About Rare Disease

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.or about 1 in 1,500 people. This definition is essentially like that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures.

In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people

One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.

However, the European Commission on Public Health defines rare diseases as "life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people. Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.

The definitions used in the medical literature and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.

  • 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases touch children.

Characteristics of rare diseases

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.


Common problems faced

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequlities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.


How can things change?

Although rare disease patients and their families face many challenges, enormous progress is being made every day.

The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most "recurrent" ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

However, the road ahead is long with much progress to be made

In 2013 More Than 450 Medicines in Development for
Rare Diseases
But there only few available in China

We are seeking the exist new Medicines treament to deliver therapies in China for rare diseases patients

Rare diseases are relatively new in China. Problems have arisen in low-level medical research and treatment, poor access to orphan drugs and lack of social security policies concerning rare diseases.

Chinese patients who live with rare diseases most approved treatment options not be available in China. In these cases, Chinese patients may not benefit from access to investigational new drugs and treament.

RDPOC works closely with pharmaceutical and biotechnology companies in China and We encouragement to find international cooperation to provide Chinese patients with information about clinical trials and also the exist new medicines treament to deliver therapies in China for rare diseases patients

We top strategic decisions to cooperate with the company’s rare disease research and development activities through the establishment of a gene therapy platform to investigate potential treatments for rare diseases patients in China.

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Event & News

BEIJING - Nearly 10 million patients suffering from rare diseases in China are facing difficulties receiving proper diagnosis and treatment,Some patients gave up treatment even though imported medicine was available, adding that costly drug prices as well as incomplete medical security are major barriers.

Contact

Would you like to know more about Rare Disease Patients Organization in China ? We gladly give you advice on placement, We aim to give you maximum If you have any questions or need more information, please call us directly or Email at any time.information@rdp.org.cn