Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy

Neuromuscular Disorders

Volumn 23, Issue 4, 2013, Pages 306-312

  Statland, Jeffrey M ^a   McDermott, Michael P ^a   Heatwole, Chad ^a   Martens, William B ^a   Pandya, Shree ^a   van der Kooi, E L ^b   Kissel, John T ^c   Wagner, Kathryn R ^d   Tawil, Rabi ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b MEDICAL CENTER LEEUWARDEN   (Netherlands)

^c OHIO STATE UNIVERSITY   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

All clinical trials; All neuromuscular disease; Clinical trials methodology study design; Muscle disease; Outcome research

Indexed keywords

PLACEBO; SALBUTAMOL;

ADULT; ARTICLE; DATA ANALYSIS; DISEASE COURSE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MANUAL MUSCLE TESTING; MAXIMAL VOLUNTARY ISOMETRIC CONTRACTION TESTING; MUSCLE EXAMINATION; MUSCLE ISOMETRIC CONTRACTION; MUSCLE STRENGTH; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); RESISTANCE TRAINING; TREATMENT OUTCOME;

ADULT; DISEASE PROGRESSION; FEMALE; HUMANS; ISOMETRIC CONTRACTION; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MUSCLE STRENGTH; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; RANDOMIZED CONTROLLED TRIALS AS TOPIC;

EID: 84874968179     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.01.008     Document Type: Article

References (33)

1. Flanigan K.M., Coffeen C.M., Sexton L., Stauffer D., Brunner S., Leppert M.F. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 2001, 11:525-529.
2. Mostacciuolo M.L., Pastorello E., Vazza G., et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009, 75:550-555.
3. Padberg GW. Facioscapulohumeral disease. Thesis. Leiden (The Netherlands): University of Leiden; 1982.
4. van der Maarel S.M., Tawil R., Tapscott S.J. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med 2011, 17:252-258.
5. Clapp J., Mitchell L.M., Bolland D.J., et al. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007, 81:264-279.
6. Gabriels J., Beckers M.C., Ding H., et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3kb element. Gene 1999, 236:25-32.
7. Lyle R., Wright T.J., Clark L.N., Hewitt J.E. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 1995, 28:389-397.
8. Dixit M., Ansseau E., Tassin A., et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc. Natl. Acad. Sci. USA 2007, 104:18157-18162.
9. Lemmers R.J., van der Vliet P.J., Klooster R., et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329:1650-1653.
10. Snider L., Geng L.N., Lemmers R.J., et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet 2010, 6:e1001181.
11. Bosnakovski D., Daughters R.S., Xu Z., Slack J.M., Kyba M. Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS ONE 2009, 4:e7003.
12. Kowaljow V., Marcowycz A., Ansseau E., et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 2007, 17:611-623.
13. Snider L., Asawachaicharn A., Tyler A.E., et al. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet 2009, 18:2414-2430.
14. Vanderplanck C., Ansseau E., Charron S., et al. The FSHD atrophic myotube phenotype is caused by DUX4 expression. PLoS ONE 2011, 6:e26820.
15. Wuebbles R.D., Long S.W., Hanel M.L., Jones P.L. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int J Clin Exp Pathol 2010, 3:386-400.
16. Brooke M.H., Griggs R.C., Mendell J.R., Fenichel G.M., Shumate J.B., Pellegrino R.J. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve 1981, 4:186-197.
17. Merkies I.S., Faber C.G. Outcome measures in Duchenne muscular dystrophy: are we ready for the new therapeutic era?. Neuromuscul Disord 2009, 19:447.
18. Personius K.E., Pandya S., King W.M., Tawil R., McDermott M.P. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys. Ther. 1994, 74:253-263.
19. Great Lakes ALS. A comparison of muscle strength testing techniques in amyotrophic lateral sclerosis. Neurology 2003;61:1503-7.
20. FSH-DY. A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group. Neurology 1997;48:38-46.
21. Kissel J.T., McDermott M.P., Mendell J.R., et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology 2001, 57:1434-1440.
22. van der Kooi E.L., Vogels O.J., van Asseldonk R.J., et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology 2004, 63:702-708.
23. Wagner K.R., Fleckenstein J.L., Amato A.A., et al. A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol 2008, 63:561-571.
24. Tawil R., McDermott M.P., Mendell J.R., Kissel J., Griggs R.C. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology 1994, 44:442-446.
25. Orrell R.W., Tawil R., Forrester J., Kissel J.T., Mendell J.R., Figlewicz D.A. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 1999, 52:1822-1826.
26. van Deutekom J.C., Bakker E., Lemmers R.J., et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996, 5:1997-2003.
27. Payan C.A., Hogrel J.Y., Hammouda E.H., et al. Periodic salbutamol in facioscapulohumeral muscular dystrophy: a randomized controlled trial. Arch Phys Med Rehabil 2009, 90:1094-1101.
28. Pareyson D., Reilly M.M., Schenone A., et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 2011, 10:320-328.
29. Mellone S, Tacconi C, Chiari L. Validity of a Smartphone-based instrumented Timed Up and Go. Gait Posture; 2012.
30. Benedetti F., Carlino E., Pollo A. How placebos change the patient's brain. Neuropsychopharmacology 2011, 36:339-354.
31. Finniss D.G., Kaptchuk T.J., Miller F., Benedetti F. Biological, clinical, and ethical advances of placebo effects. Lancet 2010, 375:686-695.
32. Oken B.S. Placebo effects: clinical aspects and neurobiology. Brain 2008, 131:2812-2823.
33. Hrobjartsson A, Gotzsche PC. Placebo interventions for all clinical conditions. Cochrane Database Syst Rev 2010:CD003974.