Development of new diagnostic tools and treatments for people with rare diseases

Prof Hanns Lochmuller

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

Rare diseases – while individually uncommon – affect one person in every 17. 80% of rare diseases have a genetic component, and they include genetic kidney diseases like nephrotic syndrome and conditions like Huntington’s disease, ataxia and muscular dystrophy.

Today, the EU has announced 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects.

This will lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases.

The revolution in DNA sequencing, which means an entire human genome can now be sequenced within days and for less than 10,000 Euro, has brought the hope of personalized treatments for many of these diseases a step closer.

Professor Hanns Lochmuller of Newcastle University, UK, who is leading the new rare disease hub, said: “Being able to sequence a person’s entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story. It doesn’t replace clinical expertise – in fact, being able to combine genetic data with clinical data is more important than ever.”

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late-onset sepsis in premature infants of less than or equal to 32 weeks of gest - European Medicines Agency - Rare disease designations - EU/3/10/755

On 27 July 2010, orphan designation (EU/3/10/755) was granted by the European Commission to Schülke & Mayr GmbH, Germany, for octenidine dihydrochloride for the prevention of late-onset sepsis in premature infants of less than or equal to 32 weeks of gestational age.

What is late-onset sepsis?
Late-onset sepsis is a severe bacterial infection of the blood that occurs in newborn babies at least three days after birth. Premature babies born eight weeks or more too early (32 weeks of gestational age or less) have a higher risk of late-onset sepsis than other babies. This is because their immune system, skin and moist body surfaces are not yet fully developed, and because they need invasive procedures such as mechanical ventilation (using a machine to help them to breathe) or administration of medicines or feeding by injection, which can put them at risk of infections in neonatal intensive care units.
Late-onset sepsis is a life-threatening condition that is one of the causes of high mortality in premature babies born at 32 weeks of gestational age or less.

What is the estimated number of patients at risk of developing the condition?
At the time of designation, the number of premature babies born at 32 weeks of gestational age or less was estimated to be approximately 1.5 people in 10,000 in the European Union (EU)*. This is equivalent to a total of around 76,000 babies, and is below the threshold for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).
*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 27), Norway, Iceland and Liechtenstein. This represents a population of 506,500,000 (Eurostat 2010).

What methods of prevention are available?
At the time of designation, no satisfactory methods were authorised in the EU for the prevention of late-onset sepsis in these babies. Common infection-control measures such as hand-washing were used to keep the infection rate as low as possible in neonatal intensive care units. In some cases, antibiotics and skin antiseptics were also used to prevent infection.

How is this medicine expected to work?
Octenidine dihydrochloride is an antiseptic that has been available in the EU since 1997 in two medicines, which also contain alcohol, for disinfecting the skin and moist body surfaces in children and adults. Octenidine dihydrochloride works by blocking the growth of bacteria, fungi and other organisms that can cause infection.
This medicine is an aqueous solution of octenidine dihydrochloride. The absence of alcohol is expected to make it suitable for use on the sensitive skin of premature babies.

What is the stage of development of this medicine?
The effects of octenidine dihydrochloride have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with octenidine dihydrochloride in premature babies born at 32 weeks of gestational age or less had been started.
At the time of submission, octenidine dihydrochloride as single agent was not authorised anywhere in the EU for the prevention of late-onset sepsis in premature infants or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No141/2000-of 16 December 1999, the COMP adopted a positive opinion on 8 April 2010 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteriathe seriousness of the condition;the existence of alternative methods of diagnosis, prevention or treatment;either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.

EU/3/10/755: Public summary of opinion on orphan designation: Octenidine dihydrochloride for the prevention of late-onset sepsis in premature infants of less than or equal to 32 weeks of gestational age
http://www.ema.europa.eu/docs/en_GB/document_library/Orphan_designation/2010/08/WC500095702.pdf

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European Medicines Agency – Rare disease designations – EU/3/10/755