Two months ago, we gained a new colleague here at Next Phase. Steve Smith is our new Head of Rare Disease and Gene Therapy and his appointment started me thinking about the rare disease sector and how medical devices play a part here.
A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population, whilst the FDA define this as one that affects fewer than 200,000 Americans at any given time. Recent figures suggest that over 30 million people in the EU are affected by one of the 6000 existing rare diseases (a figure that is increasing all the time) 50% of which affect children only. These are diseases without a current cure and/or no way of alleviating their symptoms, leading to a short life expectancy and a poor quality of life. The pharmaceutical approach to this sector is more advanced than that of medical devices, with Europe lagging behind the US in the later also.
The main reluctance or under representation of medical device products in rare diseases sector is reported to be due to one of the three factors below;
- Due to a small patient population, the volume of production can be very low resulting in high costs
- Again, due to a small patient population little is known about the disease
- A lack of well-defined study end points due to a lack of precedents
However, it occurred to me that the problems highlighted above would also affect a pharmaceutical manufacturer and products are developing at a much faster rate than with medical devices. So, what is the problem?
Pharmaceutical companies making products for the rare disease market are more likely to benefit from exclusivity and due to the Orphan Drug Designation, within Europe and America, they will also benefit from a period of market exclusivity once outside of clinical trials – allowing them to re-coup the cost of development. Reimbursement seems to be a recurring theme and is a problem for both industries. In order to alleviate this, for pharmaceutical products, fast track processes have been set up by the EMA and the FDA. These allow for prioritisation through regulatory approval and marketing authorisation to get products to market and patients much quicker. Reducing cost, but more critically getting drugs to patients that sadly don’t have time on their side.
The FDA has followed suit in the medical device arena and in 1990 Congress passed the Safe Medical Devices Act, creating a similar fast track process called the Humanitarian Device Exemption (HDE). Manufacturers only need to prove that the device is safe and that it offers “probable benefit to health” for those suffering from a disease that affects less than 4,000 people in the US per year. Further bills have been passed to increase the number of devices eligible for the HDE, asking for the number to be reset at 8,000 or less patients per year.
Up to 2015, 69 devices had gained approval via this route, which is impressive when you consider that in 2012 the FDA listed only 56 approved devices in total for rare diseases. As patient populations are small proving effectiveness can be very challenging and some of the devices that came to market before 1990 had an arduous journey – with one reported study taking 13 years to gain regulatory approval. This device, with is a prosthetic titanium rib, used to save the lives of children suffering from thoracic insufficiency syndrome, has demonstrated clinical efficiency in cases numbering in the hundreds.
The FDA has also set up an Office of Orphan Products Development in order to facilitate incentives for those channelling research in this area and the Center for Devices & Radiological Health provide support and guidance with clinical trials and industry navigation.
The EU does not have such an expedited approval system for medical devices and there is a greater and greater demand for this to be implemented. Powerhouse patient advocacy group EURORDIS have joined the fight calling for the creation of a Humanitarian Medical Device approval process alongside a European Database for Medical Devices (EUDAMED) to be set up so that information and data can be shared among the appropriate authorities across the continent to move forward a best practice.
The devices I have uncovered during my research in the rare disease area are innovative and making a real difference to patients suffering from terminal conditions with debilitating symptoms. These range from a blood purification machine to remove lipoproteins from the blood of patients suffering from focal segmental glomerulosclerosis (FSGS) which causes scar tissue to form on the kidneys disrupting healthy function, a surgically implantable device (Argus II) to improve vision and reduce loss of sight in patients with retinitis pigmentosa; a genetic disorder that breaks down photoreceptors in the retina, a diaphragm stimulator to help sufferers of ALS who have problems with breathing unaided due to respiratory weakness and a device to help repair skin in the case of epidermolysis bullosa -an inherited disease that causes the skin to blister and break when it meets with minimal friction, leading to pain, infection and in the worse cases death.
Hopefully the EU will follow the example set by the FDA and assist in fast tracking devices for the rarest of cases in the near future.