scholarly journals Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

2016 ◽  
pp. 11-17 ◽  
Author(s):  
Gyani Swift ◽  
Maureen Cleary ◽  
Stephanie Grunewald ◽  
Sonia Lozano ◽  
Martina Ryan ◽  
...  
Keyword(s):  
Pompe Disease

Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study

2013 ◽  
Vol 126 (3-4) ◽  
pp. 133-137 ◽  
Author(s):  
Josko Markic ◽  
Branka Polic ◽  
Luka Stricevic ◽  
Vitomir Metlicic ◽  
Radenka Kuzmanic-Samija ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Immune Modulation ◽  
Follow Up Study

scholarly journals Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease

2017 ◽  
Vol 63 (7) ◽  
pp. 1271-1277 ◽  
Author(s):  
Hsuan-Chieh Liao ◽  
Min-Ju Chan ◽  
Chia-Feng Yang ◽  
Chuan-Chi Chiang ◽  
Dau-Ming Niu ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
Asian Population ◽  
Dried Blood Spots ◽  
Fluorimetric Assay ◽  
Analytical Range ◽  
Patient Referrals

Abstract BACKGROUND Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the number of patient referrals for clinical follow-up. METHODS We measured the enzymatic activity of GAA in dried blood spots on newborn screening cards (DBS) using a tandem mass spectrometry (MS/MS) assay. The assay displayed a relatively large analytical range compared to the fluorimetric assay with 4-methylumbelliferyl-α-glucoside. DBS from newborns confirmed to have infantile-onset Pompe disease (IOPD, n = 11) or late-onset Pompe disease (LOPD) (n = 12) and those from patients bearing pseudodeficiency alleles with or without Pompe mutations, or Pompe disease carriers (n = 230) were studied. RESULTS With use of the MS/MS GAA assay in DBS, 96% of the pseudodeficiency newborns and all of the Pompe disease carriers were well separated from the IOPD and LOPD newborns. The fluorimetric assay separated <10% of the pseudodeficiencies from the IOPD/LOPD group. CONCLUSIONS The relatively large analytical range MS/MS GAA assay but not the fluorimetric assay in DBS provides a robust approach to reduce the number of referrals and should dramatically facilitate newborn screening of Pompe disease.

scholarly journals M Mode Ultrasound and Tissue Doppler Imaging to Assess Diaphragm Function in Late Onset Pompe Disease

2020 ◽  
Author(s):  
Paris Meng ◽  
Adam Ogna ◽  
Abdallah Fayssoil
Keyword(s):  
Tissue Doppler Imaging ◽  
Pompe Disease ◽  
Skeletal Muscles ◽  
Storage Disease ◽  
Late Onset ◽  
Tissue Doppler ◽  
Doppler Imaging ◽  
Lysosomal Storage ◽  
Diaphragm Function

Late onset Pompe disease is a recessive lysosomal storage disease. Clinical features include skeletal muscles deficiency and diaphragm weakness. Clinical management relies on supportive treatment and mechanical ventilation in patents with chronic respiratory failure. M mode ultrasound and tissue Doppler imaging can be used to assess and to follow up diaphragm function.

Genetics of cardiomyopathies: myocardial infiltration

ESC CardioMed ◽  
2018 ◽  
pp. 710-713
Author(s):  
Frank Weidemann
Keyword(s):  
Heart Failure ◽  
Pompe Disease ◽  
Genetic Disease ◽  
Neurological Disease ◽  
Diastolic Filling ◽  
Potential Treatment ◽  
Infiltrative Cardiomyopathy ◽  
Storage Products ◽  
Storage Disorders

Genetic disease can lead to myocardial infiltration which results in a cardiomyopathy characterized by the deposition of storage products within ventricular walls. The storage is inducing diastolic filling abnormalities which are finally responsible for the symptoms such as dyspnoea. During follow-up most patients die because of heart failure. Transthyretin-related amyloidosis is the most common infiltrative cardiomyopathy. Rarer diseases are storage disorders such as Fabry disease and Pompe disease. The primary neurological disease Friedreich’s ataxia can in addition induce an infiltrative cardiomyopathy. This chapter focuses on the pathophysiology, the symptoms, the typical image findings, and the potential treatment of these different rare genetic infiltrative diseases.

scholarly journals Lessons Learned from Pompe Disease Newborn Screening and Follow-up

2020 ◽  
Vol 6 (1) ◽  
pp. 11
Author(s):  
Tracy L. Klug ◽  
Lori B. Swartz ◽  
Jon Washburn ◽  
Candice Brannen ◽  
Jami L. Kiesling
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Human Services ◽  
Lessons Learned ◽  
Lysosomal Storage ◽  
Health And Human Services ◽  
Disease Phenotypes ◽  
Department Of Health ◽  
The World

In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services. Newborn screening for Pompe has been implemented in 20 states and several countries across the world. The rates of later-onset disease phenotypes for Pompe and pseudodeficiency alleles are higher than initially anticipated, and these factors must be considered during Pompe disease newborn screening. This report presents an overview of six years of data from the Missouri State Public Health Laboratory for Pompe disease newborn screening and follow-up.

Enzymatic replacement therapy in patients with late-onset Pompe disease – 6-Year follow up

2018 ◽  
Vol 52 (4) ◽  
pp. 465-469 ◽  
Author(s):  
Grzegorz Witkowski ◽  
Magdalena Konopko ◽  
Rafał Rola ◽  
Agnieszka Ługowska ◽  
Danuta Ryglewicz ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzymatic Replacement Therapy

scholarly journals Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

2020 ◽  
Vol 267 (10) ◽  
pp. 3038-3053
Author(s):  
David W. Stockton ◽  
Priya Kishnani ◽  
Ans van der Ploeg ◽  
Juan Llerena ◽  
Matthias Boentert ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Enzyme Replacement Therapy ◽  
Symptom Onset ◽  
Pompe Disease ◽  
Respiratory Function ◽  
Late Onset ◽  
Longitudinal Course ◽  
Enzyme Replacement ◽  
Alglucosidase Alfa

Abstract Objective To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with alglucosidase alfa by assessing the longitudinal course of forced vital capacity (FVC), prognostic factors for FVC, and impact of time from diagnosis to ERT initiation. Methods Longitudinal FVC data from LOPD (symptom onset > 12 months or ≤ 12 months without cardiomyopathy) patients were analyzed. Patients had to have baseline FVC (percent predicted upright) assessments at ERT start and ≥ 2 valid post-baseline assessments. Longitudinal analyses used linear mixed-regression models. Results Among 396 eligible patients, median baseline FVC was 66.9% (range 9.3–126.0). FVC remained stable during the 5-year follow-up (slope = − 0.17%, p = 0.21). Baseline FVC was lower among various subgroups, including patients who were male; older at ERT initiation; had a longer duration from symptom onset to ERT initiation; and had more advanced disease at baseline (based on respiratory support use, inability to ambulate, ambulation device use). Age at symptom onset was not associated with baseline degree of respiratory dysfunction. Differences between subgroups observed at baseline remained during follow-up. Shorter time from diagnosis to ERT initiation was associated with higher FVC after 5 years in all patients and the above subgroups using a cut-off of 1.7 years. Conclusion FVC stability over 5 years suggests that respiratory function is preserved during long-term ERT in real-world settings. Early initiation of alglucosidase alfa was associated with preservation of FVC in LOPD patients with better respiratory function at the time of treatment initiation.

scholarly journals Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease

2015 ◽  
Vol 2 (s1) ◽  
pp. S70-S71
Author(s):  
R. Taurisano ◽  
A. D'Amico ◽  
G.S. Colafati ◽  
A. Pichiecchio ◽  
M. Catteruccia ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Variant Form ◽  
Long Term Follow Up
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