Active clinical trials for "Mucopolysaccharidosis IV"

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.

This multicenter, multinational, longitudinal study will quantify endurance and respiratory function in subjects diagnosed with MPS IVA and will better characterize the spectrum of symptoms and biochemical abnormalities in MPS IVA disease over time.

The purpose of this study is to find out more about some of the unusual chemicals (called oligosaccharides) that can occur naturally as a result of processes in the body. Researchers want to look at how these chemicals change with time and how they change between different patients with MPSIVA. These unusual chemicals were recently discovered in the urine from patients with MPSIVA. The investigators would like to study these chemicals before a specific enzyme replacement therapy is used. If the investigators understand how these chemicals change, the investigators may be able to use them to monitor this condition in the near future as well as help doctors know whether certain therapies work well in their patients.

This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology clinics because the first symptoms of MPS are often joint problems such as stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits. The study will also evaluate the utility of dried blood spot testing for MPS.

Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase. Children with this disease accumulate a chemical called keratan sulphate, which stops their skeletons developing properly. They are very short in stature and many of their joints are unstable. Children with MPS IVa walk in a different way to other people due to a combination of lax ligaments and skeletal problems such as knock-knees. Human walking involves the coordinated movements of all four limbs. As we walk, the arms swing oppositely to the legs. This movement pattern is very different in children with MPS IVa. This change seems to involve the whole musculoskeletal system and depends on the severity of the disease. Recent studies in children with MPS IVa describing walking pattern have concentrated solely on the lower or upper limb respectively, and have not looked at the interaction of the upper and lower limbs during walking. To our knowledge, the mechanics of walking in children with MPS IVa has not been investigated using a dynamic gait analysis tool (using cameras, sensors and electrodes to track the movements of different parts of the body during walking) and we aim to characterise this in a small number of children with MPS IVa and also examine the effects of splinting the wrist upon the walking pattern to see if this simple intervention makes it easier or more difficult for children with MPS IVa to walk.

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.

The Expanded Access Program (EAP) is an open-label, multicenter program to: Provide patients who have been diagnosed with Mucopolysaccharidosis IVA (MPS IVA) access to BMN 110 until commercial product is available Collect additional information on the safety and tolerability of BMN 110 administration in patients with MPS IVA Patients enrolled in the EAP will receive 2.0 mg/kg intravenous infusions of BMN 110 every week during the program.

The purpose of this study is to learn about gait (walking) characteristics in MPS IVA and possible changes in gait with enzyme replacement therapy.

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 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.