Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "TRANSLATING" the translational

PLoS Currents

Volumn , Issue JAN, 2013, Pages 1-17

  Mccormack, Pauline ^a   Woods, Simon ^a   Aartsma Rus, Annemieke ^b   Hagger, Lynn ^c   Herczegfalvi, Agnes ^d   Heslop, Emma ^a   Irwin, Joseph ^e   Kirschner, Janbernd ^f   Moeschen, Patrick ^g   Muntoni, Francesco ^h   Ouillade, Marie Christine ⁱ   Rahbek, Jes ^j   Rehmann Sutter, Christoph ^k   Rouault, Francoise ⁱ   Sejersen, Thomas ^l   Vroom, Elizabeth ^m   Straub, Volker ^a   Bushby, Kate ^a   Ferlini, Alessandra ⁿ  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

^d SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^e Lakeside Regulatory Consulting Services Ltd   (United Kingdom)

^f UNIVERSITY OF FREIBURG   (Germany)

^g Muscular Dystrophy Campaign   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ Association Française Contre Les Myopathies   (France)

^j Ârhus Denmark and European NeuroMuscular Center   (Netherlands)

^k UNIVERSITY OF LÜBECK   (Germany)

^l KAROLINSKA INSTITUTE   (Sweden)

^m United Parent Project Muscular Dystrophy (UPPMD)   (Netherlands)

ⁿ UNIVERSITY OF FERRARA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOETHICS; CLINICAL TRIAL (TOPIC); DECISION MAKING; DRUG INDUSTRY; DUCHENNE MUSCULAR DYSTROPHY; ETHICS; FUNDING; GENE MUTATION; GENETIC DISORDER; HUMAN; INTERPERSONAL COMMUNICATION; LAW; MOLECULAR GENETICS; MULTICENTER STUDY (TOPIC); NEUROMUSCULAR DISEASE; ORGANIZATION; OUTCOME ASSESSMENT; PATIENT PARTICIPATION; PERSONALIZED MEDICINE; PUBLISHING; SOCIAL ASPECT; SPINAL MUSCULAR ATROPHY;

EID: 84874122651     PISSN: None     EISSN: 21573999     Source Type: Journal    
DOI: 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec     Document Type: Article

References (46)

1. Council of Europe (1999). Regulation on orphan medicinal products. Brussels, EC. (www.coe.int)
2. European Commission (2010). European action in the field of Rare Diseases. H. a. C. D. General. Luxembourg, EC. (http://ec.europa.eu/health/rare_diseases/docs/eucerd201l_report_state_of_art_raredis_activities_2.pdf)
3. van Engelen BG, van Veenendaal H, van Doom PA, Faber CG, van der Hoeven JH, Janssen NG, Notermans NC, van Schaik IN, Visser LH, Verschuuren JJ. The Dutch neuromuscular database CRAMP (Computer Registry of All Myopathies and Polyneuropathies): development and preliminary data. Neuromuscul Disord. 2007 Jan;17(l):33-7. PubMed PMID:17141501.
4. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009 Nov;132(Pt ll):3175-86. PubMed PMID:19767415.
5. van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dünnen JT, Koop K, van der Kooi AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJ. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007 Dec 27;357(26):2677-86. PubMed PMID:18160687.
6. Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol. 2009 Oct;8(10):918-28. PubMed PMID:19713152.
7. Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis. 2010 Dec;33(6):747-50. PubMed PMID:20865334.
8. London AJ, Kimmelman J, Emborg ME. Research ethics. Beyond access vs. protection in trials of innovative therapies. Science. 2010 May 14;328(5980):829-30. PubMed PMID:20466907.
9. Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 Nov;68(5):629-38. PubMed PMID:21031578.
10. Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, Holling T, Janson AA, Platenburg GJ, Sipkens JA, Sitsen JM, Aartsma-Rus A, van Ommen GJ, Buyse G, Darin N, Verschuuren JJ, Campion GV, de Kimpe SJ, van Deutekom JC. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N EnglJ Med. 2011 Apr 21;364(16):1513-22. PubMed PMID:21428760.
11. Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet. 2011 Aug 13;378(9791):595-605. PubMed PMID:21784508.
12. Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laura M, Radice D, Calabrese D, Hughes RA, Solari A. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol. 2011 Apr;10(4):320-8. PubMed PMID:21393063.
13. Nigro V, Aurino S, Piluso G. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol. 2011 Oct;24(5):429-36. PubMed PMID:21825984.
14. Bowles DE, McPhee SW, Li C, Gray SJ, Samulski JJ, Camp AS, Li J, Wang B, Monahan PE, Rabinowitz JE, Grieger JC, Govindasamy L, Agbandje-McKenna M, Xiao X, Samulski RJ. Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol Ther. 2012 Feb;20(2):443-55. PubMed PMID:22068425.
15. Woods S, McCormack P. DISPUTING THE ETHICS OF RESEARCH: THE CHALLENGE FROM BIOETHICS AND PATIENT ACTIVISM TO THE INTERPRETATION OF THE DECLARATION OF HELSINKI IN CLINICAL TRIALS. Bioethics. 2012 Feb 2. PubMed PMID:22296646.
16. Naldini L. Ex vivo gene transfer and correction for cell-based therapies. Nat Rev Genet. 2011 May;12(5):301-15. PubMed PMID:21445084.
17. Prayle AP, Hurley MN, Smyth AR. Compliance with mandatory reporting of clinical trial results on ClinicalTrials.gov: cross sectional study. BMJ. 2012 Jan 3;344:d7373. PubMed PMID:22214756.
18. Ross JS, Tse T, Zarin DA, Xu H, Zhou L, Krumholz HM. Publication of NIH funded trials registered in ClinicalTrials.gov: cross sectional analysis. BMJ. 2012 Jan 3;344:d7292. PubMed PMID:22214755.
19. Hurley MN, Prayle AP, Smyth AR. Delayed publication of clinical trials in cystic fibrosis. J Cyst Fibrös. 2012 Jan;ll(l):14-7. PubMed PMID:21889426.
20. Schott G, Pachl H, Limbach U, Gundert-Remy U, Lieb K, Ludwig WD. The financing of drug trials by pharmaceutical companies and its consequences: part 2: a qualitative, systematic review of the literature on possible influences on authorship, access to trial data, and trial registration and publication. Dtsch Arztebl Int. 2010 Apr;107(17):295-301. PubMed PMID:20490338.
21. Henschel AD, Rothenberger LG, Boos J. Randomized clinical trials in children-ethical and methodological issues. CurrPharm Des. 2010;16(22):2407-15. PubMed PMID:20513232.
22. Koelch M, FegertJM. Ethics in child and adolescent psychiatric care: An international perspective. Int Rev Psychiatry. 2010;22(3):258-66. PubMed PMID:20528655.
23. Bushby K, Connor E. Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Investig (Lond). 2011 Sep;l(9):1217-1235.
24. Klein A, Jungbluth H, Clement E, Ullis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F. Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 Sep;68(9):1171-9. PubMed PMID:21911697.
25. Lundh A, Krogsboll LT, Gotzsche PC. Access to data in industry-sponsored trials. Lancet. 2011 Dec 10;378(9808):1995-6. PubMed PMID:22153200.
26. Coultas D. Ethical considerations in the interpretation and communication of clinical trial results. Proc Am Thorac Soc. 2007 May;4(2):194-8; discussion 198-9. PubMed PMID:17494731.
27. Regulation (EC) No 1901/2006 of the european parliament and of the council of 12 december 2006 on medical products for paediatric use amending regulation (ECC) No 1768/92, Directive 2001/20/EC, Directive 2001/83/EC and Regulation (EC) No 726/2004.
28. Aartsma-Rus A. The risks of therapeutic misconception and individual patient (n=l) trials in rare diseases such as Duchenne dystrophy. Neuromuscul Disord. 2011 Jan;21(l):13-5. PubMed PMID:21051233.
29. Woods S, Hagger LE, McCormack P. Therapeutic Misconception: Hope, Trust and Misconception in Paediatric Research. Health Care Anal. 2012 Feb 18. PubMed PMID:22350619.
30. Muntoni F, Wells D. Genetic treatments in muscular dystrophies. Curr Opin Neurol. 2007 Oct;20(5):590-4. PubMed PMID:17885450.
31. Arechavala-Gomeza V, Anthony K, Morgan J, Muntoni F. Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges. Curr Gene Ther. 2012 Jun;12(3):152-60. PubMed PMID:22533380.
32. Moliner AM. Creating a European Union framework for actions in the field of rare diseases. Adv Exp Med Biol. 2010;686:457-73. PubMed PMID:20824460.
33. Rubinstein YR, Groft SC, Chandras SH, Kaneshiro J, Karp B, Lockhart NC, Marshall PA, Moxley RT 3rd, Pollen GB, Miller VR, Schwartz J. Informed consent process for patient participation in rare disease registries linked to biorepositories. Contemp Clin Trials. 2012 Jan;33(l):5-ll. PubMed PMID:22036955.
34. Horton R. Trial registers: protecting patients, advancing trust. Lancet. 2006 May 20;367(9523):1633-5. PubMed PMID:16714167.
35. Davidson AJ, O'Brien M. Ethics and medical research in children. Paediatr Anaesth. 2009 Oct;19(10):994-1004. PubMed PMID:19709376.
36. Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller CR. Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord. 2010 Jun;20(6):422-7. PubMed PMID:20466545.
37. Ross LF. Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet A. 2006 Apr 15;140(8):914-22. PubMed PMID:16528755.
38. Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012 Mar;71(3):304-13. PubMed PMID:22451200.
39. Ferlini A. Neuromuscular disease: Muscular dystrophy-something new on God's green earth? Nat Rev Neurol. 2012 Mar 27;8(5):247-9. PubMed PMID:22450509.
40. Merlini L, Gennari M, Malaspina E, Cecconi I, Armaroli A, Gnudi S, Talim B, Ferlini A, Cicognani A, Franzoni E. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve. 2012Jun;45(6):796-802. PubMed PMID:22581531.
41. Beauchamp and Childress. 2009. Principles of Biomedical Ethics. Sixth edition. Oxford University Press, New York NY
42. Council for International Organizations of Medical Sciences (CIOMS). 2002. International Ethical Guidelines for Biomedical Research Involving Human Subjects. 3rd edn. Geneva: CIOMS: 63.
43. World Medical Association. 1964. World Medical Association Declaration of Helsinki. Ethical Principles for Medical Research Involving Human Subjects. Ferney-Voltaire, France: World Medical Association.
44. UK Medical Research Council, Medical Research Involving Children, 2004 http://www.mrc.ac.uk/Utilities/Documentrecord/index.htm?d=MRC002430
45. Hagger, L. (2009) The Child as Vulnerable Patient: Protection and Empowerment, Abingdon: Ashgate Cave E. Seen but not heard? Children in clinical trials. Med Law Rev. 2010 Winter;18(l):l-27 PubMed PMID:20129995.
46. Alderson P, Morrow V (2011) The ethics of research with children and young people: a practical handbook. London: Sage Publications.