mucopolysaccharidosis I

Search with Google Search with Bing
Information
Disease name
mucopolysaccharidosis I
Disease ID
DOID:12802
Description
"A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase." [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04628871 Active, not recruiting Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX November 3, 2020 January 1, 2030
NCT04453085 Active, not recruiting Phase 1/Phase 2 An Extension Study of JR-171-101 Study in Patients With MPS I October 28, 2021 April 30, 2025
NCT03153319 Active, not recruiting Phase 1/Phase 2 Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI June 5, 2017 June 2026
NCT00146757 Completed Phase 2 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old October 2002 May 2005
NCT00146770 Completed Phase 3 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients May 2001 March 2005
NCT00176891 Completed Phase 2 Stem Cell Transplant w/Laronidase for Hurler March 2004 November 2012
NCT00176917 Completed Phase 2 Stem Cell Transplantation for Hurler May 1999 May 2010
NCT05134571 Completed Phase 4 China Post-marketing Surveillance (PMS) Study of Aldurazyme® October 28, 2021 July 26, 2023
NCT00258011 Completed Phase 3 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease December 2005 October 2006
NCT00741338 Completed Phase 1/Phase 2 Immune Tolerance Study With Aldurazyme® (Laronidase) September 2008 September 2012
NCT04227600 Completed Phase 1/Phase 2 A Study of JR-171 in Patients With Mucopolysaccharidosis I September 1, 2020 August 2, 2022
NCT00852358 Completed N/A A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I June 2009 April 2015
NCT00912925 Completed Phase 3 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I December 2000 September 2001
NCT01586455 Completed Phase 1 Human Placental-Derived Stem Cell Transplantation April 2013 September 2022
NCT03071341 Completed Phase 1/Phase 2 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I October 2016 February 1, 2018
NCT03053089 Completed Phase 1/Phase 2 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I October 2015 February 1, 2018
NCT02597114 Completed Phase 1 Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 November 2015 August 2, 2018
NCT02371226 Completed Phase 1 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I July 2015 February 1, 2017
NCT00144768 Completed Phase 4 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients July 2004 May 2007
NCT00144781 Completed Phase 4 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease December 2004 January 2006
NCT06103487 Enrolling by invitation Long Term Follow-Up for RGX-111 July 24, 2023 September 2027
NCT00695279 Recruiting Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products January 4, 2007 December 2036
NCT05619900 Recruiting Registry of Patients Diagnosed With Lysosomal Storage Diseases May 31, 2022 May 31, 2050
NCT05687474 Recruiting Baby Detect : Genomic Newborn Screening September 1, 2022 August 31, 2025
NCT06036693 Recruiting MPS (RaDiCo Cohort) (RaDiCo-MPS) December 20, 2017 December 20, 2024
NCT00418821 Terminated Phase 4 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants October 22, 2010 December 21, 2022
NCT00215527 Terminated Phase 1 Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I November 2005 October 2011
NCT02232477 Terminated N/A Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I August 2014 February 2020
NCT01675674 Terminated Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics September 2011 March 2014
NCT00786968 Terminated Phase 1 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I January 2008 October 2011
NCT00748969 Terminated Phase 2/Phase 3 Clinical Trial of Growth Hormone in MPS I, II, and VI November 2008 September 2013
NCT00005900 Unknown status Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation August 1999
Disase is a (Disease Ontology)
DOID:12798
Cross Reference ID (Disease Ontology)
GARD:10335
Cross Reference ID (Disease Ontology)
ICD10CM:E76.0
Cross Reference ID (Disease Ontology)
MESH:D008059
Cross Reference ID (Disease Ontology)
NCI:C85053
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:267453008
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0023786
Exact Synonym (Disease Ontology)
Hurler syndrome
Exact Synonym (Disease Ontology)
Hurler-Scheie syndrome
Exact Synonym (Disease Ontology)
iduronidase deficiency disease
Exact Synonym (Disease Ontology)
Lipochondrodystrophy
Exact Synonym (Disease Ontology)
MPS I - Hurler syndrome
Exact Synonym (Disease Ontology)
Mucopolysaccharidosis, MPS-I
Exact Synonym (Disease Ontology)
Mucopolysaccharidosis, type 1
MeSH unique ID (MeSH (Medical Subject Headings))
D008059