Rare Diseases: A Catch 22 Dilemma


A guest speaker at the 2019 Rare Disease Forum recently held at the North Carolina Biotechnology Center acknowledged that screening is necessary to justify the need for a particular drug and the developer must have supporting data.

The other side of this catch-22 conundrum is that the developer cannot get supporting data unless they can screen a certain area of the population.

The Startling Number of Rare Diseases

At this juncture, approximately seven thousand rare diseases have been reported affecting over twenty-five million people in the U.S.

There are about 300 million rare diseases worldwide. However, only ten percent of rare disease patients are able to receive even minor relief through medications.

The forum discussions centered on how to accelerate the development of therapies for these diseases.

About the Voucher Program

One of the speakers was Dr. David Ridley who co-authored a publication leading to the FDA’s 2007 Administration Amendment Act.

The program reduces the time for the FDA to begin its review from ten months to six months. It does not establish requirements for the FDA to approve or deny approval of the drug within a set time period.

A unique feature of the voucher program is that a drug can “win” two vouchers. After the FDA approves treatment for a rare or neglected disease the developer is awarded a second voucher for priority review of another drug. This voucher can be sold. There is no requirement that the second drug should be for a neglected or rare disease.

This is valuable to both smaller and larger developers. The smaller developer may sell the voucher to a larger pharmaceutical company and the proceeds can be used for its continuing R&D.

The larger company would then have the advantage of using the voucher for one of its drugs that otherwise would not have qualified for a priority review.

A user fee of $2,457,140 must be paid to the FDA by the holder of vouchers. The fee provides additional resources for the FDA.

Dr. Ridley clarifies that priority review is not a fast track designation or accelerated approval. He gave some interesting statistics on the vouchers’ market value.

Dr. Ridley reported that the market value of vouchers fluctuates according to supply and demand. Since 2009, out of thirty-one vouchers that have been awarded, only fifteen have been sold. The sales prices ranged from sixty-eight to three hundred fifty million dollars.

Collaborations Pharmaceuticals (CP) Seeks Priority Review Vouchers

The founder of Collaborations Pharmaceuticals, Sean Ekins, Ph.D., explained his goal to those assembled at the forum which is to bring automation to the R&D of rare disease.

Dr. Ekins said that rather than work on one therapy for a disease, his company is working with multiple therapies that target multiple diseases.

Thus far, CP has not relied on angel funding or venture capital. The seven million dollars it raised to date was from sixteen federal grants. Dr. Ekins commented that the process of developing rare disease therapy should be made much more efficient. It lacks funding.

He offered examples of CP projects such as work on Ebola, Pitt-Hopkins syndrome, and Chagas disease.

The company is striving for additional Priority Review vouchers in order to sell and reinvest the funds into their work on rare diseases. CP currently has four Orphan Drug designations.

FDA Drug Approval Programs

Several programs for expediting approval of novel drugs include:

About Early Check

A public health analyst spoke about the difficulty of checking healthy babies for rare diseases. Each state has its own review process and determines what will be on the screening panel for newborns.

Early Check is a research program that provides screening for spinal muscular atrophy and fragile x syndrome. Mothers are encouraged to consent to the screening which does not require an additional needle puncture.

Some Success But a Long Road Ahead

Pediatric pulmonologist Dr. Jim Hagood spoke of new medications that have helped cystic fibrosis and spinal muscular atrophy patients.

Sharon King, whose daughter has been diagnosed with Batten disease, spoke about the critical need for public awareness. Sharon started a nonprofit called Taylor’s Tale to help combat this rare, fatal disorder.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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