An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-

NCT02708784 | Unknown DMC

• 1 other identifier: PsDM15RMBH
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Glycogen Storage Disease Type 2; Dystrophia Myotonica

Keywords

Glykogen storage disease type 2); Dystrophia Myotonica; Muscular disorders; MR-imaging; Muscle strength; Myopathies

Outcome Measures

Primary Outcomes (3)

• 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

Secondary Outcomes (2)

• 6 minutes walking test

  one year

• Forced Vital Function

  on year

Study Arms (3)

Pompe disease

Patients will perform muscle strength measurement with dynamometer and MR-imaging. After 8 months the investigations will be repeated.

Myotonic Dystrophy

Patients will perform muscle strength measurement with dynamometer and MR-imaging. The investigations will not be repeated after 8 months.

Healthy controls

Patients will perform muscle strength measurement with dynamometer and MR-imaging. The investigations will not be repeated after 8 months.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• Diagnosed Pompe disease patients, whether they are in treatment with ERT or not, or Diagnosed Dystrophia Myotonica patients.
• Healthy controls, have to be sex and age-matched to patients with muscular disease.

You may not qualify if:

• Age under 18 years.
• The subjects must be able to perform an MR-scanning. Moreover they have to sign and respect the MR security rules "Kontrol skema før MR undersøgelse" and "Patient information i forbindelse med MR scanning".
• The subjects must be capable of performing the muscle strength test by the Dynamometer.

Sponsors & Collaborators

• University of Aarhus: lead

Study Sites (2)

Department of Neurology, Aarhus University Hospital

Aarhus C, 8000, Denmark

Location

MR centre, Skejby University Hospital.

Aarhus N, 8200, Denmark

Location

Related Publications (16)

• 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.

  PMID: 10482961 BACKGROUND

• 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.

  PMID: 18929906 BACKGROUND

• 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.

  PMID: 15659425 BACKGROUND

• 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.

  PMID: 20393176 BACKGROUND

• 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.

  PMID: 22926164 BACKGROUND

• 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.

  PMID: 24906254 BACKGROUND

• 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.

  PMID: 17260395 BACKGROUND

• 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.

  PMID: 25246097 BACKGROUND

• 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.

  PMID: 21803581 BACKGROUND

• 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.

  PMID: 14659413 BACKGROUND

• 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.

  PMID: 21477922 BACKGROUND

• 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.

  PMID: 22980766 BACKGROUND

• 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.

  PMID: 19533640 BACKGROUND

• 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.

  PMID: 20844963 BACKGROUND

• 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.

  PMID: 24685124 BACKGROUND

• 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.

  PMID: 22069222 BACKGROUND

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Myotonic Dystrophy; Muscular Diseases

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Henning Andersen, Professor

  Aarhus University Hospital

  STUDY CHAIR

Study Design

• Study Type: observational
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 8, 2015
• First Posted: March 15, 2016
• Study Start: September 1, 2015
• Primary Completion: August 1, 2016
• Study Completion: September 1, 2016
• Last Updated: March 15, 2016

Record last verified: 2015-11

Data Sharing

• IPD Sharing: Will not share

Locations

DK (2)