Facilitating Clinical Studies in Rare Diseases

  • Rashmi Gopal-SrivastavaEmail author
  • Petra Kaufmann
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1031)


In recent years, there have been many scientific advances and new collaborations for rare diseases research and, ultimately, the health of patients living with rare diseases. However, for too many rare diseases, there still is no effective treatment, and our understanding of the incidence, prevalence, and underlying etiology is incomplete. To facilitate the studies needed to answer the many open questions there is a great need for the active involvement of all stakeholders, most importantly of patient groups. Also, the creation of streamlined infrastructure for performing multi-site clinical studies is critical, as is the engagement of multi-disciplinary teams with shared focus on a group of diseases. Another essential component of such efforts is to collect standardized data so that downstream meta-analyses and data sharing can be facilitated. To ensure high-quality protocols and datasets, a central data management and coordinating center is important. Since there are more than 6000 rare diseases, instead of focusing on single rare disease, it is more impactful to create platforms and methods that can support a group of rare diseases.


Rare diseases stakeholders Rare Diseases Clinical Research Network Program Patient advocacy groups as research partners Central Data Management and Coordinating Center Multi-Site Studies Standardized data collection Single IRB for multi-site studies 


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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Extramural Research Program, Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS)National Institutes of Health (NIH)BethesdaUSA
  2. 2.National Center for Advancing Translational SciencesNational Institutes of HealthBethesdaUSA

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