Rare diseases EU definition

Six-year-old Pierre has Angelman Syndrome, a disease which causes severe developmental delay. Its prevalence is about one in 15 000

The European Commission is increasingly supporting collaborative initiatives focused on research into treatments and drugs for rare diseases, but lack of funding continues to be an issue. Gary Humphreys reports.

“It was like being hit by a tsunami.” French mother of three, Béatrice de Montleau, vividly recalls the day she learned that her four-year-old son had Duchenne muscular dystrophy, a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting. The disease primarily affects males and onset occurs early. People with the disease usually die in young adulthood, succumbing to cardiomyopathy, the effect of the disease on the heart muscle, and respiratory failure. Treatment with steroids offers some relief, but there is no cure. “For a time I was just in shock, ” says de Montleau. “It was devastating.”

With an estimated incidence of 1 in 3300, Duchenne muscular dystrophy is considered a rare disease, one of several thousand classified as such. Estimates vary as to exactly how many rare diseases there are, partly because countries define rare diseases differently. “In European Union (EU) countries, any disease affecting fewer than 5 people in 10 000 is considered rare, ” explains Antoni Montserrat Moliner, policy officer at the Directorate of Public Health at the European Commission in Luxembourg. Most patients suffer from diseases affecting 1 in 10 000 or less. According to the European Medicines Agency, there are between 5000 and 8000 distinct rare diseases in the EU, affecting between 27 and 36 million people.

Rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15 000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people.

Aurelie Trahard

Six-year-old Pierre has Angelman Syndrome, a disease which causes severe developmental delay. Its prevalence is about one in 15 000

While the parents of children with rare diseases may initially be isolated by grief, they soon realize that talking to people going through similar experiences is invaluable. “They have to reach out, ” says Paloma Tejada, communications director at the European Organization for Rare Diseases (EURORDIS), a nongovernmental, patient-driven alliance of patient organizations and individuals active in the field of rare diseases. For her part, Béatrice de Montleau reached out to the French Muscular Dystrophy Assocation, Association Française Contre les Myopathies.

You might also like
Rare Disease Day Scripps Florida - MdDS
Rare Disease Day Scripps Florida - MdDS
Senator Jillian van Turnhout - Rare Diseases: Motion
Senator Jillian van Turnhout - Rare Diseases: Motion
Doenças Raras [Rare Diseases]
Doenças Raras [Rare Diseases]
Antrodia Cinnamomea Liquid Pure Extract - 25 g/L of polysaccharides per serving - SGS Certified, cGMP Certified, Guaranteed Authentic, 99.6% rDNA Proven Genuine - 30 bottles, 20ml per bottle - Made in Taiwan.
Health and Beauty (CGB Corp.)
  • Antrodia cinnamomea, formerly named Antrodia camphorata, is a rare medicinal mushroom well-known for its effects on a number of health conditions. Its rich composition...
  • Antrodia cinnamomea is only found in Taiwan s endangered tree, Cinnamomum kanehirai, at altitudes of 450-2 meters in low-elevation mountainous terrain. This specific...
  • Proven through molecular identification, our Antrodia Cinnamomea has a 99.6% similarity in rDNA sequence compared to the wild-type strain grown in Taiwan, listed...
  • You Deserve Safety & Quality: Safe and all natural products. No chemicals, preservatives or additives in any offering! CGB s State-of-the-art Research Center...
  • MADE IN TAIWAN (NOT CHINA) Repeatedly named a top 3 most trusted and recognized brand by Business Today Taiwan, Chang Gung Biotechnology Corp s has over 90 health...

Dragsbaek: 5 public health threats scarier than Ebola  — Longview News-Journal
Children died not from a rare infectious disease but from a vaccine-preventable disease that we didn't protect them from. 2. Pertussis: In 2013, Texas reported 3,985 cases of pertussis, or whooping cough — more than any other state in the U.S.

Related Posts