"Sanfilippo syndrome" from_date:2012

Behavioural disorders and sleep problems in Sanfilippo syndrome: overlaps with some other conditions and importance indications. Sanfilippo syndrome (MPS III) is one of the types of mucopolysaccharidoses (MPS), a group of inherited metabolic diseases in which the accumulation of glycosaminoglycans (GAGs) results from deficiency of different lysosomal enzymes. The hallmarks of MPS III

Anakinra in Sanfilippo syndrome: a phase 1/2 trial. Sanfilippo syndrome is a fatal childhood neurodegenerative disorder involving neuroinflammation among multiple pathologies. We hypothesized that anakinra, a recombinant interleukin-1 receptor antagonist, could improve neurobehavioral and functional symptoms owing to its capacity to treat neuroinflammation. This phase 1/2 trial aimed to test . No serious adverse events were related to anakinra. In conclusion, anakinra was safe and associated with improved neurobehavioral and functional outcomes, supporting continued investigation of anakinra in Sanfilippo syndrome and other mucopolysaccharidoses. ClinicalTrials.gov identifier: NCT04018755 .

A case report of Sanfilippo syndrome - the long way to diagnosis. Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is characterized by early nonspecific neuropsychiatric symptoms, followed by progressive neurocognitive impairment

A phase 1/2 study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding for alfa-N-acetyl-glucosaminidase. Enzyme replacement therapy for neuronopathic MPS requires efficient

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A. Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a rare autosomal recessive lysosomal disorder characterized by deficient heparan-N-sulfatase (HNS) activity, and subsequent accumulation of heparan sulfate, especially in the central nervous system. The disease

High dose genistein in Sanfilippo syndrome: A randomised controlled trial. The aim of this study was to evaluate the efficacy of high dose genistein aglycone in Sanfilippo syndrome (mucopolysaccharidosis type III). High doses of genistein aglycone have been shown to correct neuropathology and hyperactive behaviour in mice, but efficacy in humans is uncertain. This was a single centre, double

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial. Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neurodegeneration in early childhood. We

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B. To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease. A prospective, multicenter study was conducted. Baseline, 6-month

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B) Homozygous or compound heterozygous mutation in the gene encoding -alpha-acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous variant in a child with features of Sanfilippo syndrome B.

Mortality in patients with Sanfilippo syndrome Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant accumulation of this substrate in bodily tissues causes various malfunctions of organs, ultimately leading to premature death. Eighty-four, 24 and 5 death certificates of patients with Sanfilippo syndrome types A, B and C, respectively, were obtained from the Society of Mucopolysaccharide Diseases (UK) to better understand the natural course of these conditions, covering the years 1977-2007. In Sanfilippo syndrome type A mean age at death (± standard deviation) was 15.22

Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice Sanfilippo syndrome, MPS IIIA-D, results from deficits in lysosomal enzymes that specifically degrade heparan sulfate, a sulfated glycosaminoglycan. The accumulation of heparan sulfate results in neurological symptoms, culminating in extensive neurodegeneration

Phase 1 Study of GC1130A in Pediatric Patients With Sanfilippo Syndrome Type A (MPS IIIA) The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase (rhHNS, GC1130A) administered via intracerebroventricular access device in pediatric patients with Sanfilippo Syndrome Type A (MPS IIIA).

Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) This is a multicenter, open-label, Phase 1/2 study to assess the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and exploratory clinical efficacy of DNL126 in participants with Sanfilippo syndrome Type A (MPS IIIA). The core study period is 25 weeks (approximately 6

Study of Cannabidiol in Sanfilippo Syndrome The goal of this clinical trial is to test cannabidiol in Sanfilippo syndrome. The main questions it aims to answer are: 1) determine the safety of cannabidiol in Sanfilippo syndrome, and 2) explore the efficacy of cannabidiol in treating the neurobehavioral symptoms and functional outcomes of Sanfilippo syndrome.Each participant's caregiver 1:1 (equal chance) to start treatment with Epidiolex (cannabidiol) or placebo for 16 weeks, followed by an 8-week washout period (no treatment). Participants then switch to the opposite treatment group for 16 weeks followed by all participants treated for 52 weeks with Epidiolex (cannabidiol). Sanfilippo syndrome, or Mucopolysaccharidosis type III (MPS III), is a rare genetic lysosomal storage

Sanfilippo syndrome: causes, consequences, and treatments Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) whose symptoms are caused by the deficiency of enzymes involved exclusively in heparan sulfate degradation. The primary characteristic of MPS III is the degeneration

A Natural History Study of Sanfilippo Syndrome Type D Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with Sanfilippo syndrome type D. The results from this study may inform future clinical studies in targeted therapies for patients with Sanfilippo syndrome type D and may serve as an external control since there are very few patients with Sanfilippo syndrome type D. This is a single-center, natural history study of subjects with Sanfilippo syndrome type D. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis from participants

Natural History Study of Participants With Sanfilippo Syndrome Type IIIC Sanfilippo syndrome type C is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with Sanfilippo syndrome type C. The results from this study may inform future clinical studies in targeted therapies for patients with Sanfilippo syndrome type C and may serve as an external control since there are very few patients with Sanfilippo syndrome type C. This is a single-center, natural history study of subjects with Sanfilippo syndrome type C. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis

Tachypnea of Infancy as the First Sign of Sanfilippo Syndrome. This report describes the first known case of Mucopolysaccharidosis type IIIA presenting with respiratory symptoms and characteristic lung pathology. This case highlights under-recognized areas of systemic involvement and earlier modes of presentation in lysosomal storage disorders as well as the importance of investigating infants

A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome) This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome). At least 10 participants (~50%) must be less than four years old at the time of the Parent/LAR consent. The study

* Imminent horizon * Our Networks * Our Stakeholders * Our Work with NICE * Health & Life Sciences Ecosystem * Engage * Industry * Public Involvement * Capacity Building * Events * News * Resources * Contact 31 October 2024 UX111 for treating mucopolysaccharidosis type IIIAUX111 is in clinical development for the treatment of mucopolysaccharidosis type IIIA (MPS IIIA). MPS, also known as Sanfilippo syndrome, is a rare genetic condition that causes fatal brain damage and is a type of childhood dementia. MPS III is caused by the lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called heparan sulphate. This heparan sulphate accumulates and causes damage to the cells of the body, particularly the brain and spinal cord. MPS IIIA is a subtype of MPS III which