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

Khan, Aleena; Boggs, Tracy; Bowling, Michael; Austin, Stephanie; Ștefănescu, Mihaela; Case, Laura E.; Kishnani, Priya S.

doi:10.1002/jimd.12190

Cited by 14 publications

(23 citation statements)

References 20 publications

(60 reference statements)

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“…However, the muscles most commonly involved, and the difference in PDFF between specific muscles in the IPD and LOPD cohorts varied. The involvement of the rectus, vastus, and gluteus muscles in Pompe disease, both LOPD and IPD, has previously been established 12,13,17,18 . However, the level of involvement of the anterior tibialis in the LOPD cohort is of interest and potentially novel.…”

Section: Discussionmentioning

confidence: 98%

“…Each movement is graded on a scale from 0 (no movement) to 5 (full movement) with additional values (0, 1, 2−, 2, 2+, 3−, 3, 3+, 4−, 4, 4+, 5−, 5) that represented intermediate performance. As previously published, this 0 to 5 scale was converted to a 0 to 12‐point scale to organize scoring in a linear manner 13 …”

Section: Methodsmentioning

confidence: 99%

“…Each patient received a WBMRI scan on the same 3 T MRI system. Imaging was performed in the supine position, and axial images were captured, as previously reported by Khan et al 13 On average, scans took 60‐90 minutes, capturing 11 sequences per anatomical location; each one was evaluated for anatomy, pathology and artifact.…”

Section: Methodsmentioning

confidence: 99%

“…WBMRI produces images where intramuscular fat percentage can be quantified through a parameter known as proton density fat fraction (PDFF) 12 . Our group recently demonstrated that PDFF is a sensitive indicator of disease status as performance across various PT assessments correlated highly with PDFF 13 . This enables the use of PDFF to monitor patients and evaluate the response to therapy.…”

Section: Introductionmentioning

confidence: 99%

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Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease

et al. 2020

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ObjectiveSince the introduction of enzyme replacement therapy (ERT) with alglucosidase alfa, there has been increased survival in patients with Pompe disease. It is essential to characterize and quantify the burden of disease in these patients. Here, we report a measure of muscle fat infiltration in children with infantile and pediatric late‐onset Pompe disease (IPD and LOPD, respectively) to better understand the extent of muscle involvement.MethodsEleven pediatric patients with Pompe disease (five IPD, six LOPD), ages 7‐17 years, received whole‐body magnetic resonance imaging (WBMRI), muscle strength testing using the modified Medical Research Council (mMRC) scale, functional assessment using gait, stairs, gowers, chair (GSGC), and urine glucose tetrasaccharide (Glc4) testing. The intramuscular fat seen on WBMRI was quantified using proton density fat fraction (PDFF) and correlated to appropriate muscle strength and functional tests, and urine Glc4.ResultsPatients with IPD, although younger, had higher mean PDFF values than LOPD patients (11.61% vs 8.52%). Significant correlation existed between PDFF and the GSGC assessment (r = .9273, P = .0003). Moderate correlation existed between PDFF and mMRC (r = −.667, P = .0831), and PDFF and urine Glc4 (r = .6121, P = .0667). Anterior tibialis was in the top quartile of muscle involvement for patients with LOPD.ConclusionIn the past, physical therapy assessments alone have been used to track disease progression. Here, we show the clinical utility of WBMRI in quantifying muscle involvement in children with Pompe disease, especially regarding the novel involvement of anterior tibialis in children with LOPD, to better assess baseline muscle burden and mapping disease progression in children treated with ERT.

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Section: Discussionmentioning

confidence: 98%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease

et al. 2020

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“…Muscle magnetic resonance imaging (MRI) is a useful tool in detecting muscle changes in symptomatic patients with late‐onset Pompe disease, another lysosomal storage disorder, even in the absence of changes in motor function and patient‐reported outcomes 11 . Furthermore, the amount of muscle fat infiltration on MRI correlates strongly with muscle strength and functional testing in late‐onset Pompe disease; therefore, the application of muscle MRI to the study of cystinosis myopathy may prove useful 12 . A large multicenter outcome study of cystinosis myopathy is the path forward.…”

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confidence: 99%

Cystinosis myopathy: Searching for optimal clinical outcome measures

Kushlaf

2020

Muscle and Nerve

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Nephropathic cystinosis is a rare multisystemic, autosomal recessive, lysosomal storage disorder affecting 0.5-1 per 100 000 live births. Mutations in cystinosin, a lysosomal transporter, result in intralysosomal accumulation and crystallization of cystine in several organs including skeletal muscles. Systemic complications of cystinosis include Fanconi syndrome, hypothyroidism, diabetes mellitus, pancreatic exocrine deficiency, crystalline keratopathy, retinal blindness, hypogonadism, benign intracranial hypertension, central nervous system involvement, and vascular calcifications. Cysteamine and renal replacement therapies, including renal transplantation, prolong the life

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Skeletal muscle magnetic resonance imaging in Pompe disease

2020

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Pompe disease is characterized by a deficiency of acid alpha‐glucosidase that results in muscle weakness and a variable degree of disability. There is an approved therapy based on enzymatic replacement that has modified disease progression. Several reports describing muscle magnetic resonance imaging (MRI) features of Pompe patients have been published. Most of the studies have focused on late‐onset Pompe disease (LOPD) and identified a characteristic pattern of muscle involvement useful for the diagnosis. In addition, quantitative MRI studies have shown a progressive increase in fat in skeletal muscles of LOPD over time and they are increasingly considered a good tool to monitor progression of the disease. The studies performed in infantile‐onset Pompe disease patients have shown less consistent changes. Other more sophisticated muscle MRI sequences, such as diffusion tensor imaging or glycogen spectroscopy, have also been used in Pompe patients and have shown promising results.

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

Cited by 14 publications

References 20 publications

Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease

Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease

Cystinosis myopathy: Searching for optimal clinical outcome measures

Skeletal muscle magnetic resonance imaging in Pompe disease

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