Informed consent template for patient participation in rare disease registries linked to biorepositories

Yaffa Reuveni Rubinstein, Barbara Karp, Nicole Lockhart, Christine Grady, Stephen C. Groft


One of the major challenges in obtaining consent from patients participating in patient registries is ensuring that participants receive all the information and background material necessary to make a fully informed decision and understand what his/her participation and signature mean. One challenge is how to include all of the regulatory elements in a short consent document that is easily understood. In addition to a well-written consent form, much thought and attention need to be given to the consent process itself. The patient registry process will be helped by having a common template for an informed consent document and common consent processes adopted by the rare disease registries will be part of the GRDR.

Based recommendation from the subject matter experts that participated in a workshop organized by the Office of Rare Disease Research at the National Center for Advancing Translational Sciences, NIH, a template for informed consent for patient participation in patient registries was developed. This template addresses key aspects and regulatory issues related to participating in a patient registry and can be used for any registry and modified according to the specific needs of the individual registry.


informed consent, patient registries, rare diseases, common data elements, biospecimens, biobank

Full Text:



Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, et al. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemporary Clinical Trials. 2010;31(5):394-404

Forrest CB, Bartek RJ, Rubinstein Y, Groft SC. The case for a global rare-diseases registry.The Lancet.2011;377(9771):1057-9.

Johnson SB, Whitney G, McAuliffe M, Wang H, McCreedy E, Rozenblit L, et al. Using global unique identifiers to link autism collections. Journal of the American Medical Informatics Association. 2010;17(6):689-95.

Rubinstein YR, Groft SC, Chandros SH, Kaneshiro J, Karp B, Lockhart NC, et al. Informed consent process for patient participation in rare disease registries linked to biorepositories. Contemporary Clinical Trials. 2012;33(1):5-11.

Grady C, Rubinstein YR, Groft SC. Informed consent and patient registry for the rare disease community: Editorial. Contemporary Clinical Trials. 2012;33(1):3-4.