Trade Group Study: Hundreds of Rare Disease Drugs in Development

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According to a new report released last month by the trade group Pharmaceutical Research and Manufacturers of America (PhRMA), the biopharmaceutical pipeline is innovative and robust, with a high percentage of potential first-in-class medicines (meaning a new treatment where nothing currently exists) targeting diseases with limited treatment options. In addition to identifying medicines in development for conditions and diseases such as septic shock, ovarian cancer, sickle cell disease, and Lou Gehrig’s disease (amyotrophic lateral sclerosis), which haven’t had any new product approvals in the last ten years, the report offers positive news for the rare disease community: one third of the products currently in clinical development have a rare disease designation by the U.S. Food and Drug Administration (FDA).


A rare disease, also called an orphan disease, is any disease that affects a small percentage of the population. In the United States, the Rare Diseases Act of 2002 defines a rare disease according to prevalence, specifically any disease or condition that affects less than 200,000 individuals in the country (~1 in 1,500 people). The 2002 Act also establishes statutory authorization for the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) as a federal entity able to recommend a national research agenda, coordinate research, and provide educational activities for researchers.

Recognizing that the high cost of drug development would discourage the development and commercialization of drugs to treat rare diseases, called orphan drugs, prior to the Rare Diseases Act of 2002, Congress passed the Orphan Drug Act of 1983. Orphan drug designation is granted to drugs and biologics intended for the safe and effective treatment, diagnosis, or prevention of rare diseases or disorders. The 1983 Act strengthened financial incentives for pharmaceutical companies by providing exclusive marketing rights for seven years, tax credits, grants, and access to special FDA technical advice.

Describing The Pipeline

The new report, developed by the Analysis Group and supported by PhRMA, finds that over 5,400 medicines are in the pharmaceutical pipeline globally (defined as products in Phase I, II, III, or having been filed with or approved by the FDA, but not yet on the market in the U.S.). Of the medicines in various phases of clinical development, 70% are potential first-in-class medicines, meaning those drugs are described by a unique pharmacological class distinct from those of any drug currently on the market. There are particularly high percentages of potential first-in-class medicines in neurology (84%), cardiovascular (81%), cancer (80%), psychiatry (79%), immunology (72%) and diabetes (71%) [2].

Although there are projects in development across the therapeutic spectrum, certain therapeutic areas showed the greatest overall number of development projects, including cancer (3,070 drugs), infections (750 drugs), neurology (610 drugs), cardiovascular (450 drugs), immunology (298 drugs), diabetes (281 drugs), psychiatry (240 drugs) and HIV/AIDS (185 drugs). 

Over the past decade, 304 new prescription medicines have been approved for use by the FDA’s Center for Drug Evaluation and Research (CDER) (see figure below). 

New drug approvals since 2000

There has been concern among industry analysts and others about the level of drug development productivity over time (i.e. innovation produced per dollar spent on R&D), as well as the flat to declining number of new drug approvals over the last decade. However, new data from the FDA’s CDER published subsequent to the PhRMA report minimizes those concerns as 2012 was a banner year for new drugs.

For the rare disease community, the PhRMA report is also encouraging. There are nearly 7,000 rare diseases and fewer than 500 approved treatments [3]. The PhRMA report highlights the fact that there are nearly three times as many drugs in development for rare diseases today than there were ten years ago (see figure below). In the most recent five-year period, orphan drug approvals accounted for almost one-third of approvals, with the average population size for orphan designations ~39,000 patients.

Projects with orphan drug designation 1984

Approaches focusing on personalized medicine — the tailoring of medical treatment to the individual characteristics of each patient — are also receiving a growing emphasis in drug development. A separate analysis focusing only on Phase III and Phase IV U.S. clinical trials involving the use of molecular biomarkers identified 155 personalized medicine trials that were started on or before January 2009. In support of this developing area, the FDA now lists 104 medicines with approved pharmacogenomic biomarkers in their drug labels [4].

The PhRMA report highlights a number of novel scientific approaches currently being pursued to address various diseases and conditions. Broad classes of innovative scientific “platforms” include cell therapy, antisense RNA interference therapy, monoclonal antibodies joined to cytotoxic agents to target tumor cells, and gene therapy.


  1. Innovation in the Biopharmaceutical Pipeline: A Multidimensional View. Analysis Group. 2013 Jan.
  2. The Biopharmaceutical Pipeline: Evolving Science, Hope for Patients.  Pharmaceutical Research and Manufacturers of America. 2013 Jan.
  3. NORD’s 2012 Report to the Communities. National Organization for Rare Disorders. 2012.
  4. Table of Pharmacogenomic Biomarkers in Drug Labels. U.S. Food and Drug Administration. Accessed 2012 Feb 20.
About the Author

Walter Jessen is a senior writer for Highlight HEALTH Media.