Date: 2015-08-05
Type of information: Treatment of the first patient
phase: 2
Announcement: treatment of the first patient
Company: Ultragenyx Pharmaceutical (USA - CA)
Product: recombinant human beta-glucuronidase (rhGUS, UX003)
Action
mechanism: enzyme replacement therapy. Mucopolysaccharidosis 7 is caused by a deficiency of the lysosomal enzyme beta-glucuronidase, which is required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). The inability to break down GAGs leads to their accumulation in many tissues, resulting in serious disease. Patients with MPS 7 may have abnormal coarsened facial features, enlargement of the liver and spleen, airway obstruction, lung disease, cardiovascular complications, joint stiffness, short stature, and skeletal disease. Glucuronidase (GUS) is an enzyme found in the lysosome that when taken up into cells efficiently by a particular receptor results in the delivery of the GUS enzyme into the lysosomes and clearance of stored GAGs. Preclinical studies of the chronic administration of rhGUS results in a reduction of tissue pathology in the liver, spleen, lung, heart, kidney, muscle, bone and brain.
Disease: mucopolysaccharidosis 7 (MPS 7, Sly syndrome)
Therapeutic area: Rare diseases - Genetic diseases - Metabolic diseases
Country: USA
Trial
details: UX003-CL203 is an open-label, multi-center, Phase 2 study to assess the safety and efficacy of UX003 in pediatric MPS 7 subjects.(NCT02418455)
Latest
news: * On August 5, 2015, Ultragenyx Pharmaceutical, a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, announced the dosing of the first patient in a Phase 2 study of investigational recombinant human beta-glucuronidase (rhGUS, UX003) in patients under five years old with mucopolysaccharidosis 7 (MPS 7, Sly syndrome), potentially including patients with non-immune hydrops fetalis, a severe infantile presentation of the disease. The Phase 2 open-label, multi-center clinical study will assess the safety, tolerability, and efficacy of rhGUS in up to seven pediatric patients under five years old. Patients will receive 4 mg/kg of rhGUS treatment every other week for 48 weeks, followed by a long-term continuation period. The primary efficacy endpoint is the reduction in urinary GAG excretion. Additional efficacy measures include growth velocity, hepatosplenomegaly, functional development, and cardiac and pulmonary function. Interim data from the study are expected by the end of 2016. This study is also intended to enroll patients with non-immune hydrops fetalis, a phenotype of MPS 7 in which patients are born with severe edema and often die within a few months to one year. Ultragenyx is currently treating one MPS 7 patient born with hydrops fetalis under compassionate use. Ultragenyx is also conducting a Phase 3 study of rhGUS in older MPS 7 patients. The Phase 3 study completed enrollment in June 2015 and data are expected in mid-2016.
