Why You Should Advocate for All Rare Diseases, not Just One

Marshall L. Summar, MD; Diane E. Dorman


December 08, 2014

Editorial Collaboration

Medscape &

This feature requires the newest version of Flash. You can download it here.

The National Organization for Rare Disorders

Marshall L. Summar, MD: I am Dr Marshall Summar, chief of genetics and metabolism at Children's National Medical Center in Washington, DC.

I am here for Medscape Rare Diseases, and we are here at the National Organization for Rare Disorders (NORD) Orphan Products Breakthrough Summit. Today I am talking with Diane Dorman, who is the director of public policy for NORD.

We just celebrated the 30th year of the Orphan Drug Act, and there has been a lot of activity in the field. There are new drugs, new therapies, new patients groups, and 7000 different diseases. Looking at the landscape of rare diseases from a national perspective, which is what you do on a regular basis, what do you see as some of the trends and the gaps that we still need to address?

Diane Dorman: There are a lot of amazing trends going on now. There is an increased focus on rare disease research, as well as the development of products for rare diseases. With all of that, however, come real challenges for the patient community, because although therapies may be available, often they cannot access them because of insurance issues and off-label issues. Approximately 80% of people with rare diseases are treated with off-label drugs.

Off-Label Drugs and Rare Diseases

Dr Summar: Can you elaborate on that?

Ms Dorman: The US Food and Drug Administration (FDA) approves therapies and the labels for those therapies. The insurers look at whether to reimburse, or decline to reimburse, for a therapy. If the patient's rare disease is not on the label as an indicated use for that drug, insurers can and often do deny the patient access to that therapy. Companies aren't willing to do the additional research required to change the label because the patient populations are so small.

Dr Summar: The expense would be high compared with actual benefit. What are the potential solutions?

Ms Dorman: We are talking with members of Congress on the Energy and Commerce Committee. They are interested in trying to find a solution. They understand those problems, because we have had lengthy conversations with committees of jurisdiction about the problem. Whether they can resolve it in the next couple of years is up to the members of Congress and how they vote. That is always the biggest challenge, but it has increased awareness of the issues, because they want to encourage the development of orphan products for rare diseases.

On the other hand, we also have to address some real challenges faced by the patient community from off-label use. A lot of insurers are now turning to specialty tiers, so rather than paying a small copay, patients are paying a percentage of the cost of the therapy.

If patients are faced with a copay of 50%-60% (and many of these orphan therapies are very expensive), it is a real roadblock to access for them. This is concerns us also, because if patients can't access the drugs because they are not being reimbursed, the companies won't realize a profit for these therapies, and they are going to stop innovating.

Somewhere along the line, we need to find a balance. We need to have that conversation with the entire rare disease community, because we want to encourage the basic research that is being done at National Institutes of Health (NIH), and at the other end we want to encourage the development of these therapies because the patients are hungry for them.

Building Regulatory Bridges

Dr Summar: I am in the clinical field of rare diseases, but when I work with clinicians, pediatricians, and internists in the field, there is a growing sense of frustration as they are trying to get their patients on therapies or get diagnostic tests that may involve genetics. There is a lot of pushback right now, and there seems to be a lot of uncertainty about what is and what isn't covered. What does that landscape look like?

Ms Dorman: I don't know whether I can predict looking forward into the next couple of years; there is a continuing challenge. I see the landscape improving, but we need to have that conversation with not only industry and the patient organizations but also the regulators. They have to realize that if there are delays in the clinical trial process, that delays access for the patients. We have to look at that.

Do we need to look at improving the regulatory process within the FDA? The National Center for Advancing Translational Sciences (NCATS) is doing some great things to try to bridge what they call "the valley of death." An integral relationship is being built between those two agencies, and increased communication between them is very important to the patient community.

Dr Summar: Those of us who take care of patients are becoming all too familiar with some of the Medicare and Medicaid rules. When you look at how those apply to rare diseases, historically my experience has been that it is not well considered in a lot of the policies and rules. Do you see that changing?

Ms Dorman: To a degree, I do. I have had a limited number of conversations with the Centers for Medicare & Medicaid Services, specifically with the chief medical officer with the Medicaid side. I said, "We need to talk about medical foods. There is a real problem with reimbursement for medical foods." He said, "Oh, we took care of that problem with phenylketonuria (PKU)." And I said, "No, there are other rare diseases—other important defects in metabolism and rare conditions that are dependent on medical foods. So that problem is not solved."

Increasing, those conversations with regulators and payers are very important.

Advocating for Rare Diseases

Dr Summar: What can the average physician do? Who should he or she talk to move this along?

Ms Dorman: They need to be more involved with their members of Congress. I encourage this with the patient organizations. You don't have to go to Washington, DC, to get to know your members of Congress. If physicians and researchers aren't talking with the members of Congress in their districts in their state (and I say the same thing to the patient community), they are not going to know what the problems are. We need to increase that communication, and it is beholden upon the entire community to do that.

Dr Summar: So people need to participate more?

Ms Dorman: Yes, they do. It is not scary. It is important, and it is a great role that the community needs to play.

Dr Summar: Diane, thank you so very much for taking the time to talk to us today. I would like to thank our readers. This is just one of the many things going on in the rare disease field. From policy to clinical and drug development, it is a very busy time in the field, and everyone in the field of medicine will be affected by it.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as: