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Editorial
- 6 July 2017
- Orphanet News
Political news
Scientific news
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Edition of 06 July 2017

International News

Thalassemias in South Asia: clinical lessons learnt from Bangladesh

According to a review published in the Orphanet Journal of Rare Diseases, Bangladesh lies in the world’s thalassemia belt. Information on different aspects (epidemiology, clinical course, mortality, complications and treatment outcomes) of thalassemias is rare. The authors depict the epidemiological aspects of thalassemias, mutation profiles and current treatment and management practices in the country by sharing the experience of dealing with 1178 cases over the time period of 2009–2014 in a specialized thalassemia treatment centre. They also discuss the preventative strategies in Bangladesh, which could be effective for other developing countries.

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European News

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

A study published in the Orphanet Journal of Rare Diseases provides the first national-level data concerning rare diseases of the head, neck and teeth and assesses the balance between demand and supply of care in France. The authors analysis focuses on 2008 to 2015 data, selected using the Orphanet nomenclature. They found that in the Paris Region, the estimated prevalence of these diseases was 5.58 per 10,000 inhabitants with 11,342 patients referenced in total in France, of whom 7294 were in Paris Region. More than 580 individual clinical entities based on the ORPHA code were identified with their respective frequencies. Nearly 80% of patients recorded come to Parisian hospitals to obtain either diagnosis, care or follow up. The authors observed that the rarer the disease, the more patients were referred to Paris hospitals. The authors believe that despite a well developed health network aimed at responding to the various challenges raised by the rarity of these diseases, there is still a noticeable imbalance between health care supply and demand, both in terms of diagnostics to research, in this area in France.

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European Reference Network

Publication of the report on the 3rd conference on European Reference Networks

The 3rd official European Reference Networks (ERN) conference took place in Vilnius, Lithuania, on the 9th of March. The report has now been published. The main conference consisted of the opening addresses, followed by four multistakeholder roundtables dedicated to the following topics: organisation and management of ERNs; EU policies and supporting Actions to ERNs; ERNs and national healthcare systems; and the way forward for the new ERNs.

Read the conference report
Read the article on that conference published in OrphaNews on 23 March 2017
Read more

Ethical Legal Social

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients

A study published in the Orphanet Journal of Rare Diseases aimed to help patients with rare diseases, such as congenital hypogonadotropic hypogonadism (CHH) and congenital hypogonadotropic hypogonadism with anosmia (Kallmann syndrome), find accurate information. They used the best available evidence and community partnerships to produce patient education materials and to evaluate end-user acceptability. For this purpose they consulted clinicians, researchers and patients to create the materials in a multi-step process. According to the authors the co-created patient education materials reached the target 6th grade reading level. They also conducted an online survey which received 164 hits in 2 months and 40% of eligible patients completed the evaluation. Patients ranged in age from 18 to 66 years and 83%, had adequate health literacy. The patient education materials were culturally adapted and translated into 20 languages.

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Orphan Drugs

EMA recommends Oxervate for the treatment of moderate or severe neurotrophic keratitis

The European Medicines Agency (EMA) has recommended granting a marketing authorisation in the European Union (EU) for Oxervate (cenegermin) for the treatment of moderate or severe neurotrophic keratitis, a rare eye disease that can lead to loss of sight. Patients with neurotrophic keratitis have damage to the trigeminal nerve which results in reduced or lack of sensation in the cornea and reduced production of the substances that play an important role in repairing damage and ensuring survival of cornea cells. There is currently no satisfactory treatment for neurotrophic keratitis. Depending on the stage of their disease, patients may be given eye drops to moisten the eye, antibiotics for eye infections, and protective contact lenses. Where appropriate, they may undergo surgery.

Oxervate is a copy of a human growth factor called nerve growth factor. When given as eye drops to patients with neurotrophic keratitis, it is expected to help restore some of the normal healing processes in the eye and repair the damage to the cornea. Oxervate is produced by ‘recombinant DNA technology’. It is made by bacteria into which a gene (DNA) has been introduced, that enables the bacteria to produce human nerve growth factor.

FDA approves drug to specifically treat giant cell arteritis

The U.S. Food and Drug Administration (FDA) expanded the approved use of subcutaneous Actemra (tocilizumab) to treat adults with giant cell arteritis. This new indication provides the first FDA-approved therapy, specific to this type of vasculitis.

Giant cell arteritis is a form of vasculitis, a group of disorders that results in inflammation of blood vessels, causing the arteries to narrow or become irregular, impeding adequate blood flow. In giant cell arteritis, the vessels most involved are those of the head, especially the temporal arteries (located on each side of the head). For this reason, the disorder is sometimes called temporal arteritis. However, other blood vessels, including large ones like the aorta, can become inflamed in giant cell arteritis. Standard treatment involves high doses of corticosteroids that are tapered over time.

Subcutaneous Actemra was previously approved for the treatment of moderate to severely active rheumatoid arthritis. Intravenous Actemra was also previously approved for the treatment of moderate to severely active rheumatoid arthritis, systemic juvenile idiopathic arthritis and polyarticular juvenile idiopathic arthritis. Intravenous administration is not approved for giant cell arteritis.

The FDA granted this application a Breakthrough Therapy designation and a Priority Review.

Registry

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

A study published in the Orphanet Journal of Rare Diseases analyses the Hunter Outcome Survey (HOS) which has collected real-world, long-term data on the safety and effectiveness of an enzyme replacement therapy with intravenous idursulfase, as well as the natural history of MPS II. Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Individuals with a confirmed diagnosis of MPS II who are untreated or who are receiving/have received treatment with idursulfase or bone marrow transplant can be enrolled in HOS. The authors believe that evidence generated from HOS has helped to improve our understanding of disease progression in both treated and untreated patients and has extended findings from the formal clinical trials of idursulfase. These have resulted in changes to the HOS database platform, and novel approaches to maximize the value of the information collected will also be needed in the future. The authors believe that "the continued evolution of the registry should help to ensure that HOS provides further insights into the burden of the disease and patient care and management in the coming years."

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Summary of the edition of 06 July 2017

Editorial
- 6 July 2017
- Orphanet News
Political news
Scientific news
And also...