Edition of 04 December 2007

The Greek Alliance for Rare Diseases (GARD) recently held a conference at the Eugenides Foundation in Athens, under the auspices of Mr. Karolos Papoulias, President of the Hellenic Republic. The conference, Orphan Drugs: Access of Rare Disease Patients, was attended by Greek and foreign scientists, along with representatives from patient organisations and government. Aikaterini Karatza, from the Greek Ministry of Health and Public Affairs, made the day a true success by announcing the creation of the Hellenic National Health Plan for Rare Diseases. This plan will be part of the General National Health Plan and is scheduled to be officially launched by the Minister of Health on 29 February, 2008 at a special press conference. Details of the plan are to be developed by a committee consisting of members of the Ministry of Health, the Greek Alliance of Rare Diseases, and other national agents.

On 27 September, 2007 Public Law 110-85, The Food and Drug Amendment Act of 2007, was enacted. Title VIII of this law expands the types of clinical trials that must be registered in the National Institutes of Health (NIH) ClinicalTrials.gov database. This law also increases the number of data elements required, and requires submission of results data. Penalties can be levied for non-compliance with the law. A fact sheet on the new law is available on the clinicaltrials.gov website. The NIH has issued a guidance for the new requirements.

Lethal osteosclerotic bone dysplasia, or Raine syndrome, is an autosomal recessive disorder characterised by generalised osteosclerosis with periosteal bone formation and a distinctive facial phenotype. Affected individuals survive only days or weeks, due to respiratory insufficiency caused by thoracic malformation. The authors have identified mutations in two alleles of FAM20C in seven patients. FAM20C is a member of the FAM20 family of secreted proteins, and its mouse orthologue has demonstrated calcium-binding properties.
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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder associated with arrhythmias and sudden death. A recessive mutation in the gene encoding plakoglobin has been shown to cause Naxos disease, a cardiocutaneous syndrome characterised by ARVC and abnormalities of hair and skin. Now, the authors report a dominant mutation in the gene encoding plakoglobin in a German family with arrhythmogenic right ventricular cardiomyopathy, but no cutaneous abnormalities.
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Marfan syndrome is an autosomal domininat disease of the conjunctive tissues, due to mutations in the gene encoding fibrillin 1. Patients have increased aortic stiffness, contributing to dilatation and dissection. In a randomised, double-blind, placebo-controlled trial of 17 patients being treated with beta blockers, ten patients received 10mg/day of perindopril, an angiotensin-converting enzyme inhibitor (seven patients received a placebo). Perindopril reduced arterial stiffness and aortic root diameter. The authors specify that larger clinical trials are needed to assess the clinical benefit of this type of inhibitor.
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Juvenile idiopathic arthritis is a heterogeneous group of chronic inflammatory arthritis, with the first symptoms appearing before age 16. In a 24-week randomised clinical trial, anti-inflammatory sulfasalazine already demonstrated positive results in patients presenting oligo- and poly-articular onset juvenile idiopathic arthritis. The authors followed up patients who participated in this study for a period of 7-10 years. They showed that early sulfazalazine treatment has beneficial effects that last for several years.
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The authors evaluated the quality of written genetic test documentation for five different conditions intended for patients and their families in seven European countries. The majority of information addressed the effects of the illness, treatment, and genetic risks. Only half the information addressed ways to best obtain further information and support. Less than half of the documentation addressed post testing follow-up, patient rights, and decision taking by families and health professionals. Pre-written leaflets tended to provide a more comprehensive discussion of the issues surrounding genetic testing than personal letters did and should therefore routinely be available to patients alongside personal letters. Written information should include risks and limitations of testing as well as discussion of the psychological and social aspects of genetic testing.
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