View clinical trials related to Mucopolysaccharidoses.
Filter by:The purpose of this phase III study is to assess the efficacy and safety of P046 produced by CinnaGen Company compared to Aldurazyme® in mucopolysaccharidosis type I (MPS I) patients. All patients receive Aldurazyme® for 12 weeks, followed by P046 for another 12 weeks. The primary outcome is the assessment of the maintenance of the mean uGAG levels at the end of each medication administration. The secondary outcomes are the assessment of 6-minute walking test (6MWT), predicted forced vital capacity (FVC), enzyme activity assay, and adverse events (AEs).
The Mucopolysaccharidoses (MPS) are a family of genetic metabolic disorders, caused by specific enzyme deficiencies which result in accumulation of partially degraded glycosaminoglycans (GAGs) within various tissues. As GAGs are common in the body a number of different organ systems can be affected. Involvement of the upper and lower respiratory tract in MPS Type II results in significant airway compromise, with progressive airway obstruction being responsible for a significant proportion of the morbidity and mortality associated with this condition. Hearing loss is a universal finding in MPS, with a third of patients suffering with severe profound hearing loss. There is an unmet need for strong clinical evidence to guide treatment of head, neck and respiratory disease in MPS disorders. A Core Outcome Set (COS) describes the minimum outcome data that should be measured in a clinical study for a particular condition. The lack of an agreed COS for MPS II in general, and specifically head, neck and respiratory disease, makes comparison between studies difficult. There is also a lack of information detailing patient and parent perspectives on the MPS disorders. The ideal COS for head, neck and respiratory disease associated with MPS II would combine both patient/parent and clinician opinion and could be used in the design of all subsequent clinical studies. Following literature review the investigators have created a list of outcomes previously reported for qualitative and quantitative studies investigating head, neck and respiratory disease in MPS II. For the proposed research the investigators will seek opinions of patients, parents, clinicians and scientists to rate these outcomes via the Delphi method. Outcomes scored highest by patients, parents, clinicians and scientists will form a COS for head, neck and respiratory disease in MPS II. The development of a COS can help limit variability outcomes in studies investigating different interventions in MPS II.
The main aims of the study are to learn about the percentage of mucopolysaccharidosis type II (MPS II) in adults in Brazil as well as about the diagnosis process. No study medicines will be provided to participants in this study. The data available for participants diagnosed with MPS II in DATASUS (a database of the Informatics Department of Brazilian Health System) will be reviewed. No clinic visits will be required as part of participation in this study.
This is a single treatment arm study that is open-label to be conducted in Chinese participants with MPS I. Trial Objectives are to evaluate the safety and tolerability of Aldurazyme in Chinese MPS I participants, and to evaluate the efficacy of Aldurazyme on the percent change of urinary glycosaminoglycans (uGAGs) from baseline to Week 26. The study will also evaluate the effect on uGAG level and liver volume (hepatomegaly) after 26 weeks, with Aldurazyme treatment in Chinese MPS I participants. Treatment duration will include: 2 weeks of screening, 26 weeks of treatment and 1 week of follow-up period. During the treatment period, weekly visits are designed to accommodate weekly administration of Aldurazyme (laronidase).
Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting. Secondary objectives: - To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting. - To evaluate the infusion compliance in both cohorts of patients treated in a home-care infusion setting.
Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities, restricted joint function and ROM (range of motion), rib cage abnormalities, short stature and hip dysplasia as well as flexion contracture in the knee and interphalangeal joints and joint laxity. Currently, there is no treatment that cures the symptoms of MPS. However, there are some forms of treatment that can delay the progression of the disease. Enzyme replacement therapy is one such treatment and used for the management of some subtypes of MPS disease. Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues. Very few studies in the literature have examined the impact of MPS in the lives of children affected by this disease. Studies investigating functional capacity, independence and quality of life in children receiving or not receiving enzyme replacement therapy have not provided a clear picture of the problems faced by these children. Secondly, psychological problems experienced by caregivers of children with MPS have not been studied specifically in former studies. Therefore, the aim of this study was to examine the impact of ERT on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers.
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
Respiratory system affects in mucopolysaccharidosis (MPS) disease. Respiratory system symptoms are seen in almost every MPS patients and respiratory failure is one of the most common causes of death in this population. The aim of the study was to evaluate respiratory muscle strength and endurance, cough effectiveness and functional capacity in MPS patients and to defined the factors that affected the respiratory problem in this.
Phase I/II, open-label, multicenter, multinational (Japan, Brazil and US),designed to evaluate the safety, pharmacokinetics and explore the efficacy for the treatment of mucopolysaccharidosis type I (MPS I).
Mucopolysaccharidosis (MPS) are a group of inherited, metabolic diseases caused by a deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs). Loss of their activity results in cellular accumulation of GAGs fragments leading to progressive multi-system manifestations, with respiratory impairment. The cellular and molecular mechanisms responsible for the pulmonary impairment remain largely unknown. Specific GAGs, such as those accumulating in MPS, may act as potent inhibitors of some respiratory enzymes, like lysosomal cathepsins, depending on the nature of GAGs and their concentration. It is well established that deregulation of cathepsins levels plays a major role in the pathophysiology of some chronic respiratory diseases, such as cystic fibrosis. The role of cathepsins and their inhibitors in respiratory samples of MPS patients has never been studied. This study will focus on the status/activity of these proteases and their endogenous inhibitors in the sputum or tracheal aspiration of patients with MPS. Our main hypothesis is that high levels of GAGs in MPS patients impair the physiological activity of cathepsins and their inhibitors.