204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 25, Issue 2, 2015, Pages 184-198

  Ferlini, Alessandra ^a   Flanigan, Kevin M ^b   Lochmuller, Hanns ^c   Muntoni, Francesco ^d   't Hoen, Peter A C ^e   McNally, Elizabeth ^f  

^a UNIVERSITY OF FERRARA   (Italy)

^b OHIO STATE UNIVERSITY   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF CHICAGO   (United States)

Author keywords

Biomarker; Duchenne; ENMC; Workshop

Indexed keywords

BIOLOGICAL MARKER; CALPHOBINDIN II; CREATINE KINASE; DRISAPERSEN; DYSTROPHIN; GELATINASE B; MESSENGER RNA; MICRORNA; MICRORNA 206; OSTEOPONTIN; TISSUE INHIBITOR OF METALLOPROTEINASE 1; UNCLASSIFIED DRUG; VIMENTIN;

ABLIM2 GENE; ARTICLE; CELLULAR DISTRIBUTION; DLK1 DIO3 GENE; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHIN GENE; GENE; HUMAN; LTBP4 GENE; METABOLOMICS; MMP9 GENE; NETHERLANDS; NONHUMAN; OUTCOME ASSESSMENT; PERSONALIZED MEDICINE; PHARMACOGENOMICS; PROTEIN EXPRESSION; PROTEIN INTERACTION; PROTEOMICS; SINGLE NUCLEOTIDE POLYMORPHISM; SPP1 GENE; TISSUE DISTRIBUTION; METABOLISM;

BIOMARKERS; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; NETHERLANDS;

EID: 84921277722     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.09.004     Document Type: Article

References (54)

1. Novelli G., Ciccacci C., Borgiani P., Papaluca Amati M., Abadie E. Genetic tests and genomic biomarkers: regulation, qualification and validation. Clin Cases Miner Bone Metab 2008, 5(2):149-154.
2. Muntoni F., Torelli S., Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003, 2(12):731-740. Review.
3. 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, 12:152-160. Review.
4. Mendell J.R., Rodino-Klapac L., Sahenk Z., et al. Gene therapy for muscular dystrophy: lessons learned and path forward. Neurosci Lett 2012, 527(2):90-99.
5. Mercuri E., Mayhew A., Muntoni F., et al. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord 2008, 18(11):894-903.
6. Russell C., Rahman A., Mohammed A.R. Application of genomics, proteomics and metabolomics in drug discovery, development and clinic. Ther Deliv 2013, 4(3):395-413.
7. Bai J.P., Barrett J.S., Burckart G.J., Meibohm B., Sachs H.C., Yao L. Strategic biomarkers for drug development in treating rare diseases and diseases in neonates and infants. AAPS J 2013, 15(2):447-454.
8. Scotton C., Passarelli C., Neri M., Ferlini A. Biomarkers in rare neuromuscular diseases. Exp Cell Res 2013, 325(1):44-49.
9. Buyse M., Sargent D.J., Grothey A., Matheson A., de Gramont A. Biomarkers and surrogate end points - the challenge of statistical validation. Nat Rev Clin Oncol 2010, 7(6):309-317.
10. Goodsaid F.M., Amur S., Aubrecht J., et al. Voluntary exploratory data submissions to the US FDA and the EMA: experience and impact. Nat Rev Drug Discov 2010, 9(6):435-445.
11. Hollebecque A., Massard C., Soria J.C. Implementing precision medicine initiatives in the clinic: a new paradigm in drug development. Curr Opin Oncol 2014, 26(3):340-346.
12. Aartsma-Rus A., Ferlini A., Vroom E. Biomarkers and surrogate endpoints in Duchenne: meeting report. Neuromuscul Disord 2014, 24(8):743-745.
13. Bladen C.L., Rafferty K., Straub V., et al. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat 2013, 34(11):1449-1457.
14. Sun S.C., Peng Y.S., He J.B. Changes of serum creatine kinase levels in children with Duchenne muscular dystrophy. Zhongguo Dang Dai Er Ke Za Zhi 2008, 10(1):35-37.
15. Zatz M., Rapaport D., Vainzof M., et al. Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy. J Neurol Sci 1991, 102(2):190-196.
16. Malik V., Rodino-Klapac L.R., Viollet L., et al. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 2010, 67(6):771-780.
17. Flanigan K.M. The muscular dystrophies. Semin Neurol 2012, 32(3):255-263.
18. Ayoglu B., Chaouch A., Lochmüller H., et al. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med 2014, 6(7):918-936.
19. Brown K.J., Marathi R., Fiorillo A.A., et al. Accurate quantitation of protein in human skeletal muscle using mass spectrometry. J Bioanal Biomed 2012, Suppl 7:001.
20. Kotelnikova E., Shkrob M.A., Pyatnitskiy M.A., Ferlini A., Daraselia N. Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy. PLoS Comput Biol 2012, 8(2):e1002365.
21. Bello L., Piva L., Barp A., et al. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012, 79(2):159-162.
22. Flanigan K.M., Dunn D.M., von Niederhausern A., et al. United Dystrophinopathy Project Consortium, Weiss RB. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 2009, 30(12):1657-1666.
23. Heydemann A., Ceco E., Lim J.E., et al. Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. Ann Neurol 2013, 73(4):481-488.
24. Flanigan K.M., Ceco E., Lamar K.M., et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol 2013, 73(4):481-488.
25. Vignier N., Amor F., Fogel P., et al. Distinctive serum miRNA profile in mouse models of striated muscular pathologies. PLoS ONE 2013, 8(2):e55281.
26. Jeanson-Leh L., Lameth J., Krimi S., et al. Serum Profiling Identifies Novel Muscle miRNA and Cardiomyopathy-Related miRNA Biomarkers in Golden Retriever Muscular Dystrophy Dogs and Duchenne Muscular Dystrophy Patients. Am J Pathol 2014, 184(11):2885-2898.
27. Spitali P., van den Bergen J.C., Verhaart I.E., et al. DMD transcript imbalance determines dystrophin levels. FASEB J 2013, 27(12):4909-4916.
28. Nadarajah V.D., van Putten M., Chaouch A., et al. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord 2011, 21(8):569-578.
29. Klimiuk P.A., Sierakowski S., Latosiewicz R., Cylwik B., Skowronski J., Chwiecko J. Serum matrix metalloproteinases and tissue inhibitors of metalloproteinases in different histological variants of rheumatoid synovitis. Rheumatology (Oxford) 2002, 41(1):78-87.
30. Li H., Mittal A., Makonchuk D.Y., Bhatnagar S., Kumar A. Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy. Hum Mol Genet 2009, 18(14):2584-2598.
31. Hindi S.M., Shin J., Ogura Y., Li H., Kumar A. Matrix metalloproteinase-9 inhibition improves proliferation and engraftment of myogenic cells in dystrophic muscle of mdx mice. PLoS ONE 2013, 8(8):e72121.
32. Brinkmeier H., Ohlendieck K. Chaperoning heat shock proteins: proteomic analysis and relevance for normal and dystrophin-deficient muscle. Proteomics Clin Appl 2014, Epub 14.06.03.
33. Holland A., Ohlendieck K. Proteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathy. Biomed Res Int 2014, 2014:246195.
34. Muntoni F. The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009. Neuromuscul Disord 2010, 20(5):355-362. Meeting Steering Committee and TREAT-NMD Network.
35. Arechavala-Gomeza V., Kinali M., Feng L., et al. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol 2010, 36(4):265-274.
36. Taylor L.E.1., Kaminoh Y.J., Rodesch C.K., Flanigan K.M. Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens. Neuropathol Appl Neurobiol 2012, 38(6):591-601.
37. Anthony K., Arechavala-Gomeza V., Taylor L.E., et al. Dystrophin quantification: Biological and translational research implications. Neurology 2014, 83(22):2062-2069.
38. McDonald C.M., Henricson E.K., Abresch R.T., et al. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve 2013, 48(3):343-356.
39. Mazzone E.S., Pane M., Sormani M.P., et al. 24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS ONE 2013, 8(1):e52512.
40. Pane M., Scalise R., Berardinelli A., et al. Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord 2013, 23(6):451-455.
41. Pinotsis N., Chatziefthimiou S.D., Berkemeier F., et al. Superhelical architecture of the myosin filament-linking protein myomesin with unusual elastic properties. PLoS Biol 2012, 10(2):e1001261.
42. Fougerousse F., Bartoli M., Poupiot J., et al. Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Mol Ther 2007, 15(1):53-61.
43. Rouillon J., Zocevic A., Leger T., et al. Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy. Neuromuscul Disord 2014, 24(7):563-573.
44. Swaggart K.A.1., Demonbreun A.R., Vo A.H., et al. Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. Proc Natl Acad Sci U S A 2014, 111(16):6004-6009.
45. Ricotti V., Ridout D.A., Scott E., et al. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry 2013, 84:698-705.
46. Bigot A., Jacquemin V., Debacq-Chainiaux F., et al. Replicative aging down-regulates the myogenic regulatory factors in human myoblasts. Biol Cell 2008, 100(3):189-199.
47. Gidaro T., Negroni E., Perié S., et al. Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients. J Neuropathol Exp Neurol 2013, 72(3):234-243.
48. Zhu C.H., Mouly V., Cooper R.N., et al. Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies. Aging Cell 2007, 6(4):515-523.
49. Conboy I.M., Conboy M.J., Wagers A.J., Girma E.R., Weissman I.L., Rando T.A. Rejuvenation of aged progenitor cells by exposure to a young systemic environment. Nature 2005, 433(7027):760-764.
50. Carlson M.E., Conboy I.M. Loss of stem cell regenerative capacity within aged niches. Aging Cell 2007, 6(3):371-382.
51. Le Bihan M.C., Bigot A., Jensen S.S., et al. In-depth analysis of the secretome identifies three major independent secretory pathways in differentiating human myoblasts. J Proteomics 2012, 77:344-356.
52. Duguez S., Duddy W., Johnston H., et al. Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion. Cell Mol Life Sci 2013, 70(12):2159-2174.
53. Connolly A.M., Florence J.M., Cradock M.M., et al. Motor and cognitive assessment of infants and young boys with Duchenne muscular dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord 2013, 23(7):529-539.
54. van den Bergen J.C., Hiller M., Böhringer S., et al. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry 2014.