This trial is evaluating whether avalglucosidase alfa GZ402666 will improve 2 primary outcomes and 35 secondary outcomes in patients with Glycogen Storage Disease Type II;Pompe's Disease. Measurement will happen over the course of From Baseline to Week 25.
This trial requires 22 total participants across 6 different treatment groups
This trial involves 6 different treatments. Avalglucosidase Alfa GZ402666 is the primary treatment being studied. Participants will be divided into 5 treatment groups. There is no placebo group. The treatments being tested are in Phase 2 and have already been tested with other people.
"Acid maltase deficiency should be suspected in patients with the following clinical presentation: failure to thrive, lactic acidosis, failure to thrive without acid maltase deficiency, failure to thrive with lactic acidosis and/or acid maltase deficiency, or neonatal presentation with acid maltase deficiency. A deficiency of acid maltase can cause severe brain and/or liver damage, and even death." - Anonymous Online Contributor
"We conclude that AAD is a monogenic disorder and hence, curable. Patients with this disorder in whom AAD is the probable diagnosis, although the clinical phenotype often appears to be mild or atypical, may not realize the seriousness of the disorder so should be assessed for AAD." - Anonymous Online Contributor
"The disorder is characterized by hyperammonemia resulting from deficient enzymatic degradation of the intestinal brush border membrane-bound enzyme maltase. Hyperammonemia is treated with oral valproic acid. Although symptomatic valproic acid therapy is widely used for acid maltase deficiency, anecdotal reports exist of the use of parenteral valproic acid for this condition." - Anonymous Online Contributor
"The precise cause of the disorder is now recognized to be most frequently caused by the loss of the acidic α-amylase enzyme and is only a small part of the complex mechanism of this disease. We recommend that the disorder be included in the clinical and laboratory definition of the group of malabsorption disorders. summary: This article discusses acid maltase deficiency. A more general discussion of this disorder can be found on the Disorders of Lipid Metabolism website." - Anonymous Online Contributor
"Symptoms in a patient with AAD can generally be divided into one of three groups; digestive, neuromuscular, or other signs. The severity of the symptoms vary depending on the severity of the deficiency.\n" - Anonymous Online Contributor
"There are about 100,000 people in the United States who suffer ACD, with 10 to 90% being children. There is a need to better diagnose this disease and to educate the public that ACD constitutes a public health problem." - Anonymous Online Contributor
"At one moment in time, some individuals are affected by the disorder and those who are affected may not be aware they are affected by this disease. However, the average age of individuals can be ascertained by combining current prevalence of the condition with the age of the first diagnosis of the condition. For the average age of diagnosis of acid maltase deficiency to be determined, one needs to use two separate sources. These sources are the reported first date of diagnosis of the disease and the prevalence of the disorder. The age at which a person is first diagnosed with the disorder has an expected value because it is possible for multiple individuals to be diagnosed with the disorder at different times, it is also possible for a number of family members to have the disorder." - Anonymous Online Contributor
"For patients with a GLA mutation in the HEXA gene, treatment with gz402666 has significantly improved overall quality of life and was well-tolerated. In addition, treatment with gz402666 has been found to be particularly beneficial for improvement in upper respiratory symptoms for HEXA-mutation carriers." - Anonymous Online Contributor
"There have been no significant side effects reported following the initiation of treatment with AGL or its combination with a gluten-free diet. Data from a recent study have led to the conclusion that AGL and gluten-free diet are safe and effective treatments which may facilitate the normalization of clinical, biological, and histological features of GAI." - Anonymous Online Contributor
"The following are current and new treatments, along with their mechanism of action, efficacy, and adverse events:\n\n- Oral alginate\n- Intradermal injections of somatostatin\n- Intradermal injections of calcitonin/eelcalcitonin\n- Intradermal injections of somatostatin receptor agonists\nIt may be hard to find a treatment that has a cure in the short term for people with AMD. Treatment is generally long-term, and many people have been diagnosed only in adulthood." - Anonymous Online Contributor
"No clinical trials involving avalglucosidase alfa for Pompe disease have been reported in the literature up to February 2010. Our search for Pompe disease gene treatment trials on ClinicalTrials.gov for the past 36 months will continue for the foreseeable future and was limited by publication date. The search will additionally search for placebo-controlled, randomized trials on which some Pompe disease experts are experts." - Anonymous Online Contributor
"Results from a recent paper showed gz402666 to be safe, well tolerated and acceptable for people with NIP and MPS type I. This is the first large-scale, placebo-controlled, randomised, double-blind, placebo-controlled trial of gz402666 in patients with MPS I. Results from a recent paper demonstrate the ability of gz402666 to slow disease progression." - Anonymous Online Contributor