Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A Multicentre Longitudinal Study

Tracey A Willis; Kieren G Hollingsworth; Anna Coombs; Marie-Louise Sveen; Søren Peter Andersen; Tanya Stojkovic; Michelle Eagle; Anna Mayhew; Paulo L de Sousa; Liz Dewar; Jasper M Morrow; Christopher D J Sinclair; John S Thornton; Kate Bushby; Hanns Lochmüller; Michael G Hanna; Jean-Yves Hogrel; Pierre G Carlier; John Vissing; Volker Straub

doi:10.1371/journal.pone.0070993

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A Multicentre Longitudinal Study

Tracey A Willis, Kieren G Hollingsworth, Anna Coombs, Marie-Louise Sveen, Søren Peter Andersen, Tanya Stojkovic, Michelle Eagle, Anna Mayhew, Paulo L de Sousa, Liz Dewar, Jasper M Morrow, Christopher D J Sinclair, John S Thornton, Kate Bushby, Hanns Lochmüller, Michael G Hanna, Jean-Yves Hogrel, Pierre G Carlier, John Vissing, Volker Straub

Institut for Klinisk Medicin

114 Citationer (Scopus)

Abstract

Background:Outcome measures for clinical trials in neuromuscular diseases are typically based on physical assessments which are dependent on patient effort, combine the effort of different muscle groups, and may not be sensitive to progression over short trial periods in slow-progressing diseases. We hypothesised that quantitative fat imaging by MRI (Dixon technique) could provide more discriminating quantitative, patient-independent measurements of the progress of muscle fat replacement within individual muscle groups.Objective:To determine whether quantitative fat imaging could measure disease progression in a cohort of limb-girdle muscular dystrophy 2I (LGMD2I) patients over a 12 month period.Methods:32 adult patients (17 male;15 female) from 4 European tertiary referral centres with the homozygous c.826C>A mutation in the fukutin-related protein gene (FKRP) completed baseline and follow up measurements 12 months later. Quantitative fat imaging was performed and muscle fat fraction change was compared with (i) muscle strength and function assessed using standardized physical tests and (ii) standard T1-weighted MRI graded on a 6 point scale.Results:There was a significant increase in muscle fat fraction in 9 of the 14 muscles analyzed using the quantitative MRI technique from baseline to 12 months follow up. Changes were not seen in the conventional longitudinal physical assessments or in qualitative scoring of the T₁w images.Conclusions:Quantitative muscle MRI, using the Dixon technique, could be used as an important longitudinal outcome measure to assess muscle pathology and monitor therapeutic efficacy in patients with LGMD2I.

Originalsprog	Engelsk
Artikelnummer	e70993
Tidsskrift	P L o S One
Vol/bind	8
Udgave nummer	8
Sider (fra-til)	1-7
Antal sider	7
ISSN	1932-6203
DOI	https://doi.org/10.1371/journal.pone.0070993
Status	Udgivet - 14 aug. 2013

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10.1371/journal.pone.0070993

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Willis, T. A., Hollingsworth, K. G., Coombs, A., Sveen, M-L., Andersen, S. P., Stojkovic, T., Eagle, M., Mayhew, A., de Sousa, P. L., Dewar, L., Morrow, J. M., Sinclair, C. D. J., Thornton, J. S., Bushby, K., Lochmüller, H., Hanna, M. G., Hogrel, J-Y., Carlier, P. G., Vissing, J., & Straub, V. (2013). Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A Multicentre Longitudinal Study. P L o S One, 8(8), 1-7. [e70993]. https://doi.org/10.1371/journal.pone.0070993

Willis, TA, Hollingsworth, KG, Coombs, A, Sveen, M-L, Andersen, SP, Stojkovic, T, Eagle, M, Mayhew, A, de Sousa, PL, Dewar, L, Morrow, JM, Sinclair, CDJ, Thornton, JS, Bushby, K, Lochmüller, H, Hanna, MG, Hogrel, J-Y, Carlier, PG, Vissing, J & Straub, V 2013, 'Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A Multicentre Longitudinal Study', P L o S One, bind 8, nr. 8, e70993, s. 1-7. https://doi.org/10.1371/journal.pone.0070993

@article{57560282d71e441d92a1cb41b9a158db,

title = "Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A Multicentre Longitudinal Study",

abstract = "Background:Outcome measures for clinical trials in neuromuscular diseases are typically based on physical assessments which are dependent on patient effort, combine the effort of different muscle groups, and may not be sensitive to progression over short trial periods in slow-progressing diseases. We hypothesised that quantitative fat imaging by MRI (Dixon technique) could provide more discriminating quantitative, patient-independent measurements of the progress of muscle fat replacement within individual muscle groups.Objective:To determine whether quantitative fat imaging could measure disease progression in a cohort of limb-girdle muscular dystrophy 2I (LGMD2I) patients over a 12 month period.Methods:32 adult patients (17 male;15 female) from 4 European tertiary referral centres with the homozygous c.826C>A mutation in the fukutin-related protein gene (FKRP) completed baseline and follow up measurements 12 months later. Quantitative fat imaging was performed and muscle fat fraction change was compared with (i) muscle strength and function assessed using standardized physical tests and (ii) standard T1-weighted MRI graded on a 6 point scale.Results:There was a significant increase in muscle fat fraction in 9 of the 14 muscles analyzed using the quantitative MRI technique from baseline to 12 months follow up. Changes were not seen in the conventional longitudinal physical assessments or in qualitative scoring of the T1w images.Conclusions:Quantitative muscle MRI, using the Dixon technique, could be used as an important longitudinal outcome measure to assess muscle pathology and monitor therapeutic efficacy in patients with LGMD2I.",

author = "Willis, {Tracey A} and Hollingsworth, {Kieren G} and Anna Coombs and Marie-Louise Sveen and Andersen, {S{\o}ren Peter} and Tanya Stojkovic and Michelle Eagle and Anna Mayhew and {de Sousa}, {Paulo L} and Liz Dewar and Morrow, {Jasper M} and Sinclair, {Christopher D J} and Thornton, {John S} and Kate Bushby and Hanns Lochm{\"u}ller and Hanna, {Michael G} and Jean-Yves Hogrel and Carlier, {Pierre G} and John Vissing and Volker Straub",

year = "2013",

month = aug,

day = "14",

doi = "10.1371/journal.pone.0070993",

language = "English",

volume = "8",

pages = "1--7",

journal = "PLoS Computational Biology",

issn = "1932-6203",

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TY - JOUR

T1 - Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I

T2 - A Multicentre Longitudinal Study

AU - Willis, Tracey A

AU - Hollingsworth, Kieren G

AU - Coombs, Anna

AU - Sveen, Marie-Louise

AU - Andersen, Søren Peter

AU - Stojkovic, Tanya

AU - Eagle, Michelle

AU - Mayhew, Anna

AU - de Sousa, Paulo L

AU - Dewar, Liz

AU - Morrow, Jasper M

AU - Sinclair, Christopher D J

AU - Thornton, John S

AU - Bushby, Kate

AU - Lochmüller, Hanns

AU - Hanna, Michael G

AU - Hogrel, Jean-Yves

AU - Carlier, Pierre G

AU - Vissing, John

AU - Straub, Volker

PY - 2013/8/14

Y1 - 2013/8/14

N2 - Background:Outcome measures for clinical trials in neuromuscular diseases are typically based on physical assessments which are dependent on patient effort, combine the effort of different muscle groups, and may not be sensitive to progression over short trial periods in slow-progressing diseases. We hypothesised that quantitative fat imaging by MRI (Dixon technique) could provide more discriminating quantitative, patient-independent measurements of the progress of muscle fat replacement within individual muscle groups.Objective:To determine whether quantitative fat imaging could measure disease progression in a cohort of limb-girdle muscular dystrophy 2I (LGMD2I) patients over a 12 month period.Methods:32 adult patients (17 male;15 female) from 4 European tertiary referral centres with the homozygous c.826C>A mutation in the fukutin-related protein gene (FKRP) completed baseline and follow up measurements 12 months later. Quantitative fat imaging was performed and muscle fat fraction change was compared with (i) muscle strength and function assessed using standardized physical tests and (ii) standard T1-weighted MRI graded on a 6 point scale.Results:There was a significant increase in muscle fat fraction in 9 of the 14 muscles analyzed using the quantitative MRI technique from baseline to 12 months follow up. Changes were not seen in the conventional longitudinal physical assessments or in qualitative scoring of the T1w images.Conclusions:Quantitative muscle MRI, using the Dixon technique, could be used as an important longitudinal outcome measure to assess muscle pathology and monitor therapeutic efficacy in patients with LGMD2I.

AB - Background:Outcome measures for clinical trials in neuromuscular diseases are typically based on physical assessments which are dependent on patient effort, combine the effort of different muscle groups, and may not be sensitive to progression over short trial periods in slow-progressing diseases. We hypothesised that quantitative fat imaging by MRI (Dixon technique) could provide more discriminating quantitative, patient-independent measurements of the progress of muscle fat replacement within individual muscle groups.Objective:To determine whether quantitative fat imaging could measure disease progression in a cohort of limb-girdle muscular dystrophy 2I (LGMD2I) patients over a 12 month period.Methods:32 adult patients (17 male;15 female) from 4 European tertiary referral centres with the homozygous c.826C>A mutation in the fukutin-related protein gene (FKRP) completed baseline and follow up measurements 12 months later. Quantitative fat imaging was performed and muscle fat fraction change was compared with (i) muscle strength and function assessed using standardized physical tests and (ii) standard T1-weighted MRI graded on a 6 point scale.Results:There was a significant increase in muscle fat fraction in 9 of the 14 muscles analyzed using the quantitative MRI technique from baseline to 12 months follow up. Changes were not seen in the conventional longitudinal physical assessments or in qualitative scoring of the T1w images.Conclusions:Quantitative muscle MRI, using the Dixon technique, could be used as an important longitudinal outcome measure to assess muscle pathology and monitor therapeutic efficacy in patients with LGMD2I.

U2 - 10.1371/journal.pone.0070993

DO - 10.1371/journal.pone.0070993

M3 - Journal article

C2 - 23967145

SN - 1932-6203

VL - 8

SP - 1

EP - 7

JO - PLoS Computational Biology

JF - PLoS Computational Biology

IS - 8

M1 - e70993

ER -

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A Multicentre Longitudinal Study

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