Clinical trials: MPS I
Mucopolysaccharidosis, Hurler Syndrome
Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Rationale: Chemotherapy administration before a donor stem cell transplant is necessary to stop the patient's immune system from rejecting the donor's stem cells.
- Conditions
- Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome
- Trial name
- NCT01043640
- Testing
- Campath-1H, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Mucopolysaccharidosis IH
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
This is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of…
- Trial name
- TigetT10_MPSIH (NCT03488394)
- Testing
- Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LVV, encoding for the α-L-iduronidase cDNA, in their final formulation medium.
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Orchard Therapeutics
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III
The study quantitates behavioral challenges in mucopolysaccharidosis type I-III and parental coping strategies
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type III, Behavior Disorders
- Trial name
- NCT03161171
- Testing
- This is an observational study
- Where
- Germany
- Volunteers
- 34 people
- Sponsor
- University Hospital Heidelberg
Mucopolysaccharidosis IIIB
A Phase I/II Trial of JR-446 in Mucopolysaccharidosis Type IIIB (MPS IIIB)
This is a global, open-label, Phase I/II, interventional trial in participants younger than 6 years of age with Mucopolysaccharidosis Type IIIB (MPS IIIB), designed to assess the safety and tolerability of JR-446, determine its…
- Trial name
- NCT07640984
- Testing
- JR-446
- Where
- 5 sites in United States, Germany and 1 more
- Volunteers
- 12 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Mucopolysaccharidosis Type I (MPS I), Hurler Syndrome
RGX-111 Gene Therapy in Patients With MPS I
RGX-111 is a gene therapy which is intended to deliver a functional copy of the α-L-iduronidase (IDUA) gene to the central nervous system.
- Conditions
- Mucopolysaccharidosis Type I (MPS I), Hurler Syndrome, Hurler-Scheie Syndrome
- Trial name
- NCT03580083
- Testing
- RGX-111
- Where
- 2 sites in United States, Brazil
- Volunteers
- 21 people
- Sponsor
- REGENXBIO Inc.
Mucopolysaccharidosis I
Long Term Follow-Up for RGX-111
RGX-111-5101 is a long-term follow up study that evaluates the long-term safety and efficacy of RGX-111 in participants who have received RGX-111 (a gene therapy intended to deliver a functional copy of the alpha-L-iduronidase…
- Trial name
- NCT06103487
- Testing
- No Intervention
- Where
- 2 sites in United States, Brazil
- Volunteers
- 21 people
- Sponsor
- REGENXBIO Inc.
Sanfilippo Syndrome Type A, Sanfilippo Syndrome Type B
Neurobehavioral Phenotypes in MPS III
Hypothesis #1: Factor analysis of the revised Sanfilippo Behavior Rating Scale (SBRS) will identify a group of externalizing behaviors and a group of Klüver-Bucy syndrome-like behaviors as two different factors that are at least…
- Conditions
- Sanfilippo Syndrome Type A, Sanfilippo Syndrome Type B, Hurler Syndrome
- Trial name
- NCT01873911
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Minnesota
Mucopolysaccharidosis I, Cognitive Decline
Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I
This is a five-year extension study of the pilot study, "Intrathecal Enzyme Replacement for Cognitive Decline in MPS I". Participants must have completed the pilot study to participate in this study.
- Trial name
- NCT02232477
- Testing
- Intrathecal recombinant human alpha iduronidase
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- agnes chen
Mucopolysaccharidosis Type I, Gargoylism
Biomarker for Hurler Disease (BioHurler)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Mucopolysaccharidosis Type I, Gargoylism, Metabolism, Inborn Errors
- Trial name
- BioHurler (NCT02298712)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Trial name
- LSD Registry (NCT05619900)
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of California, San Francisco
Mucopolysaccharidosis I, Hurler's Syndrome
A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants
The purpose of this study is to determine if laronidase is present in the breast milk of post-partum women receiving Aldurazyme® (laronidase) and the effects of Aldurazyme (laronidase) on the growth, development, and immunologic…
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie
- Trial name
- NCT00418821
- Testing
- Laronidase
- Where
- Italy
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis I, Hurler's Syndrome
Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients
This study is being conducted to collect additional long-term efficacy and safety data of Aldurazyme® (laronidase) patients with MPS I disease.
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00146770
- Testing
- Aldurazyme
- Where
- 25 sites in United States, Brazil and 5 more
- Volunteers
- 45 people
- Sponsor
- Genzyme, a Sanofi Company
Hurler Syndrome, Fanconi Anemia
Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
This is a single arm, phase I study to assess the tolerability of abatacept when combined with cyclosporine and mycophenolate mofetil as graft versus host disease prophylaxis in children undergoing unrelated hematopoietic stem…
- Conditions
- Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01917708
- Testing
- Abatacept
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emory University
Hurler's Syndrome, Maroteaux-Lamy Syndrome
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism undergoing hematopoietic stem cell…
- Conditions
- Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis
- Trial name
- NCT00668564
- Testing
- Stem Cell Transplantation, Cyclophosphamide, Campath-1H
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
Mucopolysaccharidosis I
China Post-marketing Surveillance (PMS) Study of Aldurazyme®
This is a single treatment arm study that is open-label to be conducted in Chinese participants with MPS I. Trial Objectives are to evaluate the safety and tolerability of Aldurazyme in Chinese MPS I participants, and to evaluate…
- Trial name
- NCT05134571
- Testing
- Laronidase
- Where
- 5 sites in China
- Volunteers
- 12 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis Type VI
Gene Therapy in Patients With Mucopolysaccharidosis Disease
This study investigated the safety and efficacy of gene therapy approaches for Mucopolysaccharidosis type VI disease caused by the deficiency of arylsulfatase B (ARSB) enzyme.
- Trial name
- NCT03173521
- Testing
- AAV2/8.TBG.hARSB
- Where
- 2 sites in Italy, Turkey (Türkiye)
- Volunteers
- 9 people
- Sponsor
- Fondazione Telethon
Mucopolysaccharidosis I
Immune Tolerance Study With Aldurazyme® (Laronidase)
The purpose of this study is to see if treatment with an antigen-specific immunosuppressive can decrease or stop an antibody response to laronidase (Aldurazyme®) during enzyme replacement therapy with laronidase in severe…
- Trial name
- NCT00741338
- Testing
- Laronidase, Cyclosporine A (CsA), Azathioprine (Aza)
- Where
- 2 sites in Brazil, Russia
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis Type II (MPS II)
RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)
RGX-121 is a gene therapy which is designed to deliver a functional copy of the iduronate-2-sulfatase (IDS) gene to the central nervous system.
- Trial name
- NCT04571970
- Testing
- RGX-121
- Where
- 2 sites in United States, Canada
- Volunteers
- 6 people
- Sponsor
- REGENXBIO Inc.
MPS IIIA, Sanfilippo Syndrome
Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease
Open-label, clinical trial of scAAV9.U1a.hSGSH injected intravenously through a peripheral limb vein
- Conditions
- MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
- Trial name
- NCT04088734
- Testing
- ABO-102
- Where
- 3 sites in United States, Australia and 1 more
- Volunteers
- 5 people
- Sponsor
- Ultragenyx Pharmaceutical Inc