information on the experiences of patients and their parents to write a white paper on the disease De Ireland Haemophilia Patient The Irish Haemophilia Society collected patient Health utility values based on the EQ-5D • • Moerloose organizations data to assess the effect of a serious bleed on survey were calculated for 3 patients (2015) health-related quality of life. This data can supplement key clinical data to • [146] inform HTA bodies and payers of the true impact of haemophilia on the day-to-day lives on patients Genetic United Kingdom Rare diseases in general Patient Genetic Alliance UK has developed a project to Not specified • Alliance UK organizations explore the perspectives of patients and families (2014) affected by genetic conditions regarding [97] willingness to accept risk or adverse outcomes with a new treatment Ferguson United States Gastrointestinal stromal Patient The Life Raft Group, a patient group started by The study collected data on quality of clinical • • (2002) tumor (GIST) organization the husband of a patient, published a study care available at clinical trial centres; attempted [19] evaluating effectiveness for GIST to evaluate the sources of information that Gleevec’s patients participants relied on; developed a methodology for participants to serve as their own control group; and introduced a new scale to rate side effect severity from the patients point of view The leader of LifeRaftGroup.org states that • patient-initiated research helps reduce the lag time that professional researchers experience, helping to get important information to patients faster Ferguson United States PXE Patient PXE International was part of the research team The gene was identified and patented by the • • (2002) organizations working towards identifying the gene responsible research team [19] for PXE Seminara United States UCDs Patient Within the UCDC of the RDCRN, the National Not specified • (2010) organizations Urea Cycle Disorders Foundation has developed [24] and distributed surveys to determine attitudes and barriers to study participation United States Von Hippel-Lindau disease Patient The Von-Hippel-Lindau Alliance (VHLA) Not specified • (VHL) organizations developed a VHL Research Council Alliance (VHLA) (2014) [40] Patient Not specified Rare diseases in general Patient Patient organizations gather data or other Not specified • Partner organizations information
information on the experiences of patients and their parents to write a white paper on the disease De Moerloose (2015) [146] Ireland Haemophilia Patient organizations • The Irish Haemophilia Society collected patient data to assess the effect of a serious bleed on health-related quality of life. • Health utility values based on the EQ-5D survey were calculated for 3 patients • This data can supplement key clinical data to inform HTA bodies and payers of the true impact of haemophilia on the day-to-day lives on patients Genetic Alliance UK (2014) [97] United Kingdom Rare diseases in general Patient organizations • Genetic Alliance UK has developed a project to explore the perspectives of patients and families affected by genetic conditions regarding willingness to accept risk or adverse outcomes with a new treatment Not specified Ferguson (2002) [19] United States Gastrointestinal stromal tumor (GIST) Patient organization • The Life Raft Group, a patient group started by the husband of a patient, published a study evaluating Gleevec’s effectiveness for GIST patients • The study collected data on quality of clinical care available at clinical trial centres; attempted to evaluate the sources of information that participants relied on; developed a methodology for participants to serve as their own control group; and introduced a new scale to rate side effect severity from the patients point of view • The leader of LifeRaftGroup.org states that patient-initiated research helps reduce the lag time that professional researchers experience, helping to get important information to patients faster Ferguson (2002) [19] United States PXE Patient organizations • PXE International was part of the research team working towards identifying the gene responsible for PXE • The gene was identified and patented by the research team Seminara (2010) [24] United States UCDs Patient organizations • Within the UCDC of the RDCRN, the National Urea Cycle Disorders Foundation has developed and distributed surveys to determine attitudes and barriers to study participation Not specified Alliance (VHLA) (2014) [40] United States Von Hippel-Lindau disease (VHL) Patient organizations • The Von-Hippel-Lindau Alliance (VHLA) developed a VHL Research Council Not specified Patient Partner Not specified Rare diseases in general Patient organizations • Patient organizations gather data or other information Not specified
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