Over 200 Million People Have a Rare Disease. This is How the FDA is Helping.

The FDA is putting patients with rare diseases front and center knowing that these patients have little support and in many cases cannot find specialists to diagnose and treat their disease.

According to an FDA bulletin, the agency is committed to servicing a large portion of the 250 million people in the world who have rare diseases. Over 7000 rare diseases have been identified worldwide.

In the United States, about 30 million people are listed as having rare diseases. These disorders can be disabling, debilitating, chronic, progressive and life-threatening.

Approximately eighty percent of all rare diseases are genetic. Children account for about fifty percent of these disorders.

The FDA and the Center For Drug Evaluation and Research are providing educational resources relating to rare disease topics.

The most basic topic relates to interaction with the FDA. It gives pointers on gaining access to new therapies that are under development.

The Orphan Drug Act (ODA)

If the disease and its drug meet the criteria outlined in the ODA, the agency will grant special status to the drug known as an orphan designation. This qualifies the sponsor of the drug who applied for the status to receive incentives that include tax credits for clinical testing.

The ODA defines “rare disease” as any disease that affects fewer than 200,000 people in the U.S.

The FDA is instrumental in promoting “orphan” medical products. It helps by expediting drug development and biologics such as a vaccine, tissues, cells, blood components, gene therapy, and allergenics as well as therapeutic proteins that can be used to replace abnormal proteins.

FDA Incentives (OOPD)

The list of FDA incentives that promote product development intended to treat rare diseases are offered through the Office of Orphan Products Development and include:

  • Funding clinical development of biologics, drugs, medical devices, and foods ;
  • The Orphan Drug Designation that is given to companies that offer financial incentives to develop products for rare diseases;
  • The Humanitarian Use Device designation granted for medical devices. The devices become eligible for marketing via the Humanitarian Device Exception Pathway; and
  • Grants to groups such as scientists, engineers, clinicians, and businesses (consortia) who are instrumental in promoting pediatric devices used in the treatment and diagnosis of rare diseases.

According to the director of OOPD, the agency has granted millions of dollars in support of clinical research. This includes approval of devices and orphan drugs for rare diseases.

The number of requests submitted to the Orphan Drug Designation Program has risen steadily over the years. In one year alone the FDA’s approvals saw a forty percent increase over the previous year.

The increase for medical devices is evident as well.

Prior to the passing of the Orphan Drug Act, only ten therapies for rare diseases were developed during a ten year period.

To keep up with the new demand, the OOPD revised its consortia program.

The approach, encompassing the scientists, engineers, regulators, and others who are part of the consortia, is now more holistic. The Consortia offers advice in all areas of development taking the device through prototype, animal and clinical testing, then it moves to commercialization.

A New Pediatric Program

OPD joined with two other agencies to administer a new pediatric disease voucher program that promotes the development of biologics and drugs designed to prevent and treat rare pediatric disorders.

In 2014 Vivizim was awarded the first voucher for development of a drug under this program. Vivizim is designed to treat patients who have Morquio A syndrome also known as Mucopolysaccharidosis Type IV. Morquio A is considered to be a rare type of metabolic disorder.

The Future

In another type of consortia composed of industry, patients, the FDA and researchers, the director said she believes that working together with an emphasis on benefiting the patients will make it possible to develop safer and more effective products to treat rare diseases.

Because patients play such a critical role in drug development the FDA has made it clear that it wants their input. The patients are in the best position to explain what is difficult and what risks they will take.

What have you noticed about the FDA’s efforts to expedite drugs to the marketplace?


Rose Duesterwald          July 4, 2019




Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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