Frequently Asked Questions
DEFINITIONS:
- What is an Orphan Disease?
- An orphan or rare disease is generally considered to affect fewer than 200,000 affected individuals in the United States. There are more than 7,000 rare disorders that combined affect over 25 million Americans and their families but relatively few have approved therapies, drugs or other treatments. The most complete listing of rare diseases can be found at http://rarediseases.info.nih.gov/.
- What is the Orphan Drug Act?
- The Orphan Drug Act was enacted in 1983, to encourage pharmaceutical companies to develop drugs for diseases that have a small market. Under the law, companies that develop orphan treatments may sell them without competition for seven years, receive tax credits for clinical trial costs, research grants, assistance in clinical study design, and a waiver of the filing fees normally paid to FDA.
- What is Accelerated Approval or Subpart H?
- In response to the AIDS crisis, in 2002 the FDA enacted Subpart H - Accelerated Approval of New Drugs for Serious or Life-Threatening Illnesses. This allows the FDA to grant marketing approval for a new drug product on the basis of clinical trials that establish the product has an effect on a surrogate endpoint or biomarker that is reasonably likely to predict clinical benefit or on the basis of an effect on a clinical endpoint other than survival or irreversible morbidity.
- What is a Biochemical Disease?
- Historically, biochemical disorders have been called “inborn errors of metabolism”. The breadth of these disorders is large but in general the diseases are caused by genetic defects for a metabolic enzyme that transforms one chemical in the body to another, which leads to an accumulation of a specific chemical or enzyme that is toxic or harmful to the body.
- What is a Surrogate Endpoint or Biomarker?
- Surrogate endpoints or biomarkers can be a test of a person’s blood or urine like a cholesterol level that measures an effect of the disease on body chemistry or function but not a clinical outcome like a heart attack.
PROBLEMS WITH DEVELOPING TREATMENT:
- Why are treatments still not being developed for many orphan diseases?
- There are many reasons. Some of the diseases are just too rare for most companies to invest in them. Some of the diseases are complicated or progress over long time periods, or are difficult to measure, making it hard to do the clinical studies. Some are not developed because the regulatory process that the FDA uses to evaluate the drugs can make it so uncertain and unpredictable it is just too hard, and so the program does not even start.
- Why are treatments for orphan diseases not being granted access to the accelerated approval process?
- Because the diseases are so rare, there is a lack of historical clinical data and a limited amount of clinical data that can be collected. Despite the sound scientific evidence that some biomarkers can be effective measures of biochemical diseases, under current rules a surrogate cannot be approved as an endpoint without more data.
- Where does the FDA currently review biochemical diseases therapies?
- They are reviewed in the gastroenterology division, the people that deal drugs that treat diarrhea and hepatitis. While they have good physicians there and have gained experience, a specialized unit that focuses on complex biochemical and genetic disorders could allow specialization and better knowledge and experience in the specifics affecting patients with those disorders.
- What’s wrong with the current structure of clinical trials?
- While traditional randomized, controlled studies have been used in rare diseases, this design is relatively insensitive to changes in heterogeneous patients and fails to allow the assessment of all types of patients with all types of disease outcomes. Variable and complex diseases often cannot be studied effectively with the current trial designs and often make the probability of knowing what the effects of treatment hard to demonstrate.
ABOUT US
- What is the Kakkis EveryLife Foundation?
- The Kakkis EveryLife Foundation is a nonprofit organization created by Dr. Emil D. Kakkis, M.D., Ph. D., to improve the diagnosis and treatment of the 7,000 rare disorders that affect millions of patients both in the US and around the world. The Foundation also supports the development of improved training for doctors of rare disease patients, and will continue to support the Society for Inborn Metabolic Disorders (SIMD) on a training initiative known as the North American Metabolic Academy or NAMA.
- What is the CURETHEPROCESS Campaign?
- The CURETHEPROCESS Campaign looks to work with scientists, doctors, parents, patient advocacy organizations and government, to create new science-driven public policy that will improve the regulatory process for rare disorders. Our goal is to give even the rarest diseases access to an accelerated approval process and fulfill more completely the original intentions of the Orphan Drug Act.
- Who is funding the CURETHEPROCESS Campaign?
- The Foundation was initially 100% funded by Dr. Emil Kakkis and is a nonprofit charity. If you would like to make a donation to our efforts, please visit http://www.kakkis.org/Donate/Donate.aspx.
- How Can I get Involved?
- Please sign up on our website at www.CURETHEPROCESS.org and stay informed.
