The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: Design and methodology

Current Medical Research and Opinion

Volumn 29, Issue 1, 2013, Pages 77-84

  Planté Bordeneuve, Violaine ^a   Suhr, Ole B ^b   Maurer, Mathew S ^c   White, Barbara ^d   Grogan, Donna R ^d   Coelho, Teresa ^e  

^a HENRI MONDOR HOSPITAL   (France)

^b UMEÅ UNIVERSITY   (Sweden)

^c New York Presbyterian Morgan Stanley Children's Hospital   (United States)

^d FoldRx Pharmaceuticals Inc   (United States)

^e HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

Amyloidosis; Cardiomyopathy; Familial amyloid polyneuropathy; Methodology; Neuropathy; Registry; Transthyretin

Indexed keywords

PREALBUMIN;

AMYLOIDOSIS; ARTICLE; CARDIOVASCULAR FUNCTION; DISEASE COURSE; DISEASE REGISTRY; FAMILY HISTORY; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HUMAN; LIVER TRANSPLANTATION; LONGITUDINAL STUDY; MEDICAL HISTORY; NEUROLOGIC EXAMINATION; OBSERVATIONAL STUDY; OVERALL SURVIVAL; PATIENT CARE; PHENOTYPE; QUALITY OF LIFE; REGISTER; TRANSTHYRETIN AMYLOIDOSIS; WILD TYPE;

AMYLOID NEUROPATHIES, FAMILIAL; DATA COLLECTION; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; REGISTRIES;

EID: 84871378837     PISSN: 03007995     EISSN: 14734877     Source Type: Journal    
DOI: 10.1185/03007995.2012.754349     Document Type: Article

References (38)

1. Byrne BJ, Kishnani PS, Case LE, et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab 2011;103:1-11
2. Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92
3. Forrest CB, Bartek RJ, Rubinstein Y, et al. The case for a global rare-diseases registry. Lancet 2011;377:1057-9
4. Gliklich M, Leavy M. Patient registries and rare diseases. Applied Clinical Trials 2011;20:1-5
5. Luisetti M, Campo I, Scabini R, et al. The problems of clinical trials and registries in rare diseases. Respir Med 2010;104(Suppl 1):S42-4
6. Mehta A, Beck M, Linhart A, et al. Concluding remarks. In: Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis, 2006: Chapter 44
7. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42
8. Pastores GM, Arn P, Beck M, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab 2007;91:37-47
9. Ranke MB, Dowie J. KIGS and KIMS as tools for evidence-based medicine. Horm Res 1999;51(Suppl 1):83-6
10. Richesson R, Vehik K. Patient registries: utility, validity and inference. Adv Exp Med Biol 2010;686:87-104
11. Hund E, Linke RP, Willig F, et al. Transthyretin-Associated neuropathic amy-loidosis. Pathogenesis and treatment. Neurology 2001;56:431-5
12. Connors LH, Lim A, Prokaeva T, et al. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003;10:160-84
13. Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011;10:1086-97
14. Westermark P, Sletten K, Johansson B, et al. Fibril in senile systemic amy-loidosis is derived from normal transthyretin. Proc Natl Acad Sci USA 1990;87:2843-5
15. Falk RH. Cardiac amyloidosis: a treatable disease, often overlooked. Circulation 2011;124:1079-85
16. Kawaji T, Ando Y, Ando E, et al. Transthyretin-related vitreous amyloidosis in different endemic areas. Amyloid 2010;17:105-8
17. Lobato L, Rocha A. Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol 2012;7:1337-46
18. Rapezzi C, Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation 2009;120:1203-12
19. Benson MD, Tomoyuki T. Transthyretin amyloidosis. Amyloid 1996;3:44-56
20. Jacobson DR, Pastore RD, Yaghoubian R, et al. Variant-sequence transthyr-etin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 1997;336:466-73
21. Hornsten R, Pennlert J, Wiklund U, et al. Heart complications in familial transthyretin amyloidosis: impact of age and gender. Amyloid 2010;17:63-8
22. Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol 2010;7:398-408
23. Ando Y, Ohtsu Y, Terazaki H, et al. Japanese monozygotic twins with familial amyloidotic polyneuropathy (FAP) (ATTR Val30Met). Amyloid 2000;7:133-6
24. Holmgren G, Wikstrom L, Lundgren HE, et al. Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins. J Intern Med 2004;256:453-6
25. Saporta MA, Plante-Bordeneuve V, Misrahi M, et al. Discordant expression of familial amyloid polyneuropathy in monozygotic Brazilian twins. Amyloid 2009;16:38-41
26. Sekijima Y, Kelly JW, Ikeda S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des 2008;14:3219-30
27. Okamoto S, Wixner J, Obayashi K, et al. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients' survival. Liver Transpl 2009;15:1229-35
28. Herlenius G, Wilczek HE, Larsson M, et al. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation 2004;77:64-71
29. THAOS Transthyretin Amyloidosis Outcomes Survey. Available at: http://www.thaos.net [Last accessed 21 September 2012]
30. Coutinho CA, Conceicao I, Almeida A, et al. Early detection of sympathetic myocardial denervation in patients with familial amyloid polyneuropathy type I. Rev Port Cardiol 2004;23:201-11
31. Planté-Bordeneuve V, Carayol J, Ferreira A, et al. Genetic study of transthyr-etin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003;40:e120
32. Soares ML, Coelho T, Sousa A, et al. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur J Hum Genet 2004;12:225-37
33. Suhr OB, Ericzon BG. Selection of hereditary transthyretin amyloid patients for liver transplantation: the Swedish experience. Amyloid 2012;19(Suppl 1):78-80
34. Vinik EJ, Hayes RP, Oglesby A, et al. The development and validation of the Norfolk QOL-DN, a new measure of patients' perception of the effects of diabetes and diabetic neuropathy. Diabetes Technol Ther 2005;7:497-508
35. Rabin R, de Charro F. EQ-5D: a measure of health status from the EuroQol Group. Ann Med 2001;33:337-43
36. Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43:347-52
37. The Familial Amyloidotic Polyneuropathy World Transplant Registry. Available at: http://www.fapwtr.org/ram1.htm [Last accessed 14 June 2012]
38. Suhr OB, Herlenius G, Friman S, et al. Liver transplantation for hereditary transthyretin amyloidosis. Liver Transpl 2000;6:263-76