Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

Figueroa-Bonaparte, S.; Llauger, Jaume; Segovia, Sonia; Belmonte, Izaskun; Pedrosa, Irene; Montiel, Elena; Montesinos, Paula; Sánchez‐González, Javier; Alonso‐Jiménez, Alicia; Gallardo, Eduard; Illa, Isabel; Díaz‐Manera, Jordi

doi:10.1038/s41598-018-29170-7

Cited by 48 publications

(48 citation statements)

References 46 publications

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“…The demographic and clinical data of these two groups are described in Table 1. Results of the motor function tests and muscle MRI of the Pompe cohort has been already reported 15,16 . We compared the ELISA results with serums obtained from age- and sex-matched controls (n = 45).…”

Section: Resultsmentioning

confidence: 92%

PDGF-BB serum levels are decreased in adult onset Pompe patients

Fernández‐Simón

Carrasco‐Rozas

Gallardo

et al. 2019

Sci Rep

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Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. Motor functional tests and spirometry are commonly used to follow patients up. However, a serological biomarker that correlates with the progression of the disease could improve follow-up. We studied serum concentrations of TGFβ, PDGF-BB, PDGF-AA and CTGF growth factors in 37 adult onset Pompe patients and 45 controls. Moreover, all patients performed several muscle function tests, conventional spirometry, and quantitative muscle MRI using 3-point Dixon. We observed a statistically significant change in the serum concentration of each growth factor in patients compared to controls. However, only PDGF-BB levels were able to differentiate between asymptomatic and symptomatic patients, suggesting its potential role in the follow-up of asymptomatic patients. Moreover, our results point to a dysregulation of muscle regeneration as an additional pathomechanism of Pompe disease.

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Section: Resultsmentioning

confidence: 92%

PDGF-BB serum levels are decreased in adult onset Pompe patients

Fernández‐Simón

Carrasco‐Rozas

Gallardo

et al. 2019

Sci Rep

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“…The identification of new tools to follow‐up progression of patients is one of the hottest topics in the neuromuscular disorders field. In this sense, quantitative muscle MRI (qMRI) has revealed to be useful in several muscle disorders including Pompe disease . However, qMRI is not available in all centers and, experience is needed to analyze it properly.…”

Section: Introductionmentioning

confidence: 99%

Identification of serum microRNAs as potential biomarkers in Pompe disease

Carrasco‐Rozas

Fernández‐Simón

Lleixà

et al. 2019

Ann Clin Transl Neurol

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Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expression levels of microRNAs that were deregulated were further studied in 35 AOPD patients and 10 controls using Real‐Time PCR. Additionally, the skeletal muscle expression of microRNAs which showed significant increase levels in serum samples was also studied. Correlations between microRNA serum levels and muscle function test, spirometry, and quantitative muscle MRI were performed (these data correspond to the study NCT01914536 at ClinicalTrials.gov). Results We identified 14 microRNAs that showed different expression levels in serum samples of AOPD patients compared to controls. We validated these results in a larger cohort of patients and we found increased levels of three microRNAs, the so called dystromirs: miR‐1‐3p, miR‐133a‐3p, and miR‐206. These microRNAs are involved in muscle regeneration and the expression of these was increased in patients' muscle biopsies. Significant correlations between microRNA levels and muscle function test were found. Interpretation Serum expression levels of dystromirs may represent additional biomarkers for the follow‐up of AOPD patients.

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“…No significant changes either in muscle MRI in asymptomatic patients were observed over the year. To date muscle MRI is a useful tool for detecting changes in muscle structure in symptomatic LOPD patients and could become part of the current follow-up protocol in the clinical management [ 84 ].…”

Section: Diagnosis Of Pdmentioning

confidence: 99%

Pompe disease: pathogenesis, molecular genetics and diagnosis

Taverna

Cammarata

Colomba

et al. 2020

Aging

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Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported. GAA catalyzes the hydrolysis of α-1,4 and α-1,6-glucosidic bonds of glycogen and its deficiency leads to lysosomal storage of glycogen in several tissues, particularly in muscle. PD is a chronic and progressive pathology usually characterized by limb-girdle muscle weakness and respiratory failure. PD is classified as infantile and childhood/adult forms. PD patients exhibit a multisystemic manifestation that depends on age of onset. Early diagnosis is essential to prevent or reduce the irreversible organ damage associated with PD progression. Here, we make an overview of PD focusing on pathogenesis, clinical phenotypes, molecular genetics, diagnosis, therapies, autophagy and the role of miRNAs as potential biomarkers for PD.

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Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

Cited by 48 publications

References 46 publications

PDGF-BB serum levels are decreased in adult onset Pompe patients

PDGF-BB serum levels are decreased in adult onset Pompe patients

Identification of serum microRNAs as potential biomarkers in Pompe disease

Pompe disease: pathogenesis, molecular genetics and diagnosis

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