Rare Diseases

Worldwide, approximately 350 million people are affected by a rare disease. More than 30 million of those are in the United States and over 20 million live in Europe. Of those 350 million, over 35% are children, most of which will not live past the age of 5. That’s just not good enough.

A rare disease is defined in the United States as a disease that affects fewer than 200,000 Americans and in Europe as affecting fewer than 5 in 10,000 Europeans. Most of those diseases are of genetic origin and are chronic and life threatening.

  • Rare diseases affect over 350 million people worldwide
  • Over 35% of those effected by a rare disease are children.
  • There are an estimated 7,000 RARE DISEASES with less than 500 FDA-approved treatments.
  • There are over 500 orphan cancers.
  • Many RARE DISEASES result in premature death of infants & children or are fatal in early adulthood.
  • Patients with RARE DISEASES are frequently misdiagnosed or sadly undiagnosed.
  • 80% of rare diseases are genetically based.
  • There are more Americans who live with a RARE DISEASE than ALL of those who combined have HIV, Heart Disease or Stroke.

Regulatory Affairs

The incentives started in 1983 when the United States passed the Orphan Drug Act (ODA) followed then by Japan in 1993 and the European Union in 2000 with the Committee for Orphan Medicinal Products.

While in the US, an Orphan Drug Designation (ODD) Application is reviewed and decided upon by the Office of Orphan Products Development (OOPD), in Europe, the application is reviewed by the Committee for Orphan Medicinal Products (COMP), yet the final decision is made by the European Commission.

There are no statutory guidelines for review by the OOPD, however they have set a goal to review at least 75% of applications in 120 days. The EMA has statutory procedures in place and an application is decided upon in 90 days. In addition, the EMA provides validation and evaluation updates, allowing for Sponsor input throughout and up until the opinion is forwarded to the Commission.

  • Recently, more than 1/3 of all NEW drugs approved by FDA have been for rare diseases.
  • In 2015, 31% of novel drugs were designated by CDER as Fast Track.
  • 53% of novel drugs in the US 2015 were designated Priority Review.
  • In the last twelve months, 35% of Breakthrough Therapy Designation Applications were granted.
  • 47% of novel drugs in 2015 were approved to treat orphan diseases that affect less than 200,000 or fewer Americans.
  • Presenting inadequate scientific rationale is one of the most common mistakes seen on orphan drug applications presented to both the FDA and EMA.


  • To date, the European Commission has already authorized 122 orphan medicines.
  • The European Commission has designated 1363 products as orphan medicinal products.
  • In February 2016, the EMA launched a similar program to the FDA’s Breakthrough Therapy Designation program, known as PRIME.
  • 27% of PRIME applications submitted since launch have been granted.


What are the benefits of an Orphan Drug Designation?
If your orphan drug application is approved, your asset will then receive:

  • Seven years of marketing exclusivity
  • Protocol assistance
  • Tax credits covering up to 50 percent of clinical trial costs
  • Eligibility for research grants to help fund clinical investigations for orphan products
  • Waiver of the PDUFA application fee (a benefit worth more than $2,000,000)
Do I need to have clinical data, to request an orphan drug designation?
No. In most cases, efficacy data in an applicable animal model will suffice for gaining an orphan drug designation.

Not sure if you have the right data? Ask us.
Is the procedure for an ODD submission in Europe, the same as in the US?
No. The procedure for which the EMA reviews, designates or denies an application is very different and more process driven, with statutory guidelines in place.

Have additional questions about EMA guidelines? Contact us.
Does an Orphan Drug Designation require electronic submission?
No. As of 2016, an FDA Orphan Drug Designation is not required to be submitted electronically. However, feel free to submit your application electronically on a single CD-ROM disk, with a signed cover letter.
Can I ask the FDA for advice on requesting a Breakthrough Therapy Designation?
Yes. In 2016, the FDA put into place a preliminary assessment step in requesting a Breakthrough Therapy Designation. This assessment includes a Preliminary Breakthrough Therapy Designation Request (BTDR) Advice form. This is a two-page form that allows the Sponsor to highlight key data from clinical trials that is believed to be strong enough to meet the requirements for a Breakthrough Therapy designation.
Does the EMA have a guidance for Agency meetings similar to that of the FDA?
No. While the FDA has a “Guidance for Industry Formal Meetings between the FDA and Sponsors,” the EMA does not. In Europe, you can request meetings as developments advance and questions arise. Just remember, it is important to ensure strategy and meeting topics are notable and presented with a sufficient package.
What is the review process for an Orphan Drug Designation at the OOPD?
Once the OOPD receives your application, it will be assigned a designation application number, logged into a database and an acknowledgement letter will be sent to you. Following this the application will go through three rounds of review: OOPD Reviewer, OOPD Team Leader Review, and finally a review and decision by the OOPD Office Director. Depending on the final decision, you will notified via a formal letter.
When can I apply for Fast Track Designation?
You can apply for Fast Track designation at the time of IND submission, or any time after.
What is PRIME?
PRIME is a scheme launched by the EMA similar to that of the FDA’s Breakthrough Therapy program. PRIME stands for PRIority MEdicine and comes with a number of benefits provided by the EMA. In order to be accepted for PRIME a medicine must show its potential to benefit patients with unmet medical needs which would be based on clinical data.
Which EMA Agency is responsible for assistance and review of a Peadiatric Investigation Plan (PIP)?
The European Union established a Paediatric Regulation in January 2007, with an objective to improve the health of children (aged 0-17) by assisting the development and availability of medicines.

This regulation established a new committee known as the Paediatric Committee (PDCO). PDCO’s main role is to determine the studies that companies must carry out on children as part of paediatric investigation plans (PIPs).
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