ORIGINAL ARTICLE

Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures

Aleena A. Khan

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

Tracy Boggs

Division of Physical Therapy, Department of Community and Family Medicine, Duke University School of Medicine, Durham, North Carolina

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Michael Bowling,

Michael Bowling

Multi-Dimensional Image Processing Laboratory, Department of Radiology, Duke University School of Medicine, Durham, North Carolina

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Stephanie Austin,

Stephanie Austin

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

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Mihaela Stefanescu,

Mihaela Stefanescu

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

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Laura Case,

Laura Case

Division of Physical Therapy, Department of Community and Family Medicine, Duke University School of Medicine, Durham, North Carolina

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Priya S. Kishnani,

Corresponding Author

Priya S. Kishnani

[email protected]

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

Correspondence

Priya S. Kishnani, Duke University Medical Center, GSRB1 Box 103856, Durham, NC 27710.

Email: [email protected]

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Aleena A. Khan,

Aleena A. Khan

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

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Tracy Boggs,

Tracy Boggs

Division of Physical Therapy, Department of Community and Family Medicine, Duke University School of Medicine, Durham, North Carolina

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Michael Bowling,

Michael Bowling

Multi-Dimensional Image Processing Laboratory, Department of Radiology, Duke University School of Medicine, Durham, North Carolina

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Stephanie Austin,

Stephanie Austin

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

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Mihaela Stefanescu,

Mihaela Stefanescu

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

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Laura Case,

Laura Case

Division of Physical Therapy, Department of Community and Family Medicine, Duke University School of Medicine, Durham, North Carolina

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Priya S. Kishnani,

Corresponding Author

Priya S. Kishnani

[email protected]

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

Correspondence

Priya S. Kishnani, Duke University Medical Center, GSRB1 Box 103856, Durham, NC 27710.

Email: [email protected]

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First published: 11 November 2019

https://doi.org/10.1002/jimd.12190

Citations: 16

Communicating Editor: Jaak Jaeken

Funding information: Sanofi Genzyme

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Abstract

Whole-body magnetic resonance imaging (WBMRI) has clinical utility in measuring the amount of fatty infiltration in late-onset Pompe disease (LOPD). Muscle strength and function testing also provide valuable insight to the progression of myopathy seen in these patients. The main purpose of this study was to determine how closely muscle strength and functional testing correlate to the amount of fatty infiltration seen on WBMRI. LOPD patients were followed longitudinally and WBMRI, muscle strength testing using the modified Medical Research Council (mMRC) scale, muscle function testing using the Gait, Stairs, Gowers, Chair (GSGC) score, and labs including urinary glucose tetrasaccharide (Glc4) were performed at each visit. The amount of fat seen on WBMRI was quantified using proton density fat fraction (PDFF) and correlated to appropriate muscle strength and functional tests. Nineteen patients with LOPD aged 10 to 67 years were followed for a 1 to 2 year duration. There was a small increase of 1.26% (±2.57%) in overall PDFF per year in patients on ERT. Muscle strength (mMRC) and functional testing (GSGC) correlated highly with PDFF (r = −.7596, P < .0001 and r = .8267, P < .0001, respectively). Time to carry out individual tasks of the GSGC also correlated highly with PDFF of the muscles involved. Glc4 levels were normal on most visits (27/39) despite varying severity of muscle weakness in patients. Muscle strength and GSGC scores correlate highly with PDFF values from WBMRI. They may be used in assessing severity of muscle disease and to follow LOPD patients over time.

CONFLICT OF INTEREST

A.A.K., T.B., M.B., S.A., M.S. and L.C. declare that they have no conflict of interest.

P.S.K. has received grant support from Sanofi Genzyme, Valerion Therapeutics, Shire Pharmaceuticals and Amicus Therapeutics. P.S.K. has received consulting fees and honoraria from Sanofi Genzyme, Shire Pharmaceuticals, Amicus Therapeutics, Vertex Pharmaceuticals and Asklepios BioPharmaceutical, Inc. (AskBio). P.S.K. is a member of the Pompe and Gaucher Disease Registry Advisory Board for Sanofi Genzyme. P.S.K. has equity in AskBio, which is developing gene therapy for Pompe disease.

Open Research

DATA AVAILABILITY STATEMENT

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Supporting Information

Filename	Description
jimd12190-sup-0001-TableS1.docxWord 2007 document , 13 KB	Table S1 Muscles used in analysis of above movements
jimd12190-sup-0002-FigureS1.tifTIFF image, 689.7 KB	Figure S1 Correlation analyses of mean muscle PDFF values against their mMRC scores. mMRC, modified Medical Research Council scale; PDFF, proton density fat fraction
jimd12190-sup-0003-FigureS2.tifTIFF image, 443.5 KB	Figure S2 Correlation of time taken to carry out individual tasks of GSGC score with PDFF (%) of corresponding muscles. GSGC, Gait, Stairs, Gowers, Chair; PDFF, proton density fat fraction
jimd12190-sup-0004-FigureS3.tifTIFF image, 156.6 KB	Figure S3 Correlation of GSGC score with mMRC of muscles involved. GSGC, Gait, Stairs, Gowers, Chair; mMRC, modified Medical Research Council scale
jimd12190-sup-0005-FigureS4.7zPDF document, 263.2 KB	Figure S4 Progression of PDFF (a) mMRC (b) in our cohort of 19 patients. mMRC, modified Medical Research Council scale; PDFF, proton density fat fraction

Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Volume43, Issue3

May 2020

Pages 549-557

Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures

Abstract

CONFLICT OF INTEREST

Open Research

DATA AVAILABILITY STATEMENT

Supporting Information

REFERENCES

Citing Literature

References

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Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures

Abstract

CONFLICT OF INTEREST

Open Research

DATA AVAILABILITY STATEMENT

Supporting Information

REFERENCES

Citing Literature

References

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