Evaluation of participant recruitment methods to a rare disease online registry

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1686-1694

  Johnson, Kimberly J ^a,b,c   Mueller, Nancy L ^a   Williams, Katherine ^a   Gutmann, David H ^b  

^a WASHINGTON UNIVERSITY IN ST LOUIS   (United States)

^b WASHINGTON UNIVERSITY   (United States)

^c Washington University in St Louis School of Medicine   (United States)

Author keywords

Genetic syndrome; Internet; Neurofibromatosis type 1; NF1; Online; Rare disease; Registry

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE REGISTRY; FEMALE; GENDER; HUMAN; INFORMATION DISSEMINATION; MAJOR CLINICAL STUDY; MALE; NEUROFIBROMATOSIS; ONLINE SYSTEM; PARTICIPATORY RESEARCH; PATIENT REFERRAL; PRIORITY JOURNAL; PUERTO RICO; RACE; SOCIAL MEDIA; UNITED STATES; ADOLESCENT; CHILD; GEOGRAPHY; INFANT; INTERNET; MEDICAL RESEARCH; NEUROFIBROMATOSIS TYPE 1; NEWBORN; PATIENT SELECTION; PRESCHOOL CHILD; PROCEDURES; RARE DISEASE; REGISTER; YOUNG ADULT;

ADOLESCENT; BIOMEDICAL RESEARCH; CHILD; CHILD, PRESCHOOL; FEMALE; GEOGRAPHY; HUMANS; INFANT; INFANT, NEWBORN; INTERNET; MALE; NEUROFIBROMATOSIS 1; PATIENT SELECTION; RARE DISEASES; REGISTRIES; YOUNG ADULT;

EID: 84902550673     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36530     Document Type: Article

References (38)

1. Battistella E, Kalyan S, Prior JC. 2010. Evaluation of methods and costs associated with recruiting healthy women volunteers to a study of ovulation. J Womens Health (Larchmt) 19:1519-1524.
2. Close S, Smaldone A, Fennoy I, Reame N, Grey M. 2013. Using information technology and social networking for recruitment of research participants: Experience from an exploratory study of pediatric klinefelter syndrome. J Med Internet Res 15:e48.
3. Creange A, Zeller J, Rostaing-Rigattieri S, Brugieres P, Degos JD, Revuz J, Wolkenstein P. 1999. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 122:473-481.
4. Crowe FW. 1956. A clinical, pathological, and genetic study of multiple neurofibromatosis. Springfield, IL: Thomas. p 181.
5. Facebook. Facebook reports fourth quarter and full year 2012 results. Facebook. http://investor.fb.com/releasedetail.cfm?ReleaseID=736911 (Accessed April 18, 2013).
6. Facebook. 2013. Like. Facebook. https://www.facebook.com/help/www/452446998120360 (Accessed October 8 2013).
7. Fenner Y, Garland SM, Moore EE, Jayasinghe Y, Fletcher A, Tabrizi SN, Gunasekaran B, Wark JD. 2012. Web-based recruiting for health research using a social networking site: An exploratory study. J Med Internet Res 14:e20.
8. Gilboa Y, Rosenblum S, Fattal-Valevski A, Josman N. 2010. Application of the international classification of functioning, disability and health in children with neurofibromatosis type 1: A review. Dev Med Child Neurol 52:612-619.
9. Google. 2014. About goals. https://support.google.com/analytics/answer/1012040?hl=en (Accessed 1/6 2014).
10. Gutmann DH, Rasmussen SA, Wolkenstein P, MacCollin MM, Guha A, Inskip PD, North KN, Poyhonen M, Birch PH, Friedman JM. 2002. Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology 59:759-761.
11. Health-Eu. Rare diseases. European Commission Health-Eu. http://ec.europa.eu/health-eu/health_problems/rare_diseases/index_en.htm (Accessed May 3, 2013).
12. Hsieh HY, Fung HC, Wang CJ, Chin SC, Wu T. 2011. Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects. Seizure 20:606-611.
13. Jett K, Friedman JM. 2010. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12:1-11.
14. Johnson MR, Ferner RE, Bobrow M, Hughes RA. 2000. Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry 68:643-646.
15. Johnson KJ, Hussain I, Williams K, Santens R, Mueller NL, Gutmann DH. 2012. Development of an international Internet-based neurofibromatosis type 1 patient registry. Contemp Clin Trials 34:305-311.
16. Jones SC, Magee CA. 2011. Exposure to alcohol advertising and alcohol consumption among Australian adolescents. Alcohol Alcohol 46:630-637.
17. Le Retraite L, Eisinger F, Loundou A, Rinaldi Y, Seitz JF, Auquier P. 2010. Sociogeographical factors associated with participation in colorectal cancer screening. Gastroenterol Clin Biol 34:534-540.
18. Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS. 1991. cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product. Genomics 11:931-940.
19. Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D. 2011. Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006). Orphanet J Rare Dis 6:11.
20. Mastrangelo M, Mariani R, Spalice A, Ruggieri M, Iannetti P. 2009. Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria. Acta Paediatr 98:760-762.
21. Myotonic Dystrophy Family Registry. http://www.myotonic.org/patient-registry (Accessed November 11 2013).
22. North American Research Committee on Multiple Sclerosis. http://narcoms.org/about (Accessed November 11 2013).
23. Op de Coul EL, Gotz HM, van Bergen JE, Fennema JS, Hoebe CJ, Koekenbier RH, Pars LL, van Ravesteijn SM, van der Sande MA, van den Broek IV. 2012. Who participates in the Dutch Chlamydia screening? A study on demographic and behavioral correlates of participation and positivity. Sex Transm Dis 39:97-103.
24. Patients Like Me. http://www.patientslikeme.com/about (Accessed November 11 2013).
25. Perini P, Gallo P. 2001. The range of multiple sclerosis associated with neurofibromatosis type 1. J Neurol Neurosurg Psychiatry 71:679-681.
26. PewInternet.org. 2011. Social networking sites and our lives. Pew Research Center's Internet & American Life Project. http://pewinternet.org/Reports/2011/Technology-and-social-networks.aspx (Accessed April 16, 2013).
27. Pipatpajong H, Phanthumchinda K. 2011. Neurofibromatosis type I associated multiple sclerosis. J Med Assoc Thai 94:505-510.
28. Rarediseases.org. Rare Disease Information. National Organization for Rare Disorders. http://www.rarediseases.org/rare-disease-information (Accessed May 3, 2013).
29. Rasmussen SA, Yang Q, Friedman JM. 2001. Mortality in neurofibromatosis 1: An analysis using U.S. death certificates. Am J Hum Genet 68:1110-1118.
30. Reaves AC, Bianchi DW. 2013. The role of social networking sites in medical genetics research. Am J Med Genet Part A. 161:951-957.
31. Roberts JS, Barber M, Brown TM, Cupples LA, Farrer LA, LaRusse SA, Post SG, Quaid KA, Ravdin LD, Relkin NR, Sadovnick AD, Whitehouse PJ, Woodard JL, Green RC. 2004. Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial. Genet Med 6:197-203.
32. Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J. 2010. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare disease-HUB (RD-HUB). Contemp Clin Trials 31:394-404.
33. Seminog OO, Goldacre MJ. 2013. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: Population-based record-linkage study. Br J Cancer 108:193-198.
34. Spinicci G, Cherchi MV, Murru R, Conti M, Marrosu MG. 2010. A case of neurofibromatosis and multiple sclerosis. Neurol Sci 31:631-634.
35. Tweet MS, Gulati R, Aase LA, Hayes SN. 2011. Spontaneous coronary artery dissection: A disease-specific, social networking community-initiated study. Mayo Clin Proc 86:845-850.
36. U.S. Census. Table 1. Annual estimates of the population for the United States, Regions, States, and Puerto Rico: April 1, 2010 to July 1, 2012 (NST-EST2012-01). Release Date: December 2012. U.S. Census. http://www.census.gov/popest/data/national/totals/2012/ (Accessed May 10, 2013).
37. Wilding A, Ingham SL, Lalloo F, Clancy T, Huson SM, Moran A, Evans DG. 2012. Life expectancy in hereditary cancer predisposing diseases: An observational study. J Med Genet 49:264-269.
38. WIlliams Syndrome Patient and Clinical Research Registry. https://registry.williams-syndrome.org/index.htm (Accessed November 11 2013).