Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica
Sponsor study identifier
observational
60
1 country
2
Study Start
September 2015
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
August 2016
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
September 2016
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders. Muscle quality in patients with Late Onset Pompe Disease (Acid Maltase Deficiency type 2) and in patients with Myotonica Dystrophy will be evaluated, by determining muscle strength in relation to muscle size and muscle strength in relations to fat-muscle ratio.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
September 2016
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
September 2015
Date type not reportedThis date has not been verified as actual or estimated.
December 8, 2015
Actual (reported)March 15, 2016
Actual (reported)August 2016
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
September 2016
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Muscle strength in Newton*meter
Muscle strength in measured by dynamometry, and the used outcome is the "peak torque".
one year
Muscle to fat ratio
Calculated from the MR-images, is a measure for muscle quality. The calculations are based on the signal intensity of the fat and water Dixon MR-images.
one year
Volume ratio
Defined from the MR-images, is a measure for muscle quality.
one year
6 minutes walking test
one year
Forced Vital Function
on year
Patients will perform muscle strength measurement with dynamometer and MR-imaging. After 8 months the investigations will be repeated.
Patients will perform muscle strength measurement with dynamometer and MR-imaging. The investigations will not be repeated after 8 months.
Patients will perform muscle strength measurement with dynamometer and MR-imaging. The investigations will not be repeated after 8 months.
Patients will be recruited trough their attendance to the Hospital. Pompe disease patients will be recruited from all the treating hospitals in Denmark and from the University hospital of Münster. Patients with Myotonic Dystrophy will be recruited trough their attendance at Aarhus University Hospital. Healthy controls will be recruited from the general Danish population.
Department of Neurology, Aarhus University Hospital
Aarhus C, 8000, Denmark
MR centre, Skejby University Hospital.
Aarhus N, 8200, Denmark
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, Sandkuijl LA, Reuser AJ, van der Ploeg AT. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999 Sep;7(6):713-6. doi: 10.1038/sj.ejhg.5200367.
van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X.
Henning Andersen, Professor
Aarhus University Hospital
First Submitted
December 8, 2015
First Posted
March 15, 2016
Study Start
September 2015
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
August 2016
Estimated (date passed)Immune Modulation Therapy for Pompe Disease
Contact the study team to confirm eligibility.
Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005 Mar;128(Pt 3):671-7. doi: 10.1093/brain/awh384. Epub 2005 Jan 19.
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859.
Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013 Apr;260(4):951-9. doi: 10.1007/s00415-012-6636-x. Epub 2012 Aug 28.
Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Waldek S, Hughes DA, Lachmann RH, Logan S. Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. 2014 Nov;37(6):945-52. doi: 10.1007/s10545-014-9728-1. Epub 2014 Jun 7.
Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging. 2007 Feb;25(2):433-40. doi: 10.1002/jmri.20804.
Ponrartana S, Ramos-Platt L, Wren TA, Hu HH, Perkins TG, Chia JM, Gilsanz V. Effectiveness of diffusion tensor imaging in assessing disease severity in Duchenne muscular dystrophy: preliminary study. Pediatr Radiol. 2015 Apr;45(4):582-9. doi: 10.1007/s00247-014-3187-6. Epub 2014 Sep 23.
Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N, Annane D, Carlier PG, Orlikowski D. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord. 2011 Nov;21(11):791-9. doi: 10.1016/j.nmd.2011.06.748. Epub 2011 Jul 30.
Pichiecchio A, Uggetti C, Ravaglia S, Egitto MG, Rossi M, Sandrini G, Danesino C. Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord. 2004 Jan;14(1):51-5. doi: 10.1016/j.nmd.2003.08.003.
Vielhaber S, Brejova A, Debska-Vielhaber G, Kaufmann J, Feistner H, Schoenfeld MA, Awiszus F. 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin Neurol Neurosurg. 2011 Jun;113(5):350-7. doi: 10.1016/j.clineuro.2010.09.016. Epub 2011 Apr 7.
Alejaldre A, Diaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Moris G, Muelas N, Vilchez JJ, Garcia-Medina A, Uson M, Martinez Garcia FA, Illa I, Pichiecchio A. Trunk muscle involvement in late-onset Pompe disease: study of thirty patients. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54. doi: 10.1016/j.nmd.2012.05.011.
Pichiecchio A, Poloni GU, Ravaglia S, Ponzio M, Germani G, Maranzana D, Costa A, Repetto A, Tavazzi E, Danesino C, Moglia A, Bastianello S. Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful? Muscle Nerve. 2009 Jul;40(1):122-5. doi: 10.1002/mus.21304.
Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Saeidi Garaghani K, Poloni GU, Toscano A, Moglia A, Carlucci A, Bini P, Ceroni M, Bastianello S. Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis. 2010 Dec;33(6):737-45. doi: 10.1007/s10545-010-9204-5. Epub 2010 Sep 16.
Andreassen CS, Schlutter JM, Vissing J, Andersen H. Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up. Mol Genet Metab. 2014 May;112(1):40-3. doi: 10.1016/j.ymgme.2014.02.015. Epub 2014 Mar 5.
Hiba B, Richard N, Hebert LJ, Cote C, Nejjari M, Vial C, Bouhour F, Puymirat J, Janier M. Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI. J Magn Reson Imaging. 2012 Mar;35(3):678-85. doi: 10.1002/jmri.22849. Epub 2011 Nov 8.
This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
September 2016
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Last Updated
March 15, 2016
Record last verified: 2015-11
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