To Top

Policy Issues

NORD is committed to fostering a healthy and robust rare disease research environment. With close to 7,000 rare diseases without a treatment, the initial research that can later lead to a treatment or cure is especially important to the rare disease community. Learn more about NORD’s advocacy initiatives to maintain a strong environment for rare disease research.

The rare disease patient community relies on the National Institutes of Health to conduct or fund much of the essential basic and translational research on rare diseases. This research lays the groundwork for therapeutic development for neglected diseases with inadequate or no treatment.

The Human Genome Project, an NIH conducted initiative, mapped the human genome, allowing for the discovery of the genetic cause of thousands of rare diseases. By finding the root cause of a disease, the medical research and development community can develop targeted therapies for rare diseases that previously were a mystery.

The NIH also greatly influences the economy, as every $1 in NIH investment results in $2.21 in local economic growth. In 2012, over 400,000 jobs were supported by NIH-funded research, and the $4 billion investment the U.S. made in the Human Genome Project has resulted in an estimated $965 billion economic growth over the past 25 years.

Despite the clear health and economic importance of the NIH, funding has remained stagnant over the past ten years, resulting in a 25% loss in purchasing power. The NIH used to approve approximately one-third of all grant requests, but can now only approve one-sixth, due to funding shortfalls. NORD, along with its partner, Research!America, supports a strong, well-funded NIH, as the health and economic impact of the NIH simply cannot be overstated. We advocate that Congress, at the very least, allow NIH funding to keep pace with inflation, and recognize the critical importance of the NIH to the nation’s health and economy by prioritizing NIH funding in each budget cycle.

For more on NORD’s partnership with Research! America, please visit their website at

Established in 1993, and codified in statute by the Rare Diseases Act of 2002, the Office of Rare Diseases Research (ORDR) within the National Center for Advancing Translational Sciences (NCATS) coordinates rare disease research within the NIH. It also stimulates rare disease research outside of the NIH by providing logistical expertise.

The ORDR coordinates the Rare Diseases Clinical Research Network (RDCRN) and serves as the central locus of rare disease data and research expertise for rare disease researchers around the world. The ORDR houses the Genetic and Rare Diseases Information Center (GARD), the central hub for rare disease information.

NORD collaborates with the ORDR on various issues pertaining to rare disease research and patient care. Learn more about ORDR.

Established in 2011, the NIH National Center for Advancing Translational Sciences (NCATS) works to translate the findings of basic research into treatments or cures for diseases. This is important for the rare disease community because developing novel therapies can cost upwards of $1 billion dollars, and 95 percent of therapies fail in the lab or in clinical trials without ever reaching the patient. NCATS works to improve and accelerate this process by filling the gaps that exist in the current framework, and by researching innovative research and drug development techniques. This includes clinical trial design as well as efficacious biomarker and endpoint identification.

Learn more about NCATS.

Through its Therapeutics for Rare and Neglected Diseases (TRND) program NCATS encourages collaborations aimed at stimulating drug discovery and development research among NIH and academic scientists, nonprofit organizations, and pharmaceutical and biotechnology companies working on rare and neglected diseases.    NORD has partnered with the TRND program in developing a rare disease registry platform. Learn more about NORD’s registry initiative.

The U.S. needs more physicians and researchers educated in rare diseases. An increase in medical and scientific professionals with rare disease experience will lead to faster diagnoses, more efficient and effective care, faster discovery of cures, and overall benefits to the health system, as rare disease research will be more easily translated to more common diseases.

The federal government has various programs to provide incentives for medical professionals in training to enter certain specialties. NORD proposes that similar training and research incentives be established to encourage the study and research of rare diseases.  Options Congress could pursue include subsidized NIH training programs to encourage research into rare diseases and reform of the Graduate Medical Education (GME) system to provide incentives for medical residency programs on rare diseases.

While many important healthcare policy decisions are made in Washington, DC, state influence over rare disease policy is growing rapidly.  Find out what decisions are being made in your state capital, and how you can become a rare disease champion in your community.

NORD’s Rare Action Network™ (RAN) is the nation’s only advocacy network working at the state level to improve the lives of the 30 million Americans living with a rare disease. RAN serves a broad spectrum of stakeholders — from patients, their families, friends and caregivers to researchers, physicians, healthcare providers, industry and academia. While working predominantly at the state level, the network filters information to NORD’s federal policy team to help address issues of national concern.

The goals of the Rare Action Network™ are to:

– Connect a unified network of rare disease advocates to take action on issues impacting the lives of patients and caregivers affected by rare disease

– Increase the awareness of those challenges to key decision-makers and elected officials in the states or regions that can take action to make essential changes

– Address issues of access and coverage to essential treatments and therapies for patients at the state level

Learn more about the Rare Action Network.

While cost sharing reform efforts are underway at the federal level, there are also many state-based efforts to tackle high cost-sharing for specialty and orphan medications.

Several states have passed legislation mandating a cap on out-of-pocket costs for specialty medications. These caps range from $100 to $250 per month per specialty medication.  Several states are considering similar or identical legislation to that already passed in other states. NORD supports these initiatives, and has joined several state-based coalitions to support these bills.

Other avenues of state-based cost sharing reform include rulings from Departments of Insurance that would disallow egregious cost-sharing for certain target medications.

While these efforts are conducted on a state-by-state basis, NORD’s goal is to address high cost-sharing across the nation, whether by a broad federal approach, or by a targeted, state-by-state approach.

To learn more about how your state is doing in capping co-pays, check out NORD’s State Policy Progress Report.

Newborn screening is one of the most successful public health programs ever enacted, saving thousands of lives over the past 50 years. Newborn screening allows physicians to catch a heritable disease early and start treatment almost immediately following birth.  In this way, many of the worst effects of a disease can be mitigated.

Newborn screening programs are regulated and operated almost entirely at the state level, allowing customization of their program to the state’s specific needs. States decide what conditions to screen for and what regulations should surround the newborn screening program, including mandated times to complete the panel analysis and uses of blood spot data following the test.

NORD supports robust, well-funded newborn screening programs in every state, and encourages state lawmakers to prioritize the early detection of these debilitating diseases. NORD encourages every state to adopt the Uniform Newborn Screening Panel developed by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, and will advocate for this adoption in each state that currently does not screen for the disorders included within the panel.

To find out if your state covers the full Recommended Uniform Screening Panel, visit our State Policy Progress Report.

While much can be done at the federal level to increase access to medical foods, states also play an integral role in ensuring access to these critical therapies.

Since insurance is regulated primarily at the state level, many states have mandated the inclusion of medical foods within private plans sold within their state. These mandates are vital to ensuring access to medical foods, and NORD encourages all states to adopt similar mandates for the inclusion of medical foods in private insurance.

Inclusion of medical foods within each state’s Medicaid program is also essential, and only some states mandate its inclusion while many others do not. Some states also provide access to medical foods through public health programs.

Mandated coverage of medical foods in states is a big step forward, but many states place arbitrary quantity limits, age or gender limits on these coverage requirements.  NORD encourages each state to adopt coverage mandates for medical foods, and encourages states not to set arbitrary coverage limitations, as this often  defeats the purpose of the coverage mandates.

Learn more about your state’s efforts to mandate medical foods coverage in NORD’s State Policy Progress Report.

Following the 2012 Supreme Court decision to allow states to choose whether or not to expand Medicaid, many states have since expanded their Medicaid programs to cover all individuals below 138 percent of the federal poverty line.

There are still many states that have not expanded Medicaid, leaving approximately 5 million Americans without health insurance who would be eligible for Medicaid coverage. NORD strongly supports expanding Medicaid in every state, as it would increase access to needed health services and allow thousands of Americans with rare diseases to gain health insurance coverage.

NORD is working in tandem with other organizations to push for Medicaid expansion in every state.

Find out how extensive your state’s Medicaid eligibility is by visiting NORD’s State Policy Progress Report.

The federal government sets the general standards for Essential Health Benefits, and states choose a benchmark plan that fits within this framework. States also are allowed to require state-specific benefits within their marketplace plans.

This structure allows states significant flexibility in setting the minimum standards an insurance plan must adhere to. This is of great importance to the rare disease community, as rare disease treatments are often left off a plan, thus forcing patients and their families to  journey through an arduous appeals process, or pay the full cost of the treatment out of pocket.

This is why it is paramount for the rare disease community to work with state legislators as they set the minimum standards for health insurance coverage within their states. NORD will work with key state-based stakeholders to ensure the rare disease patient’s voice is included in discussions on minimum benefits.

As health insurance companies navigate the post-Affordable Care Act world, the industry is finding that many of its previous cost-cutting measures, such as discriminating against people with pre-existing conditions, are no longer allowed. Many insurance companies are looking for different ways to manage costs.

One growing tactic is the drastic narrowing of provider networks to trim costs and shift some of the payment burden to the consumer. While this may not greatly affect a healthy individual, patients with rare diseases can be impacted significantly by the removal of a physician or hospital from their health insurance network.

Rare disease patients must see specialists that are knowledgeable in their disease, and often must visit hospitals or clinics that are specially equipped to provide care for their unique situation. If a rare disease patient’s specialist or hospital is removed from their insurance network, they will likely be unable to pay out-of-pocket for the services, and thus risk losing critical care and treatments altogether.

NORD is troubled by this trend, and will work in the states to advocate for the prevention of the drastic narrowing of these networks.

One of the most pervasive issues plaguing consumers trying to purchase plans on the health insurance marketplaces is the lack of transparency on what the plans actually cover. Very few plans make their formularies publicly accessible.

This is especially problematic for patients with rare diseases, as they usually rely on at least one, but usually several medications for continued sustenance. Thus, it is important to know which plans contain a patient’s needed medication on their formulary.

NORD supports state-based efforts to mandate public, accessible formulary listings within each exchange to facilitate the purchasing of the most appropriate plan.

Rare Disease Day, celebrated annually on the last day of February, is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge.  Learn more about the History of Rare Disease Day, Past Successes and  the Goals and Plans for this year’s campaign.

Anyone can be involved in Rare Disease Day and there are many suggested activities. The day has been established as a grassroots advocacy day and we encourage everyone to participate!

For rare disease patients fortunate to have a treatment for their disease, there are still many barriers to accessing affordable and accessible care. From high drug costs, to insurance difficulties, to trouble finding a specialist, rare disease patients face unique hurdles to finding appropriate treatment. NORD is committed to breaking down these barriers and ensuring access to affordable treatment for every rare disease patient. Find out how we advocate for increased access to affordable treatments.

Historically, most prescription drug plans contained three tiers within their formularies: generic drugs, preferred brand name drugs, and non-preferred brand name drugs. These structures are usually characterized by an escalating co-payment as a beneficiary moves up the tiering ladder.

Starting with Medicare Part D, and later moving to private plans, a fourth tier, commonly known as the “specialty tier” was added. Instead of requiring a fixed co-pay, drugs placed within this specialty tier often required the beneficiary to pay a co-insurance, or a percentage of the drug’s cost, to obtain the drug.

This practice has been extremely detrimental to patients with rare and chronic diseases, as expensive drugs and biologics that are placed on a plan’s formulary are often placed on the specialty tier, requiring the patient to pay upwards of 40 percent of the drug’s full cost. Many drugs that treat rare diseases are quite expensive – sometimes over $100,000 annually.  Covering 40 percent of cost is simply unmanageable for most patients to pay out-of-pocket.

While many plans contain out-of-pocket maximums to curtail such out of control spending, out-of-pocket maximums generally apply only to drugs on the formulary, which often do not include rare disease therapies.

NORD advocates on several fronts for the elimination of egregious cost-sharing requirements.  We support federal legislation to limit these cost-sharing requirements in ERISA-governed plans and we support state efforts to limit the cost-sharing amount plans can charge within their state.   NORD believes that plans that place only therapies for rare and chronic diseases on these specialty tiers are discriminatory towards patients with such diseases, thus violating the Affordable Care Act’s non-discrimination clause.

The use of specialty tiers and co-insurance originated with the advent of Medicare Part D in the early 2000s. While the use of co-insurance has now also spread to private plans, the percentage of Medicare Part D plans that use co-insurance is rising rapidly, and now constitute the majority of plans.

While the Medicare Part D program has some built-in consumer cost controls, it still does not protect beneficiaries from exorbitant costs. Medicare Part D beneficiaries still must pay 45 percent of the negotiated price in the coverage gap (the donut hole), and then 5 percent co-insurance for all medications once the beneficiary has reached $4,700 in out-of-pocket spending that calendar year.

NORD believes this burden should not be placed on the shoulders of the patient, and supports reform efforts to rid Medicare Part D of prohibitive cost-sharing structures.

Medical foods are pharmaceutical grade treatments for various rare diseases, including inborn errors of metabolism, eosinophilic esophagitis, and epidermolysis bullosa. Medical foods can be ingested orally or enterally.

Medical foods are vital therapies for patients with these disorders,  as they  generally exclude  certain proteins that patients with these disorders cannot digest.  For example, patients with Phenylketonuria (PKU) cannot break down the amino acid called phenylalanine. If digested in patients with PKU, phenylalanine will build up in the brain and cause brain damage. Medical foods that exclude this damaging amino acid keep patients with PKU healthy and thriving.

Unfortunately, the US reimbursement system has not recognized medical foods as a vital and necessary treatment. There are too few reimbursement codes for the use of medical foods, making it difficult for patients to receive insurance reimbursement. Federal and state governments, as well as private insurance companies, have placed arbitrary caps on who can obtain medical foods, and how much. For example, the federal government only mandates the coverage of medical foods for children, and many states only mandate the coverage of medical foods for pregnant mothers and children even though PKU and many other inborn errors of metabolism are life-long disorders. Many states have placed arbitrary caps on the quantity of product patients can receive through insurance.

NORD supports expanding access to these vital and life-saving treatments, and rejects the notion that medical foods are not absolutely necessary for patients with certain rare disorders to thrive.

NORD supports a strong expanded access system to allow patients with life threatening diseases, who are unable to join a clinical trial, to access investigational therapies currently in FDA-endorsed clinical trials.

The current expanded access system represents a collaborative effort between patients, physicians, the pharmaceutical industry, and the FDA. Under the current system, if a patient and physician agree that a potentially lifesaving therapy is in a clinical trial, but they cannot join the trial, they can petition the drug company for access to the drug. The patient and physician must also determine there is no alternative treatment in existence.

Once the patient and physician have petitioned the pharmaceutical company, the company will assess whether the patient may benefit from the drug, whether there is no alternative treatment, and whether or not the patient is eligible for the ongoing clinical trials. If the company agrees, they will file a single-patient IND with the FDA with the conclusions of their assessment. If the FDA agrees with the physician and company’s assessment, they will approve the application. Following an IRB’s sign-off, the patient will receive the treatment.

While this system works most of the time, there are still hurdles that must be overcome. Often small companies do not have any extra product to give, and expanded access requests would siphon away product from the clinical trials. Companies are also concerned about adverse events in patients not in the clinical trials affecting the FDA’s review. There are cost concerns as well.

NORD strives to ensure that every patient receives the appropriate treatment to thrive, and we are committed to improving the expanded access system to help overcome these hurdles. NORD is working with the FDA and key legislators in an effort to improve the expanded access system.

Since the inception of Medicare Part D in 2003, the Centers for Medicare and Medicaid Services have recognized six classes of drugs that it deems as “protected”. When a class of drugs is protected, the private plans that participate in Medicare Part D must include all drugs within that class on their formularies.

The six classes of protected drugs under Medicare policy are anti-retrovirals, anti-depressants, anti-convulsants, anti-neoplastics, anti-psychotics, and immunosuppressants. These protections are essential for patients, as many of the drugs within these classes are not interchangeable, and access to all drugs within these classes is critical.  While NORD supports the continued protection for drugs within the six protected classes, NORD also supports the addition of a seventh class: orphan drugs. Currently, Medicare Part D plans are not required to include all orphan therapies on their formularies, often leaving vital medications off the formulary due to cost concerns. Unfortunately for the rare disease patients that rely on these medications, there are often no alternatives to these therapies, forcing them to hope the arduous Medicare appeals process will provide them access to the drug.

NORD supports the continued protection of the current six protected classes, and will fight any attempts to remove them. NORD will also continue to advocate for the addition of a seventh protected class for orphan therapies.

According to NIH, there are almost 7,000 identified distinct rare diseases, the vast majority of which are genetic in nature.  The Orphan Drug Act of 1983 has been a landmark success at making the development of orphan products a profitable venture, thereby driving industry to invest in research and development for rare disease treatments.

The approval of over 450 orphan drugs is a huge step in the right direction for the rare disease community.  However, these drugs are indicated for only about 350 rare diseases, leaving thousands of rare diseases without FDA-approved treatment.  In other words, providers must treat over 95 percent of rare disease patients “off-label,” using other drugs and methods to provide some level of care.

People with rare diseases often have difficulty being reimbursed for the care they receive because that care is “off-label” and may not be covered by health insurance.  This financial burden can be an enormous strain on patients and families, especially when the cost of off-label treatments runs very high.

Biologics represent the future of rare disease treatments. Harvested from living organisms, biologics treat rare and chronic diseases in an innovative and rejuvenating manner that small molecule treatments are unable to do. Biologics are especially promising, but they also require increased research and development time due to their extremely complex nature.

While biologics are successfully treating several rare and chronic diseases today, they are still relatively new. Because of this, very few biosimilars, or treatments that are derived from original biologics that will soon come off patent, have hit the market in the US. Zarxio, the first Biosimilar was approved in the U.S. in March 2015, brought with it a host of policy questions that must be answered.

One question that has emerged with regard to the labeling and marketing of biosmilars involves the naming of these products. Should biosimilars be allowed to use the same name as the derived biologic if they are deemed “interchangeable”? The problem with this that no two biologics are the same. Unlike small-molecule drugs, where the chemistry can remain the same between brand name and generic drugs, biologics and derived-biosimilars are “similar, as the name suggests, but are not of the same chemical entity.

NORD supports separate naming for biologics and biosimilars, as this will be critical in tracking biologics and biosimilars to ensure patient safety.

The rare disease population has representation in the FDA and the NIH.  However there is no such representation within the parent Department of Health and Human Services (HHS). NORD proposes the establishment of a Rare Disease Ombudsman within HHS to ensure that patients are not subject to barriers in accessing quality coverage for their unique healthcare needs.

The HHS Rare Disease Ombudsman also would play a role in ensuring that rare disease patients are accessing the necessary care through insurance plans offered under the state marketplaces.

Patient Assistance Programs (PAPs) serve a vital role in ensuring access to orphan therapies for rare disease patients. NORD pioneered Patient Assistance Services more than two decades ago and is well-recognized for its leadership within the rare diseases community. Since 1987, NORD has administered more than 380 patient assistance programs and millions of dollars in free drug and co-pay assistance.

On the regulatory front, NORD supports strong oversight of patient assistance programs by the appropriate regulatory agencies to ensure that only bonafide charities operate patient assistance programs. NORD will also work to ensure all private insurance companies accept patient assistance from charities in order to maintain patient access.

Health insurance plans within the ACA marketplaces are required to cover a set of “Essential Health Benefits”, or EHBs. These benefits span ten healthcare categories, such as hospitalization, mental healthcare, preventative and wellness visits, and prescription drugs. While the EHBs mandate the coverage of care within each of these categories, insurance plans have flexibility in their coverage design within categories.

NORD is supportive of the EHB model design but believes that  improvements must  be made to ensure care for patients with rare and chronic diseases. For example, plans are using utilization management policies to limit use of services, including step therapy, prior authorization, and fail-first policies. Plans are also limiting their formularies, narrowing their provider networks, and imposing prohibitive cost-sharing structures on many rare and chronic disease medications.

Thus, plans can adhere to EHB requirements while stringently limiting access to vital treatments. The egregious use of these utilization management techniques defeats the very purpose of the EHBs, and NORD supports efforts to limit their use in ACA marketplace plans.

The Social Security Administration administers two  programs to assist individuals with a disability, both established by law under the Social Security Act:

  • Supplemental Security Income
  • Social Security Disability Insurance

Both programs consult a listing of impairments that have sufficient medical evidence to qualify as disabling.  In other words, these impairments are severe enough to prohibit substantial gainful activity for a duration of no less than 12 months.

A subset of these impairments are ‘compassionate allowances’ made for conditions known to be chronically disabling that can be verified with minimal medical information.  These conditions, like most rare diseases, are often systemic, have no indicated treatment, and are genetic in nature.

The rare disease community remains hopeful that the compassionate allowances program will be expanded to include every rare disease that prohibits substantial gainful activity.  NORD will continue to support those hopes and work with our allies until this goal is accomplished. View the SSA’s Compassionate Allowance Program web page.

When a Medicare beneficiary is denied coverage of a prescription drug, the beneficiary can navigate the Medicare Appeals process to attempt to obtain the drug.

First, the beneficiary must request a coverage determination from their insurance plan, as a refusal at the pharmacy counter does not necessarily mean the drug is not covered. If the drug is  not covered, the beneficiary must then go through an appeals process which can involve up to five levels of review:  first, to the Part D plan they are enrolled in; if denied, then to an Independent Review Entity (IRE); next, a request for an ALJ Hearing with the Office of Medicare Hearings and Appeals.  The next level of review is an appeal with the Medicare Appeals Council and, finally, with the Federal District Court system.

This process is complicated and arduous and takes many months to navigate — time that many sick and disabled beneficiaries cannot afford to endure without their vital medications.

NORD supports a full review of the Medicare Part D Appeals process to determine how it can be improved so all beneficiaries can access their needed medications in a timely and affordable manner.

Much like the collection of health data, the delivery of health care is rapidly changing due to technological innovation. One innovative delivery model that shows particular promise for the rare disease community is telemedicine. As a member of the Advisory Board of the Alliance for Connected Care, NORD recognizes the importance of being able to access one’s physician outside of the hospital or doctor’s office.

Telemedicine is especially important to the rare disease community, as many rare disease patients must travel far to see physicians who specialize in their disease or disease area. This distance is often prohibitive in accessing treatment, and can create insurance reimbursement issues as well. In addition, many patients with rare diseases have severe physical disabilities, thus making even a limited amount of travel difficult. Telemedicine allows rare disease patients to receive consultation from their physician in the comfort of their own home, thus greatly improving access to care and to the quality of life of the rare disease patient.

Physicians must overcome several hurdles to use telemedicine effectively. First, physicians face steep reimbursement challenges, especially within the Medicare and Medicaid programs, as telemedicine is often only reimbursed for beneficiaries who live in very rural areas. Public and private health insurance models are also not adequately reimbursing for the physician’s consultative services, which makes up the vast majority of telemedicine services.

Second, there are different standards for telemedicine across health care practices and insurance plans. This exacerbates access and reimbursement issues, creating significant inequalities in accessing telemedicine across the nation.

Finally, to facilitate a greater use of telemedicine, the current medical licensure system must be reformed. Currently, State Medical Boards are responsible for setting licensing standards in each state, thus creating broad variation in application processes, fees, processing times, and requirements. Most states require a physician to be licensed within the state to practice telemedicine there. Thus, physicians who wish to practice telemedicine are required to obtain a medical license in each state where they have patients.

Together, these hurdles make practicing telemedicine extremely difficult, and limit access to physicians who may not be geographically close to the rare disease patient. To overcome these hurdles, NORD requests that Congress address the current reimbursement and licensing regulations to facilitate a greater use of telemedicine. For example, Congress could lift geographic restrictions for practicing telemedicine under Medicare and Medicaid, and ensure reimbursement for telemedicine under the Medicare and Medicaid programs.”

While the importance of developing novel biopharmaceutical treatments for rare diseases is well known, the development of diagnostics that can help speed early diagnosis appropriate treatment is often forgotten.

Reimbursement and coding systems for diagnostics need to be updated to reflect their importance. NORD supports greater attention being paid towards diagnostics, and works with regulatory agencies and legislative staff to ensure their efficacy is not forgotten.

Starting with the Orphan Drug Act in 1983, NORD’s mission has always included ensuring that the laws, regulations, and incentives surrounding the drug development process encourage orphan therapy development. For over 30 years, NORD has worked to strengthen the orphan drug development process. Click here to find out how we work with patients, patient organizations, Congress, the FDA, and the biopharmaceutical industry to strengthen the orphan drug development landscape.

The Orphan Drug Tax Credit is one of the most vital incentives for orphan drug development. Enacted as part of the Orphan Drug Act of 1983, which NORD’s founders helped spearhead, the Orphan Drug Tax Credit allows sponsors to claim a 50 percent tax credit on certain research and development costs for orphan drugs.

Coupled with the other various incentives contained within the Orphan Drug Act, the Orphan Drug Tax Credit has proven its efficacy. Over 450 orphan therapies have been developed by private industry since its enactment, compared to only ten therapies in the ten years prior to 1983. In 2013, one third of all drugs approved by the FDA were orphan therapies.

Despite the fact that the Orphan Drug Tax Credit is one of the few, if not the only, tax credits that saves lives, it is still in danger of repeal.

For more information on the importance of the Orphan Drug Tax Credit, read NORD and BIO’s white paper.

The Food and Drug Administration Safety and Innovation Act (FDASIA), enacted in 2012, reauthorized the user fee programs that help fund the FDA, and made several reforms to improve the FDA drug review process. NORD played an influential role in ensuring these reforms were passed by Congress and is committed to ensuring that FDASIA is fully implemented to the best of the FDA’s ability.

Several sections of FDASIA are of special interest to the rare disease community. Sections 901 and 902 contain language for the development of new, expedited review pathways – called Accelerated Approval and Breakthrough Status — for orphan therapies. Section 903 mandates that the FDA consult with outside experts on rare diseases during several periods of the drug review process. Section 905 contains language on the FDA risk-benefit framework, and section 907 requires sponsors to submit safety and efficacy data by demographic subgroup when submitting an application to the FDA. Finally, section 908 creates a priority review voucher that can be granted to sponsors who develop a treatment for a rare, pediatric disease.

There are other important provisions as well, including the establishment of the Patient-Focused Drug Development Initiative and section 1137, which facilitates patient participation in medical product review discussions.

NORD is committed to helping ensure that the sections of FDASIA that impact the rare disease patient are implemented fully and with the rare disease patient’s full participation.

NORD is committed to examining and improving all aspects of the drug development and review process, including the role that Institutional Review Boards (IRBs) play in developing clinical trials. While NORD recognizes the importance and absolute necessity of IRBs in protecting patient rights, we believe there is room for improvement in ensuring the current process allows safe and effective treatments to reach patients as quickly as possible.

Unfortunately the current system often serves as an impediment to the drug review process. As explained by Dr. Marshall Summar (‎Chief: Division of Genetics and Metabolism at Children’s National Medical Center) in recent testimony in front of the House Energy & Commerce Subcommittee on Health, “(The IRB) process is one of the greatest impediments and costs to rare disease clinical trials or indeed any clinical trials. One recent study required approval by more than 30 IRBs taking almost two years. The cost of our current system in hours, lost-productivity, delays, and frustration literally cannot be calculated. Surveys show that a majority of young investigators view the IRB process as a significant barrier and reason not to do research or pursue it as a career. The documents have evolved into a risk-defense system with consent forms for simple studies often exceeding 20 pages.”

NORD is in favor of developing an IRB process that would allow for IRB approval to be portable across different institutions, or would encourage the use of IRBs of record instead of small, localized IRBS. These reforms would greatly streamline, simplify, and de-risk the IRB process.

As founding members of the Alliance for a Stronger FDA, NORD has long advocated for FDA funding to match its responsibilities. The Alliance has been very successful in its advocacy as the FDA’s budget has increased substantially since the Alliance was founded in 2007.

Despite this, the FDA is still sorely underfunded compared to the responsibilities it has received from Congress. The FDA regulates 20 percent of the U.S. economy, and gains more regulatory responsibilities each year from Congress. It is essential that the FDA’s funding match its responsibility to ensure our drug review process stays strong.

Clinical trial design is of a paramount importance when developing any therapy, but is especially important for orphan therapies, where innovative trial designs are often needed to accommodate the small disease population. Many companies that are developing orphan therapies are also often small and inexperienced, with little practice in designing clinical trials in general, let alone trials for diseases that require an innovative design because of small and geographically dispersed patient populations.

Similarly, establishing an appropriate clinical endpoint can be especially difficult for studies involving rare diseases. All clinical trials must have agreed-upon clinical endpoint(s), intermediate clinical endpoint(s) (ICE), or surrogate endpoint(s) for FDA approval.

NORD is committed to collaborating with the FDA, the NIH, and all rare disease stakeholders interested in clinical trial design to ensure that the regulatory framework for clinical trial design keeps pace with innovative trial design proposals.

Regulatory agencies involved in the research, development, and approval of therapies have improved in engaging patient populations within the process, but NORD believes there is still much improvement needed.  We advocate that patients be regarded and treated as partners with the FDA in the drug review process.  At present, despite progress, patients are regarded as outside participants who are asked to occasionally consult on drug efficacy and effectiveness, usually under the auspices of the drug companies.

We urge FDA to standardize patient input within the drug review process. Currently, the level of patient involvement varies among review divisions. Patient contribution at regular and predictable times must be built into the process.  NORD believes that patients can make significant contributions in helping to evaluate the benefit-risk of a drug. Patients must be equal partners with the FDA and companies in making this assessment.