De Blieck United States JNCL Patients Patients enroll in the URBC contact and natural Between 2001-2012, 198 families have • • (2013) history registry enrolled in the registry [35] children from 99 families have enrolled in •120 a study to validate the Unified Batten Disease Rating Scale (UBDRS) projects that families have been enrolled •Other in include studies of socio-demographic status, visual skills, attitudes and knowledge about –aid genetic testing, and in families’ interests participating in Phase II safety and tolerability clinical trials Through the registry, patients were also • recruited to participate in the phase II URBC’s trial and parents were able to provide input regarding trial design (e.g., the feasibility of travel) Richesson United States Rare diseases in general Patients Patients provide contact information, Over 4,000 individuals representing 40+ • • (2009) diagnosis, and demographic information different rare diseases from 61 different [36] to the RDCRN countries were enrolled in the Contact Registry receive news of open or planned clinical as of 2007 •Patients studies on behalf of the RDCRN (e.g., title of open The number of enrolees varies across the • protocol; eligibility criteria; protocol description; consortia due in part to the promotion of the open sites; contact info) Contact Registry by certain patient If interested in participating, patients must organizations • contact study personnel study participation rate in 5 •The overall may also use a toll-free number to enroll RDCRN research consortia was 12% (6-27%), •Patients or update their information with the rate increasing to 16% (8-42%) and Standard post may be used to receive 21% (12-43%) when restricting study eligibility • information to within 200 miles and 100 miles of a study site, respectively Seminara United States UCDs Patients Patients self-registered in the RDCRN Contact Not specified • (2010) Registry receive information about UCDC studies [24] via email Establishment of a registry or biorepository Workman United States Rare diseases in general Patients and Patients, usually through organizations that Not specified • (2013) patient receive advice from a scientific board of advisors, [41] organizations establish patient-powered registries (PPRs) Patients, families, or patient organizations • manage or control data collection, the research
De Blieck (2013) [35] United States JNCL Patients • Patients enroll in the URBC contact and natural history registry • Between 2001-2012, 198 families have enrolled in the registry •120 children from 99 families have enrolled in a study to validate the Unified Batten Disease Rating Scale (UBDRS) •Other projects that families have been enrolled in include studies of socio-demographic status, visual –aid skills, attitudes and knowledge about genetic testing, and families’ interests in participating in Phase II safety and tolerability clinical trials • Through the registry, patients were also recruited to participate in the URBC’s phase II trial and parents were able to provide input regarding trial design (e.g., the feasibility of travel) Richesson (2009) [36] United States Rare diseases in general Patients • Patients provide contact information, diagnosis, and demographic information to the RDCRN •Patients receive news of open or planned clinical studies on behalf of the RDCRN (e.g., title of open protocol; eligibility criteria; protocol description; open sites; contact info) • If interested in participating, patients must contact study personnel •Patients may also use a toll-free number to enroll or update their information • Standard post may be used to receive information • Over 4,000 individuals representing 40+ different rare diseases from 61 different countries were enrolled in the Contact Registry as of 2007 • The number of enrolees varies across the consortia due in part to the promotion of the Contact Registry by certain patient organizations •The overall study participation rate in 5 RDCRN research consortia was 12% (6-27%), with the rate increasing to 16% (8-42%) and 21% (12-43%) when restricting study eligibility to within 200 miles and 100 miles of a study site, respectively Seminara (2010) [24] United States UCDs Patients • Patients self-registered in the RDCRN Contact Registry receive information about UCDC studies via email Not specified Establishment of a registry or biorepository Workman (2013) [41] United States Rare diseases in general Patients and patient organizations • Patients, usually through organizations that receive advice from a scientific board of advisors, establish patient-powered registries (PPRs) • Patients, families, or patient organizations manage or control data collection, the research Not specified