View clinical trials related to Mucopolysaccharidosis IV.
Filter by:The purpose of the first-in-human (FIH) study is to obtain safety, tolerability, and pharmacokinetic information on SAR442501 in a healthy adult volunteer population using an integrated single ascending dose (SAD)-multiple ascending dose (MAD) parallel cohort study design.
Establishment of human cellular disease models for Morquio disease for an individualized therapy development having the capacity to address both hepatic and neurologic forms of the disease
The present study seeks to interview women with Morquio A and Morquio B syndrome, to explore their concerns surrounding pregnancy and the impact of ERT on their perspectives, in comparison with the control group of Morquio B subjects for whom no ERT treatment exists. Interviews will be conducted by a health psychologist, in-person or over the telephone. Data will be analyzed using MAXQDA 12.0 software and Grounded Theory. Differences in thematic trends between Morquio A subjects, for whom treatment exists, and a control group of Morquio B subjects, for whom there is no treatment, will be compared.
The objectives of this program are: to characterize and describe the Mucopolysaccharidosis IV type A (MPS IVA) population as a whole, including the heterogeneity, progression, and natural history of MPS IVA; to evaluate the long-term effectiveness and safety of Vimizim®, including, but not limited to, the occurrence of serious hypersensitivity reactions, anaphylaxis, and changes in antibody status; to help the medical community with the development of recommendations for monitoring MPS IVA patients and reports on patient outcomes to optimize patient care; to collect data on other treatment paradigms, and evaluate the prevalences of their use and their effectiveness; to characterize the effects and safety of Vimizim treatment 5 years from enrollment in the Registry for patients under 5 years of age; to monitor pregnancy exposure, including maternal, neonatal, and infant outcomes; and to monitor patients who have completed the MOR-005 and MOR-007 clinical trials. These patients will be encouraged to enroll in the applicable Registry Substudy and will be monitored using the MOR-005 and MOR-007 assessment schedules, respectively.
Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal recessive genetic lysosomal storage disorder. Research thus far regarding Morquio, has primarily focused on the physical aspects of the various diseases. Less attention has been paid to the psychological toll of these diseases, whether they are direct symptoms or reactions to living with a chronic progressive disease. Prior to 2013, there was neither a cure nor treatment (other than palliative) for Morquio disease. In the latter half of 2013, ERT became available to the broader population of patients with Morquio A disease through BioMarin's Expanded Access Program. In a previous study, entitled "Psychological Concomitants of Morquio syndrome" the present investigator enrolled 20 adult subjects with Morquio into a pilot study to estimate a baseline incidence of psychological symptoms and overall quality of life. Subjects were all over the age of 18. Data from this study were published in 2015. The present study extends this research into psychological health with Morquio via a comparison of psychological issues and quality of life before and after treatment (i.e. ERT). As ERT does not cross the blood-brain barrier, it would be unlikely to improve organic psychological symptoms, but may improve any reactive psychological symptoms caused by living over time with this chronic progressive genetic disease. The present study thus seeks to follow adult patients with Morquio A disease as they begin ERT and track their psychological health every 6 months for a duration of 2 years. Adult patients with Morquio disease are invited to participate. Subjects will complete three different self-report questionnaires, the Achenbach System of Empirically Based Assessment (ASEBA) Adult Self-Report (ASR), the Short Form 36-item Health Questionnaire (SF-36), and the Brief Pain Inventory (BPI). Group aggregate data will be reported; individual questionnaire content and results will be held confidential, except as in accordance with Georgia law relating to reporting of child or elder abuse, suicidal and/or homicidal intent.
The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative urine screening. We will recruit participants who have certain hip and/or joint problems that could potentially be caused by one of these two genetic conditions through a chart review process conducted at Shriners Hospital for Children in Greenville, SC. Diagnostic testing will be performed for each participant to determine if he or she is affected by one of these two conditions. Results will be disclosed to all participants and their legal guardians, and appropriate follow up will be recommended for those who are found to have abnormal results.
The purpose of this study is to learn about gait (walking) characteristics in MPS IVA and possible changes in gait with enzyme replacement therapy.
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential neurobehavioral outcomes; 2) develop sensitive measures of disease progression and central nervous system (CNS) treatment outcome; and 3) help clinical researchers develop direct treatments for specific brain structures/functions. The investigators hypothesize that specific and localized neuroimaging and neuropsychological findings and their relationship will be distinct for each MPS disorder. It is further hypothesized that without treatment, functions will decline and structure will change over time in a predictable fashion, and will be related to locus of abnormality and stage of disease.
Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal recessive genetic lysosomal storage disorder. Research thus far regarding lysosomal storage diseases (LSDs) in general, including Morquio, has primarily focused on exploring the causes of and finding a treatment for the physical aspects of the various diseases. Less attention has been paid to the psychological or emotional toll of these diseases, whether they are direct symptoms of the diseases themselves or reactions to living with a chronic progressive disease. It is well established in the health psychology literature, however, that the interaction between our physical health and our psychological health is bidirectional; that is, just as our physical health affects us emotionally (e.g. chronic pain can contribute to depression), so can our psychological health affect us physically (e.g. anxiety can contribute to feelings of chest pain). It is thus critically important to pay attention to the emotional and psychological symptoms associated with all lysosomal storage diseases, including Morquio, and expand our treatment standard of care to include mental health treatment, if necessary. The first step in understanding and treating psychological conditions in Morquio disease is determining the natural occurrence of psychological symptoms in this population in comparison with non-medical populations. As little has been done in this regard, a pilot study documenting the occurrence rate of psychological issues and overall quality of life in patients with Morquio is the first item in order and will be the focus of this study. Approximately 20 patients with Morquio disease will be invited to participate, recruited through Emory's Lysosomal Storage Disease Center, as well as through attendance at Morquio support groups and relevant regional, national and/or international meetings. Once consented, patients will be asked to complete three different self-report questionnaires, including the Achenbach System of Empirically Based Assessment (ASEBA) Adult Self-Report (ASR) or Older Adult Self-Report (OASR) questionnaire, the Short Form 36-item Health Questionnaire (SF-36), and the Brief Pain Inventory (BPI). Group aggregate data only will be reported; individual questionnaire content and results will be held confidential, except as in accordance with Georgia law relating to reporting of child or elder abuse, suicidal and/or homicidal intent. Completion of these questionnaires will complete subjects' participation in this pilot study.
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency. Investigators propose to identify patients retrospectively and prospectively who carry a diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients, investigators will perform enzyme testing on a blood sample which will identify MPS VI or IVA. Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with medical management. Therefore, it is important to determine effective diagnostic methods. Investigators believe that bilateral hip involvement should alert the clinician to the possibility of MPS VI and further examination. The purpose of this study is to test the hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS studies.