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Rare Diseases

A rare disease is defined as a condition that affects fewer than 5 per 10,000 inhabitants in Europe or fewer than 200,000 Americans in the U.S.A.. They are mostly genetic diseases that can affect patients of any age, sex or ethnic origin and involve any type of medical specialization. Very often sufferers are newborns, children and young adults. Over 25 million people are affected in Europe alone. There are over 7,000 known rare diseases but today treatment exists for only  around 300 of these. An orphan drug is a medicinal product developed for the treatment of a rare disease. Patient numbers are so small that a rare disease is often not “adopted” by the pharmaceutical industry and hence the expression orphan drug.
Due to the extensive spectrum of existing diseases physicians may never see a patient with a rare disease. For that reason there’s always a risk that when a baby is born with a rare disease a correct diagnosis may not be made and appropriate treatment may not be provided.

The Recordati group operates in the rare disease segment worldwide through its dedicated subsidiaries Orphan Europe and Recordati Rare Diseases who share the conviction that each person with a rare disease has the right to the best possible treatment.
IN EUROPE (website)
Orphan Europe is a leading orphan drug pharmaceutical company in Europe dedicated to the research, development and marketing of treatments for rare diseases. It is one of the companies with most orphan drugs on the European market. The company markets treatments mostly for inborn errors of metabolism. Orphan Europe focuses on drugs for some of the most uncommon diseases. Orphan Europe has worldwide
coverage, through its subsidiaries all over Europe and in the Middle East, and through the presence of dedicated highly trained representatives, commercial agreements and to a direct distribution and packaging system able to deliver very small numbers of specialist products to people around the world.
Orphan drug specialists visit clinicians from many disciplines that diagnose and/or treat patients suffering from rare diseases. Hospital pharmacists, specialist nurses, biochemists and dieticians are also key contacts in these highly specialized disease areas. In addition to their medical and pharmacological knowledge of rare disorders the orphan drug specialists are also trained in all aspects of orphan drug development and
registration and are experienced in obtaining local reimbursement/funding for products.
In 2014 EURORDIS (European Organization for Rare Diseases) awarded Orphan Europe the prestigious EURORDIS Company Award for distinction in the field of rare diseases. The award recognizes Orphan Europe’s established track record in the field of orphan drug development. The award also distinguishes Orphan Europe’s engagement with the rare disease community in improving the diagnosis and management of these diseases. Orphan Europe achieves this through work to establish scientific networks,
engaging with patient organizations and its staff volunteering program.
Recordati Rare Diseases, the group’s American subsidiary offers a portfolio of products for the treatment
of a number of rare diseases as from 2013. Also in the U.S.A. the organization works closely with specialists,
healthcare professionals, patients’ families and patient groups to meet the needs of people affected by these diseases and to spread the scarce knowledge available. Recordati’s commitment to making its
products available to patients suffering from rare diseases was recognized by the National Organization for Rare Disorders (NORD) in the U.S.A. with its 2011 “Corporate Award”. This important award was granted in recognition of the introduction into the United States of Carbaglu®, the first specific treatment approved by the FDA (Food and Drug Administration) for NAGS deficiency, a very rare inherited metabolic disease.



CARBAGLU® carglumic acid Treatment of hyperammonemia due to N-acetylglutamate synthase deficiency (NAGS deficiency) and some organic acidaemias (isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia)

NORMOSANG/PANHEMATIN®   human hemin Treatment of acute attacks of hepatic porphyria 

COSMEGEN®   dactinomycin injectable Treatment of three rare cancers

CYSTADANE®  betaine anhydrous  Treatment of homocystinuria 

CYSTADROPS®   cysteamine chlorhydrate Treatment of the ocular manifestations of cystinosis

PEDEA®/NEOPROFEN®  ibuprofene iv Treatment of patent ductus arteriosus (PDA)

CYSTAGON® cysteamine bitartrate Treatment of nephrophatic cystinosis 

VEDROP® tocofersolan Treatment or prevention of vitamin E deficiency in paediatric patients and adolescents suffering from congenital or hereditary chronic cholestasis

CHEMET® dimercaptosuccinic acid (DMSA) Treatment of heavy metals poisoning

WILZIN® zinc acetate Treatment of Wilson's disease
The acquisition and diffusion of specific scientific knowledge is fundamental for the identification of a rare disease and is of great importance in the research for new therapies. Recordati is committed to support families suffering from the impact of a rare disease both through the research and development of new treatments as well as through the diffusion of knowledge within the scientific community.
Working in the field of rare diseases is an important responsibility to patients and healthcare professionals and we put this at the heart of our strategy. The Academy was launched to provide unconditional grants for training in rare disease. High-level courses are created under the authority of a scientific committee. The overall aim is to share experience in the management and outcome of rare disorders where individual experience is by its nature limited. The Academy offers specialists the opportunity to enrich their knowledge, develop new ideas and establish scientific relationships. Four live events are held each year bringing together clinicians and scientists from all over the world to discuss innovations and new diagnostic and management strategies. The Academy also provides online e-learning courses which aim to provide physicians, world-wide, with clinically useful and the most up-to-date information concerning current knowledge and recommendations for care.