*  Dermatopathology Cases: Answer of Dermatopathology Case 89
We divide the cutaneous mucinoses into two groups: the distinctive cutaneous mucinoses in which the mucin deposit is a ... dysthyroidotic mucinoses (i.e. localized myxedema, generalized myxedema, papular mucinoses associated with thyroid diseases), ... The cutaneous mucinoses are a heterogeneous group of diseases in which mucin accumulates in the skin or within the hair ... They may be divided, according to the microscopic location of mucin, into dermal and follicular mucinoses. The former group ...
  http://dermatopathologycases.blogspot.com/2011/02/answer-of-dermatopathology-case-89.html
*  User:Djd/sandbox/MedNav/Pathology templates - Wikipedia
Mucinoses}}. Medicine. Mucinosis/Lichen myxedematosus (L98.5, 701.8). Integumentary disease and disorder templates. Footer. ...
  https://en.wikipedia.org/wiki/User:Djd/sandbox/MedNav/Pathology_templates
*  ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases -...
Subjects will be hospitalized and undergo high doses of chemotherapy which will destroy the child's normal cells including their bone marrow (which forms blood cells) in order to prepare their body for the umbilical cord blood transplant. The cord blood transplant is intended to rescue your child's bone marrow from the bad effects of the procedure. The child will receive 80% of a standard cord blood transplant followed by 20% supplemental stem cell called ALD-101.. The study will evaluate if these cells (ALD-101) will repopulate the bone marrow more rapidly after transplant. This would shorten the period of time that the transplanted subject would be at risk for infection and bleeding and would also decrease the number of red blood cell and platelet transfusions needed.. ALD-101 has been used as a supplement to cord blood transplant in twenty-eight children with genetic diseases and malignancy in one previous clinical study that is on-going.. The main purpose of this research study is to test ...
  https://clinicaltrials.gov/ct2/show/NCT00654433?cond=%22mucopolysaccharidosis+type+III%22&rank=10
*  Study of Aldurazyme┬« Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease - Full Text View -...
This is a multi-center, open label, study conducted to evaluate the safety of laronidase administered by intravenous drip infusion in Japanese patients with MPS I disease.. Following baseline evaluation, patients will receive weekly infusions of JC0498 at an intravenous dose of 100 units/kg. Patient safety will be monitored continuously throughout the trial. In addition, the effects of JC0498 treatment in this patient population will be assessed by periodically evaluating aspects of MPS I disease in patients at scheduled intervals over the duration of the trial.. Since patients may be eligible for the trial if they have received JC0498, a portion of the data may be captured retrospectively and recorded onto the case report forms (CRFs).. This study represents the first good clinical practice (GCP) effort to characterize MPS I in the Japanese population and evaluate the effects of JC0498 on disease manifestations. ...
  https://clinicaltrials.gov/show/NCT00258011
*  Study of BMN 110 in Pediatric Patients | 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) - Full Text View -...
This open-label Phase 2 study will evaluate the safety and efficacy of weekly 2.0 mg/kg/wk infusions of BMN 110 in pediatric patients, less than 5 years of age at the time of administration of the first dose of study drug, diagnosed with MPS IVA (Morquio A Syndrome) for up to 208 weeks ...
  https://clinicaltrials.gov/ct2/show/NCT01515956
*  A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I - Full Text View - ClinicalTrials.gov
This study is a 24-month open label, prospective, randomized trial in 16 MPS I patients age six years or older who have documented evidence of cognitive decline. The study will test the safety and efficacy of intrathecal recombinant human alpha-L iduronidase (rhIDU) to reduce or stabilize cognitive decline by assessing the subjects at baseline with neuropsychological, clinical, radiological, and biochemical evaluations and then monitoring the change in these parameters during a regimen of first monthly, then quarterly, intrathecal treatments with rhIDU. The clinical safety of the regimen will be assessed by monitoring of adverse events, cerebrospinal fluid (CSF) laboratory assessments, and clinical evaluations.. Subjects will be randomized to a treatment or a control group for 12 months, following which all subjects will receive 12 months of active treatment. During the first 12 months, the control group will receive similar study assessments but will be unblinded with no placebo administered. ...
  https://clinicaltrials.gov/ct2/show/NCT00852358?cond=%22Mucopolysaccharidosis+type+I%22&rank=9
*  An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase ...
During the initial 14-week treatment period of the study, participants receive 2 mg/kg UX003 every other week (QOW) for 12 weeks. At Week 14, participants continue on UX003 therapy and begin a forced dose titration period for an additional 24 weeks at the dose sequence of 1, 4, and 2 mg/kg UX003 QOW as follows: 1 mg/kg UX003 for 8 weeks beginning on Week 14; then 4 mg/kg UX003 for 8 weeks beginning on Week 22; then 2 mg/kg UX003 for 8 weeks beginning on Week 30. Following the 24 week forced dose titration period, participants who continue on treatment (continuation period) received 2 mg/kg UX003 QOW beginning at Week 38 for up to an additional 36 weeks.. After the first phase of the study, participants who elect to continue drug treatment are transitioned to the long-term extension phase, where they are treated with UX003 at 4 mg/kg beginning at Week 74, for up to an additional 168 weeks. ...
  https://clinicaltrials.gov/ct2/show/NCT01856218?cond=%22mucopolysaccharidosis+type+VII%22&rank=1
*  Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) - Full...
Sanfilippo syndrome, or Mucopolysaccharidosis (MPS) III, is a rare lysosomal storage disease (LSD) caused by loss in activity of 1 of 9 enzymes necessary for degradation of the glycosaminoglycan (GAG) heparan sulfate (HS) in lysosomes. MPS IIIA results from deficiency of the enzyme heparan N-sulfatase (sulfamidase). In the absence of this enzyme, intermediates of the HS degradation process accumulate in the lysosomes of neurons and glial cells, with lesser accumulation outside the brain. MPS IIIA symptoms arise on average at 7 months of age, with the average age of diagnosis at 4.5 years for the majority of patients. Patients present a wide spectrum and severity of clinical symptoms. The central nervous system (CNS) is the most severely affected organ system in patients with MPS IIIA, evidenced by deficits in language development, motor skills, and intellectual development. In addition, there are abnormal behaviors including but not limited to aggression and excess motor activity/hyperactivity ...
  https://clinicaltrials.gov/ct2/show/NCT01299727?cond=%22mucopolysaccharidosis+type+III%22&rank=3
*  A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome...
This multicenter, open-label extension study is designed to assess long-term efficacy and safety of 2.0 milligrams (mg)/kilogram(kg)/week of BMN 110 in patients diagnosed with Mucopolysaccharidosis IVA (MPS IVA). Patients with MPS IVA, who enrolled in a prior BioMarin sponsored clinical study of BMN 110 (NCT00884949; Study Identification Number MOR-002), were eligible to enroll in this study (except patients who enrolled in NCT01275066; Study Identification Number MOR-004 ...
  https://clinicaltrials.gov/ct2/show/NCT01242111
*  Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB - Full Text View - ClinicalTrials.gov
Adeno-associated virus serotype 9 carrying the human NAGLU gene under the control of a CMV enhancer/promoter (rAAV9.CMV.hNAGLU) will be delivered one-time through a venous catheter inserted into a peripheral limb vein. The vector will be delivered undiluted over 10 to 20 minutes, under light to moderate sedation as needed. Dosing volume will be approximately 2-5 mL/kg, depending on final vector product concentration and subject cohort. A tapering course of prophylactic enteral prednisolone will be administered ...
  https://clinicaltrials.gov/ct2/show/NCT03315182?term=NCT03315182&rank=1
*  Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) - Full Text View - ClinicalTrials.gov
The objectives of this program are: to further characterize the natural progression of MPS VI disease; to generate and disseminate information on the care and management of MPS VI patients to clinical and medical professionals; to provide a resource to physicians and patients by providing information for optimizing patient care based on aggregate data; to characterize the clinical response to long-term Naglazyme® (galsulfase) treatment; to further characterize the long-term safety of Naglazyme® treatment ...
  https://clinicaltrials.gov/ct2/show/study/NCT00214773
*  A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A...
This Phase 3 study will evaluate the efficacy and safety of 2.0 mg/kg/week BMN 110 and 2.0 mg/kg/every other week BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A Syndrome).. There is currently no standard accepted treatment for MPS IVA other than supportive care. Enzyme replacement therapy (ERT) may be a potential new treatment option for MPS IVA patients. BMN 110 is administered to MPS IVA patients by IV infusion, allowing cellular uptake by the mannose-6-phosphate receptor and transportation to the lysosomes.. This enzyme uptake into the lysosomes is hypothesized to promote increased catabolism of keratan sulfate (KS) in tissue macrophages, hyaline cartilage, other connective tissues, and heart valve, and reduce the progressive accumulation of KS which is responsible for the clinical manifestations of the disorders. ...
  https://clinicaltrials.gov/ct2/show/NCT01275066?term=mucopolysaccharidosis&rank=38&sel_rss=new14
*  Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI - Full Text View - ClinicalTrials...
Approximately 85% of individuals with Mucopolysaccharidosis (MPS) type I, II, or VI report weekly pain and 50-60% have significant limitations in their activities of daily living due to MPS related musculoskeletal disease despite treatment with enzyme replacement therapy (ERT). Thus there is a critical need to identify additional therapies to alleviate the burden of musculoskeletal disease in order to improve the health and quality of life of individuals with MPS. However, disease progression needs to be quantified to be able to determine efficacy of new therapies. This study is a multi-institutional, 5-year, longitudinal study of musculoskeletal disease in MPS. The objective is to quantitatively describe the progression of skeletal disease and identify biomarkers that either predict disease severity or could be used as therapeutic targets in individuals with MPS I, II, and VI. A database of standardized measurements of musculoskeletal disease in MPS will allow the field to efficiently move ...
  https://clinicaltrials.gov/ct2/show/NCT01521429?term=Mucopolysaccharidoses&rank=18
*  Pretibial myxedema - Wikipedia
ISBN 978-0729540759; pbk Rongioletti F, Rebora A (2007). "Mucinoses". In Bolognia JL. Dermatology. St. Louis: Mosby. pp. 616-7 ...
  https://en.wikipedia.org/wiki/Pretibial_myxedema
*  Lichen myxedematosus - Wikipedia
Lichen myxedematosus is a group of cutaneous disorders considered mucinoses. Conditions included in this group are: Generalized ...
  https://en.wikipedia.org/wiki/Lichen_myxedematosus