Duchenne Muscular Dystrophy (DMD) is a rare condition, present at birth. It is a genetic disorder that affects the muscles; they become weak and rapidly worsen over time leading to disability and the need for breathing support. DMD is mostly found in males, however there are a small number of females who carry the genetic mutation. It is a debilitating and devastating condition; the average life expectancy is between 19 and 32 years.
There is no cure for DMD. Current treatments help to relieve some of the symptoms. However, there are several new therapies that are being developed. As part of understanding the impact of DMD and the need for new treatments, we must understand how many patients have DMD in England. There are no recent estimates of this in the public domain. We wish to use CPRD Aurum data to calculate the proportion of people of people in England who are living with DMD and the proportion of babies born with DMD.
Duchenne muscular dystrophy (DMD) is a devastating progressive neuromuscular disease that significantly impacts patients’ lives, as well as their parents and families. It is a severely debilitating condition, which shortens and impairs quality of life with currently limited treatment options.
The DMD-causing mutation is present at birth, and current evidence suggests that muscle damage begins at approximately 2 years of age. The typical onset of DMD symptoms is in early childhood, between the ages of 2 and 5 years, with symptoms on average appearing at 2.5 years old
There is no cure for DMD and treatment is mainly supportive. Due to progressive respiratory muscle weakness, ventilatory support is increasingly required, either through non-invasive or invasive (tracheostomy) ventilation. Despite optimal care, most patients with DMD die in young adulthood, typically between the ages of 25-30, with a median age of death of 29.9 years (when receiving ventilatory support). Death usually results from pneumonia, or cardiac and/or respiratory failure.
There are several innovative therapies in development for DMD. In order to demonstrate the unmet need for DMD, it is essential to obtain up-to-date estimates of the incidence and prevalence of DMD to allow us to estimate the number of patients who could potentially benefit from new therapies. Existing prevalence estimates are out-dated or not representative of England. We propose using CPRD Aurum to calculate the incidence and prevalence of DMD.
Prevalence rate; incidence rate
Shuk-Li Collings - Chief Investigator - Pfizer Ltd - UK
Shuk-Li Collings - Corresponding Applicant - Pfizer Ltd - UK
Darren Jeng - Collaborator - Pfizer Inc - US Headquarters
Elena Rivero Sanz - Collaborator - Pfizer Ltd - UK
Maciej Czachorowski - Collaborator - Pfizer Ltd - UK
Mary Araghi ( Gerino ) - Collaborator - Pfizer Ltd - UK
Darren Jeng - Collaborator - Pfizer Inc - US Headquarters
Practice Level Index of Multiple Deprivation