Pompe disease can range from a rapidly deteriorating infantile form which significantly impacts the hear function to a slower, progressive onset form primarily affecting skeletal muscle and progressive respiratory involvement.
Late onset of the disease can be acute and taxing with progressive weakness throughout the body that gets worse over time, particularly skeletal muscles and muscles controlling breathing.
Biotechnology company, Amicus Therapeutics focuses on developing and commercializing medicines for rare diseases made the authorization announcement yesterday (August 16).
The two-component treatment is made up of Pombliti - cipaglucosidase alfa – and Opfolda – miglustat and aimed at adults with late onset of Pompe disease (LOPD).
The indication for Opfolda is an enzyme stabilizer of cipaglucosidase alfa long-term enzyme replacement therapy for adults with LOPD.
In addition, the National Institute for Health, and Care Excellence (NICE) issued final guidance recommending reimbursement of Pombiliti + Opfolda for use within the National Health Service (NHS) in England and Wales.
As stated in the guidance, NICE concluded that the cost-effectiveness estimates for Pombiliti + Opfolda showed a positive net health benefit and recommended Pombiliti + Opfolda for adults with LOPD as first line and later lines of therapy.
Clear unmet need
Before being approved in the UK, Pombiliti + Opfolda was granted an Innovation Passport under the Innovative Licensing and Access Pathway (ILAP), a Priority Innovative Medicines designation, as well as a positive scientific opinion under the Early Access to Medicines Scheme (EAMS). This accelerated the time to market and enabled healthcare professionals to prescribe the treatment prior to marketing authorization based on clinical factors for patients with a clear unmet need.
Bradley Campbell, president and chief executive officer of Amicus Therapeutics, Inc, said: “The MHRA approvals for Pombiliti and Opfolda are a major step forward for adults in the U.K. living with late-onset Pompe who are seeking new treatments.
“We are grateful to the global Pompe community who have helped advance this therapy, especially the patients, families, and physicians who participated in our clinical studies.
“The speed in which NICE recommended reimbursement of Pombiliti and Opfolda is reflective of the UK’s Innovative Licensing and Access Pathway, the data behind Pombiliti and Opfolda, the strong collaboration with the reimbursement authorities, and the Amicus commitment to bring this therapy to those living with Pompe disease as quickly as possible.
“I am proud of Amicus’ relentless commitment toward ensuring patient access to our innovative therapies, and we are working as quickly as possible to make Pombiliti and Opfolda commercially available.”
Late-onset Pompe disease (LOPD) is a rare, debilitating, and life-threatening lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscles and other tissues.
Exciting development for the Pompe community
Mark Roberts, consultant neurologist at Salford Royal NHS Foundation Trust added: “From the positive uptake of the Early Access to Medicines Scheme, we have already seen the impact that this treatment is having for patients. Having widespread access to this treatment is an exciting development for the Pompe community, giving HCPs and patients a new option that exhibits a novel mode of action.”
The MHRA and NICE decisions were based on clinical data from the phase 3 pivotal study (Propel), the only trial in LOPD to study both ERT-naïve and ERT-experienced participants in a controlled setting.
Allan Muir, Pompe Support Network, said, “Pompe disease is a rare disease, one that extensively affects all aspects of life for an individual and their family, friends, and colleagues. We are very grateful to companies such as Amicus Therapeutics that seek to make meaningful differences for our small community and we welcome new treatments that bring further choice to patients.”
Pombiliti + Opfolda has demonstrated fulfilment of the Great Britain orphan designation criteria and will be added to the Orphan Register held by the MHRA. Both will benefit from 10 years of market exclusivity in respect of similar medicinal products in the approved orphan indication.