Amryt Pharma and University College Dublin unite to bring hope to ‘butterfly children’, who suffer from an incurable skin condition.

Novel gene therapy shows promise Amryt Pharma and University College Dublin unite to bring hope to ‘butterfly children’, who suffer from an incurable skin condition.

Amryt Pharma has signed an agreement with University College Dublin to in-license an exciting non-viral gene therapy platform technology. It offers a potential treatment for patients with a particularly severe form of an incurable and intensely painful skin condition known as epidermolysis bullosa (EB).

Severe forms of EB are life-limiting and sufferers are known as ‘butterfly children’, due to their fragile skin. People with extreme sub-types of this disease often do not survive past childhood; in other cases, they may die in their teenage years or twenties due to a severe form of skin cancer, exacerbated by the inflammation and repeated cycles of wounding and healing of their skin.

There are no approved treatments for EB but finding an effective treatment for their wounds, unbearable itch, pain and infection risk, is a patient’s most urgent need. In addition, gene therapy offers hope for a potential cure in the future.


In the DNA

Gene therapy is a medical procedure designed to treat or prevent a disease by modifying the faulty DNA in a person’s cells. Many human diseases are caused by a defect in either a single gene or set of genes; gene therapy could allow doctors to switch off a faulty or missing gene, replacing it with a correct copy or introduce a new gene into the body altogether.

Recessive dystrophic epidermolysis bullosa (RDEB) is a particularly severe form of EB caused by a fault in the gene responsible for instructing cells on how to produce the ‘velcro’ that keeps the first two layers of the skin together – the epidermis and the dermis – called collagen VII.


Transformative treatment

Unlike other therapies currently in development, the novel gene therapy platform in-licensed by Amryt Pharma, AP103, uses a special polymer which is designed to be applied topically and is intended to deliver a normally functioning collagen VII gene into skin cells, with the potential to restore the healthy production of collagen in people with RDEB. In turn, this may  make the skin more robust and resistant to damage, thereby improving the patients’ quality of life.

“While we continue investing in our global, EASE trial for AP101 with the potential to be the first approved topical wound care product to improve the speed of healing in EB, our gene therapy platform brings a great opportunity for Amryt to play a role in leading research in the area of gene therapy, one of the most exciting and potentially transformative areas of medicine today,” said Joe Wiley, CEO of Amryt Pharma. “If successful, it has the potential to be a breakthrough for patients with RDEB and other severe, life-limiting diseases for patients and their families.”



CEO Joe Wiley shares what’s in store for Amryt Pharma in 2018.


What is the company most excited about?

Our great hope is to address the needs of patients with the rare, debilitating, genetic skin condition, Epidermolysis Bullosa (EB), through our EASE trial – the largest, global, Phase III trial ever conducted in EB. We anticipate filing an IND with the FDA to enable the opening of US trial sites in Q3 2018, completion of an interim efficacy analysis in Q4 2018, with read out of top-line data anticipated in Q2 2019.

Our new in-license gene-therapy platform from University College Dublin (UCD), a non-viral gene therapy platform technology, offers a potential breakthrough therapy for patients with EB in the future. The platform may also be broadly applicable in other dermatological conditions.

We are also excited about commercialising AP101, our lead topical treatment in EB, pending its approval  in Europe and the USA in early 2020.

We have plans to study other severe partial thickness wound conditions such as Toxic Epidermal Necrolysis (TEN) / Stevens Johnson Syndrome (SJS) – a rare, serious disorder of skin and mucous membranes, to maximise the potential value of our AP101 asset.

Another priority is reaching more people living with the ultra-rare and life-threatening condition, Homozygous Familial Hypercholesterolaemia (HoFH) by continuing to drive momentum for Lojuxta.

The Company is actively negotiating national reimbursement decisions in a number of countries, some of which may materialise during the course of 2018. If successful, these market-access decisions will allow Amryt to provide access for a cohort of HoFH patients in these territories. In parallel we continue to see an increase in requests for individual patients, funded on a case by case basis across a whole range of countries across Europe, and the Middle East.

Lastly we intend to conduct various pre-clinical studies with AP103, our novel gene therapy platform, in the coming months and will report initial results in early Q4 2018.


How are you working in partnership with Amicus Therapeutics in EB?

Amicus granted Amryt unprecedented access to the data from its landmark Phase III clinical trial (ESSENCE) of SD101 in EB, which read out in September 2017. We are deeply grateful for this unique opportunity.

Based on the insights gained we are able to refine our protocol for the EASE trial which has the potential to increase the probability of success of the study.


What challenges do you face in the arena of rare and orphan diseases?

Conducting clinical trials in rare diseases where trials may not have been conducted before both in terms of trial design but also in terms of patient recruitment.

As a small organisation, managing the multiple hurdles to bring innovations to patients, to get products approved by regulators and subsequently reimbursed by governments around the world.

There is also the question of how evolving systems for appraising medicines in the rare disease space will work in practice. We hope they will deliver on making timely, flexible decisions to provide access to medicines for rare diseases.


How does your ‘think global, act local approach’ work?

We are a UK based company but our origins mean we have a deep understanding of what’s required and the nuances of doing business in the rare disease pharmaceutical space in Europe. We have ‘boots on the ground’ in the USA and in LATAM to understand the opportunity and meet with stakeholders while we continue our global EASE trial in EB. In the USA there are approximately 20 specialist centres focusing on EB, therefore it makes it easier for a small company like Amryt to work closely with them, offering the patients what they need as we seek to improve their quality of life, with more effective wound care.

We are proud of the team we have built. The company is chaired by a veteran of the industry, Harry Stratford, who built successful international specialty pharmaceutical companies, Shire plc and ProStrakan. Collectively the team has an impressive depth and breadth of experience across multiple geographies and therapeutic areas.