Talking about rare disease

  • Letters
  • Monday, 13 Aug 2018

HUNTER might sound like a cool name for a character in a World of Warcraft or Marvel Universe movie but in medicine, it is not. It’s the name for an incurable disease that can befall children as young as 18 months old.

The name is alien not only to the public as even clinicians might also be hard-pressed to recall that it refers to an inherited genetic disorder caused by a malfunctioning or missing enzyme. Because there aren’t enough of the enzyme to break down certain complex molecules, these molecules build up in harmful amounts. The massive build-up would eventually cause permanent and progressive damage, affecting the appearance, mental development, organ function and physical abilities of the patient.

By the time of death, most patients in advanced stage would have severe mental disabilities and are completely dependent on their caregivers. There is no cure but early treatment could slow the progression of the disease by increasing the amount of the missing enzyme in the body.

Hunter disease belongs to a group of diseases loosely named as rare diseases. The group moniker comes from the rarity of the disease among the population. The Malaysian Rare Disorder Society (a voluntary organisation that represents the patients and families) defined it as “diseases that affect less than one in 4,000 population”. In comparison, diabetes affects one in five of the Malaysian adult population. In the whole of Malaysia, there are only 39 confirmed patients with Hunter disease.

Families of rare disease patients often have to undertake a long and challenging odyssey before obtaining treatment for their loved ones. Due to lack of expertise and testing equipment, diagnosing them can take more than five years. Untill then, many have to be content with accepting a “mysterious” disease diagnosis to explain the illness.

The dearth of information and lack of shoulder to lean on puts a huge psychological, emotional and financial impact on the family and caregivers. Their journey doesn’t end with the diagnosis, as treatment is rarer than knowledge about the condition.

Because of its infrequency, there is a lack of “demand” for the medicine compared to other more common diseases. In other words, the market size and potential “customer” base for rare diseases is much smaller compared to other diseases. Hence, there is a lack of economic incentive for the (pharmaceutical) industry to develop drugs for rare diseases.

The lack of interest by the industry to “adopt” the drugs led them to being named as orphan drugs. According to the Pharmaceutical Research and Manufacturers of America, a trade group representing companies in the pharmaceutical industry in the United States, of the 7,000 known type of rare diseases, therapy is only available for 400 of them.

As such, many countries have decided to encourage the development of orphan drugs by providing sufficient economic incentives to the industry. These include providing tax breaks, lower fees, research support, and a seven-year exclusivity period for emerging therapies.

For drug developers, these incentives are highly attractive. This package includes a 50% discount on research costs, which equates to US$30mil a year in grants and fee waivers.

In 1983, the US government legislated the Orphan Drug Act. The introduction of such a package in the formation of the Orphan Drug Act in the US led to the development of more than 250 orphan drugs as compared to only 10 before its legislation.

Similar regulations introduced in the European Union saw 65 drugs being introduced between January 2010 and July 2011.

However, creating incentives for the industry to develop treatment for rare disease is just one part of the equation. The real challenge is ensuring that it remains accessible to the patients. The high price of the medicine is not only beyond the reach of individual patients but also to many government healthcare funds. As such, it is not surprising that many rare disease patients are untreated despite the availability of the treatment in the market.

In fact, less than half of the patients diagnosed with Hunter disease in Malaysia received treatment. The government needs to explore innovative ways (such as creative market access agreement or special allocation of funds) to increase the fiscal space for treatment of rare disease. Proactive dialogues with important stakeholders in the market, including patients, industry, clinicians and researchers, should also be done to understand the challenges of rare disease patients and to facilitate them in their journey to receive the appropriate care.

The Institute for Democracy and Economic Affairs is currently spearheading such an initiative and will be hosting a “Rare Disease Symposium: Challenges and Solutions” on Aug 16. The symposium is expected to be attended by leading figures and policy makers in the management of rare disease.


Universiti Sains Malaysia

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