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Table 3 Some of the characteristic example of level of engagement as cited in the different articles

From: Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review

Author(s) [ref] Year of publication Characteristic example of level of engagement
Axelrad [19] 2004 “Through the 3rd International Costello Syndrome Conference, families attending the conference whose child had a clear diagnosis of Costello Syndrome and was between age 2 and 21 years were contacted for participation in this research study”
Gripp [23] 2007 “Patients clinically diagnosed with Costello syndrome were identified at the 2003 and 2005 International Costello Syndrome Meetings, through the Costello Syndrome Family Network and through physician referral”
Rauen [30] 2008 “Patients clinically diagnosed with Costello syndrome were identified at the 2003 and 2005 International Costello Syndrome Meetings, through the Costello Syndrome Family Network and through physician referral”
Rauen [31 ] 2010 “This unprecedented NIH-sponsored symposium was held in conjunction with family conferences sponsored by the Noonan Syndrome Support Group (NSSG), the Costello Syndrome Family Network (CSFN) and the International Costello Syndrome Support Group (ICSSG), CFC International”
Romano [3] 2010 “ The Noonan Syndrome Support Group convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings”
Pierpont [ 29] 2014 “To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference”
Rauen [4] 2015 “The international symposium “Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues” was attended by clinicians, basic scientists, physician-scientists, clinical and molecular geneticists, advocate leaders, genetic counselors, trainees, students and individuals with Ras/MAPK syndromes and their families”
Korf [27] 2015 “Parent and patient advocates opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances”
Niemczyk [28 ] 2015 “Nineteen children (5–17 years) and 10 adults (18–48 years) with NS were recruited through a German parent support group”
Johnson [ 26] 2015 “Participants were recruited from the International Costello Syndrome Family Forum and the CFC International Conference in Orlando, Florida in August 2013. Participants with Noonan syndrome were also recruited at the conference”
Croonen [20 ] 2016 “The study was conducted in collaboration with the Dutch Noonan syndrome patient association. Participants were recruited through an announcement for one of three planned focus group interviews on the flyer of the Noonan syndrome contact day”
“The analyzed data were presented on the NS contact day. All attendees agreed with the results without any additional remark”
Templin [34] 2016 “Parents of CFC patients were contacted through referring clinicians and the family support group”
Stevenson (33] 2016 “The symposium is unique in its approach as it is held in conjunction with multiple advocacy meetings for RASopathy family/patient support groups. A poster session of submitted scientific abstracts and invited posters for representative parent/patient support groups was held to open the symposium allowing for interaction and discussion between the lay community and the scientific community”
Garg [21] 2017 “The study was also advertised on newsletters, family information days, and on the social media of Noonan, Costello, and CFC syndrome charities
and the Noonan Syndrome Association (UK) and Costello Kids for their help with recruitment”
Grant [22] 2018 “Our laboratory was contacted by the mother of Proband 1”
Rauen [32] 2018 “Clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students, and individuals with RASopathies and their families attended”
..The patient and family advocates strongly requested the researchers and medical experts to stay interested in issues that adults live with and to continue to heed advocacy support groups”
Gross [25] 2020 “A multidisciplinary group of 38 care providers, basic scientists, and representatives from the patient advocacy group RASopathiesNet……… aimed to define the RASopathies and RASopathy‐associated genes for the purposes of ART, identify the available tools for translational research in the RASopathies, describe the longitudinal cohort study that is the cornerstone of ART, and discuss potential solutions for the various challenges that have hindered investigators from initiating therapeutic clinical trials for individuals with RASopathies to date
Outreach activities through RASopathiesNet and the syndrome‐specific family groups have indicated that individuals with a RASopathy are eager to engage in the scientific process”
Gripp [24] 2020 “This meeting brought together basic science researchers, clinicians, clinician scientists, patient advocates, and representatives from pharmaceutical companies and the National Institutes of Health. Novel RASopathy genes, variants, and animal models were discussed in the context of medication trials and drug development. Attempts to define and measure meaningful endpoints for treatment trials were discussed, as was drug availability to patients after trial completion”