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Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
Patients affected by Pompe disease (glycogen storage disease type II) classically present either as the ‘floppy neonate’ with skeletal myopathy and severe hypertrophic cardiomyopathy (Fig. 14.29) or as the adult with a slowly, but relentlessly, progressive myopathy with no cardiac disease. The infantile presentation may include failure to thrive, symptoms of heart failure, and respiratory distress and increasingly hearing and visual defects are being recognised. The natural history of the early presentation is death in the first year of life. The adult or late onset form typically presents with a history of gross motor dysfunction such as weakness going up stairs and climbing or exercise intolerance. The condition progresses to the point whereby the patient is wheel chair and later ventilator dependent. This tends to occur over a decade or two. There is also a less common juvenile presentation of progressive skeletal myopathy.
Biocatalytic Nanoreactors for Medical Purposes
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
Oscar González-Davis, Chauhan Kanchan, Rafael Vazquez-Duhalt
Pompe disease also called glycogen storage disease type II (GSD II), is an autosomal recessively inherited disease caused by a deficiency of acid α-glucosidase (GAA). Pompe disease patients present hypotonia, feeding problems, hepatosplenomegaly, and cardiomyopathy in early infancy. These patients show progressive weakness due to deposition of glycogen from skeletal muscle (Kishnani and Beckemeyer, 2014) and ERT is the only established drug therapy targeting this enzyme deficiency (Reuser et al., 2002). Recombinant human acid α-glucosidase is administered as an intravenous infusion twice a week. An important factor that can limit the bioavailability of recombinant enzyme is the development of anti-GAA neutralizing antibodies that occur after the start of the enzyme replacement treatment. In the case of infantile Pompe disease, the probability of developing high titers of anti-GAA antibodies is dependent of the cross-reactive immunologic material (Tarnopolsky et al., 2016).
What’s new and what’s next for gene therapy in Pompe disease?
Published in Expert Opinion on Biological Therapy, 2022
Angela L. Roger, Ronit Sethi, Meredith L. Huston, Evelyn Scarrow, Joy Bao-Dai, Elias Lai, Debolina D. Biswas, Léa El Haddad, Laura M. Strickland, Priya S. Kishnani, Mai K. ElMallah
Pompe disease, also known as glycogen storage disease type II (GSDII) is an autosomal recessive disorder caused by a deficiency of acid-α-glucosidase (GAA) – an enzyme responsible for hydrolyzing lysosomal glycogen[1,2]. GAA deficiency results in accumulation of glycogen in lysosomes of cardiac, skeletal, and smooth muscle cells, as well as the central nervous system[3–6]. Patients are classified as infantile-onset (IPD) or late-onset (LOPD), based on GAA mutation pathogenicity, residual enzymatic activity levels, age of symptom onset, and disease manifestation[4,7–9]. Patients with IPD have mutations that result in <1% of normal GAA enzyme activity and present with cardiomyopathy, cardiorespiratory insufficiency, or hypotonia[3]. IPD patients who are completely deficient of any GAA enzyme are considered cross-reactive immunologic material (CRIM) negative[8]. In contrast, patients with any GAA protein produced are classified as CRIM-positive. Patients with LOPD can present as early as the first year of life to as late as the sixth decade. Patients with LOPD typically maintain 1–40% of normal GAA activity and have no cardiomyopathy in the first year of life[8]. The combination of over 600 known mutations results in significant variability in GAA activity, age of onset, and disease progression, particularly in LOPD patients[10,11]. Respiratory insufficiency and limb muscle weakness are the most common symptoms in all patients with Pompe[12,13].
Current state of developing advanced therapies for rare diseases in the European Union
Published in Expert Opinion on Orphan Drugs, 2020
Tingting Qiu, Yitong Wang, Monique Dabbous, Eve Hanna, Ru Han, Shuyao Liang, Mondher Toumi
Seventy-three (26.64%) ATMPs were indicated for diseases currently having no authorized treatment available, while patients were only treated with surgery, or other supportive strategies. Thirty-three (12.04%) ATMPs were indicated for diseases having authorized, but not satisfactory treatments available, such as in the case where treatments only targeted a narrow patient group. Twenty-three (8.39%) ATMPs were indicated for diseases only having symptom-relieving treatments available. Thirty-one (11.31%) ATMPs were indicated for diseases with replacement treatments available, such as plasma factor for hemophilia, and alglucosidase alfa for glycogen storage disease type II.
Cardiopulmonary exercise testing in neuromuscular disease: a systematic review
Published in Expert Review of Cardiovascular Therapy, 2021
Gabriela Barroso de Queiroz Davoli, Bart Bartels, Ana Claudia Mattiello-Sverzut, Tim Takken
The noninvasive feature of CPET and its usefulness lead to an increased interest in using it to assess exercise limiting factors and the efficacy of interventions in patients with NMDs. For example, Rapin et al. [8] were able to identify peripheral factors as the main limitation to exercise in adults with muscular dystrophies, metabolic myopathies, and hereditary peripheral neuropathies. Crescimanno et al. [9] observed a slight increase in the aerobic fitness of patients with glycogen storage disease type II in 36 months of enzyme replacement therapy, and Wiesinger et al. [10] prescribed and assessed the efficacy of a six-week aerobic training for adults with inflammatory myopathy.