Guest Blog–A global fight against rare diseases/disorders




Rare diseases matter. Remco de Vrueh, Founder of the virtual research platform Rare Disease Matters has kindly allowed me to post his most recent blog that highlights the global distribution of rare diseases and that the orphan drug development "buck" does not stop with the US, Europe and Japan.

It is my pleasure that Remco will once again be a member of the 60+ expert speaking faculty who will lead this years World Orphan Drug Congress taking place in Geneva on the 29th-30 November 2012. Remco will be speaking in the Clinical Development & R&D Track and will focus on "Navigating orphan drugs through the regulatory maze: successes, failures and lessons learned". Please enjoy Remco's guest blog below and comments of course are welcome.

"China has joined the fight against rare disorders"

The occurrence of rare disorders doesn't stop at the US, Japan or EU border, but affect people all over the world. To be most effective, countries across the globe should join the fight against rare disorders. I provide preliminary data that, apart from western world countries and Japan, other countries have also stepped into the arena thereby really making it a global fight against rare disorders.

About a week ago I was having a look at a list of countries ranked according to number of medicine-related publications between 1996 and 2010 (SCImago Journal & Country Rank). What struck me the most was that, compared to 1996, in 2010 the top of the list was no longer the exclusive domain of western world countries and Japan. China entered the Top-10 (rank 4, behind the US, UK and Germany), and going down the list I also noticed that Turkey, South-Korea, India and Brazil had really "upgraded" their medicine-related scientific output and even surpassed several western world countries.

This intriguing development encouraged me to find out if the area of rare disorders is following the same trend. To obtain a first impression I prepared a dataset of 88 rare metabolic disorders with a prevalence of 0,1 – 50 patients per 100,000 inhabitants (Source: Orphanet). Next, I used PubMed, the world's largest repository of biomedical citations, to determine for every "SCImago" top-15 country (1996 and 2010) the total scientific output of the 88 rare metabolic disorders in the period 1996-2011. To achieve my goal I prepared for every disease a PubMed search string according to Heemstra et al. [2009], and via concatenation I combined these search strings into one "all-inclusive" search string and performed the country-specific searches in PubMed.

Although, as you can imagine, the whole exercise has been quite time-consuming, the overall outcome is certainly worthwhile. The two figures below provide a list of the Top-15 countries and their relative contribution to the total scientific output for the 88 rare metabolic disorders at the start (1996-1998) and the end (2009-2011) of the study period, respectively. Comparing the two figures immediately reveals that between 1996-1998 and 2009-2011 Turkey, South-Korea, India and Brazil have surpassed Israel, Sweden, Switzerland, Belgium and Denmark. China did even better and has entered the Top-10.

View figure 1 here

View figure 2 here

It may sound strange, but I actually regard this trend as a blessing in disguise. Why ? Because a closer look at the raw data reveals an increased scientific output for almost every country included in the study. It's just that the scientific output by Turkey, South-Korea, India, Brazil and especially China is increasing at a much steeper rate than the western world countries and Japan.

This trend combined with other recent developments (see list below) clearly demonstrates that China has joined the fight against rare disorders.

With countries like Brazil, Turkey, South-Korea, and India also joining it is really turning into a global fight. This will certainly make a difference in the lives of rare disease patients around the world.

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