started with a Phase II randomized, placebo-controlled trial (the DELPHI trial).20,21
The DELOS trial evaluated the efficacy and safety of Raxone in delaying the loss of respiratory function in patients with DMD compared with placebo.5 DELOS was a double-blind, randomized, placebo-controlled Phase III study in patients with DMD aged between 10 and 18 years who were not using concomitant corticosteroids.6 The results of the DELOS trial have been published in several peer-reviewed journals.6,22,23,24,25
The SIDEROS study is a double-blind, randomized, placebo-controlled Phase III clinical trial evaluating the efficacy of Raxone compared to placebo in delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids. More information on SIDEROS can be viewed at www.siderosdmd.com.
Santhera has been granted orphan drug designation for Raxone for the treatment of DMD in Europe and the US. The US Food and Drug Administration (FDA) has also granted rare pediatric disease designation and Fast Track designation for Raxone for the treatment of DMD. Furthermore, the UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) designated Raxone as Promising Innovative Medicine (PIM) and as a suitable candidate for entry into Step II of the EAMS process.
"Take a Breath DMD" awareness campaign
Santhera launched the "Take a Breath DMD" campaign to underscore the importance of respiratory care for people living with DMD. The mission of this educational campaign is to help people living with DMD and their families receive information to help manage respiratory complications, including information about breathing, coughing and pulmonary care.
If you are residing in the US and are interested in learning more about respiratory function in DMD please visit www.takeabreathdmd.com.
U.S. Expanded Access Program “BreatheDMD”
Santhera provides access to the investigational medicine idebenone for patients with DMD through a U.S. Expanded Access Program (EAP) referred to as BreatheDMD. EAPs such as BreatheDMD are permitted by the U.S. Food and Drug Administration (FDA). Such programs allow eligible patients with serious or life-threatening diseases or conditions, where there is a lack of satisfactory therapeutic alternatives, to gain access to a medicine under investigation before it is approved by regulatory authorities. Idebenone is a medicine that is under investigation for the treatment of DMD. It has not yet been approved by the U.S. FDA and the safety and efficacy continue to be evaluated in clinical trials. Details regarding this EAP, including eligibility requirements, can be obtained by visiting the website www.breatheDMD.com or here.
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