Abstract
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.
References
Akers A, Ball KL, Clancy M et al (2013) The brain vascular malformation consortium. Brain vascular malformation consortium: overview, progress, and future directions. J Rare Disord 1(1):5
Appropriations Language Special Emphasis Panel Report (2002) http://rarediseases.info.nih.gov/asp/html/reports/fy1999/SEP.html
Clowse ME, Richeson RL, Pieper C, Merkel PA (2013) Pregnancy outcomes among patients with vasculitis. Arthritis Care Res 65(8):1370–1374. PMID: 23401494
Chronic Graft Versus Host Disease Consortium (2011) Rationale and design of the chronic GVHD cohort study: improving outcomes assessment in chronic GVHD. Biol Blood Marrow Transplant 17(8):1114–1120
Gadegbeku CA, Gipson DS, Holzman LB et al (2013) Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int 83(4):749–756
Genetic and Rare Diseases Information Center (GARD). https://ncats.nih.gov/gard
Global Rare Diseases Registry Data Repository. https://ncats.nih.gov/grdr
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA (2009) Rare Diseases Clinical Research Network. RDCRN Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab 96(1):20–26. doi: https://doi.org/10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13. Website: Rare Diseases Clinical Research Network (RDCRN) - http://www.rarediseasesnetwork.org/
Langendonk JG, Balwani M, Anderson KE, Bonkovsky HL, Anstey AV, Montgomery Bissell D, Bloomer J, Edwards C, Neumann NJ et al (2015) Afamelanotide for Erythropoietic Protoporphyria. N Engl J Med 373:48–59. https://doi.org/10.1056/NEJMoa1411481
Johnson NE, Heatwole CR, Dilek N et al (2014) Quality-of-life in Charcot-Marie-tooth disease: the patient’s perspective. Neuromuscul Disord 24(11):1018–1023
Johnson NE, Sowden J, Dilek N et al (2014) Prospective study of muscle cramps in Charcot-Marie-Tooth disease. Muscle Nerve 51(4):485–488
Krischer JP, Gopal-Srivastava R, Groft SC, Eckstein DJ (2014) The rare diseases clinical research network’s organization and approach to observational research and health outcomes research. J Gen Intern Med 29(3):S739–S744. https://doi.org/10.1007/s11606-014-2894-x
McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM et al (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 364(17):1595–1606. https://www.rarediseasesnetwork.org/spotlight/fall2016/MILES/
NCATS Streamlined, Multisite, Accelerated Resources for Trials (SMART IRB) https://ncats.nih.gov/expertise/clinical/smartirb
Orphan Drug Act, Public Law (1983) 97–414, January 4
Rare Diseases Act of 2002 (Public Law 107–280) November 6
Gopal-Srivastava R, Groft SC (2014) Rare diseases challenges and opportunities. Orphan diseases in the age of health 2.0, Communications in medical and care compunetics. Springer, Berlin/Heidelberg, pp 283–290
Richesson RL, Lee HS, Cuthbertson D, Lloyd J et al (2009) An automated communications system in a contact registry for persons with rare diseases: scalable tools for identifying and recruiting clinical research participants. Contemp Clin Trials 30:55–62
Richesson RL, Sutphen R, Shereff D, Krischer JP (2012) The rare diseases clinical research network contact registry update: features and functionality. Contemp Clin Trials 33:647–656
Shapiro AJ, Zariwala MA, Ferkol T et al (2016) Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol 51(2):115–132
Groft SC, Gopal-Srivastava R (2013) A model for collaborative clinical research in rare diseases: experience from the rare disease clinical research network program. Clin Investig 3(11):1–7
Urea Cycle Disorders Consortium. https://www.rarediseasesnetwork.org/cms/UCDC; https://www.rarediseasesnetwork.org/spotlight/summer2013/ravicti/index.htm; http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer International Publishing AG
About this chapter
Cite this chapter
Gopal-Srivastava, R., Kaufmann, P. (2017). Facilitating Clinical Studies in Rare Diseases. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_6
Download citation
DOI: https://doi.org/10.1007/978-3-319-67144-4_6
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-67142-0
Online ISBN: 978-3-319-67144-4
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)