Clinical trials: Mucinoses
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis II (BR21)
A Phase II open-label, randomized, parallel group, 2 sites (Brazil), designed to evaluate the safety and efficacy of 3 doses of study drug for the treatment of the MPS II.
- Trial name
- NCT03359213
- Testing
- JR-141
- Where
- 2 sites in Brazil
- Volunteers
- 18 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Mucopolysaccharidosis III-A
Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA
A Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
- Trial name
- NCT06095388
- Testing
- JR-441
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Sanfilippo Syndrome Type D
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…
- Trial name
- MPSIIID (NCT05648851)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Phoenix Nest
Hypochondroplasia
An Interventional Study of Infigratinib in Children With Hypochondroplasia
ACCEL2/3 is a Phase 2/3 study. The purpose of the Phase 2 portion of the study (ACCEL2/3) is to evaluate the efficacy and safety of infigratinib in children with hypochondroplasia (HCH) receiving infigratinib at one of two doses…
- Trial name
- HCH (NCT06873035)
- Testing
- infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 24 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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 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.
Genetic Skeletal Diseases, Skeletal Dysplasia
Decoding the Genetic Landscape of Skeletal Diseases
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize…
- Conditions
- Genetic Skeletal Diseases, Skeletal Dysplasia, Molecular Causes, Skeletal Disorder
- Trial name
- SKDLAND (NCT05876416)
- Where
- Sweden
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Karolinska Institutet
MPS I, MPS IV A
Cardiac Structure and Function in MPS
The purpose of this study is to better understand how heart and blood vessel problems develop in people with Mucopolysaccharidosis (MPS).
- Conditions
- MPS I, MPS IV A, MPS - Mucopolysaccharidosis, MPS IVA
- Trial name
- NCT07361536
- Where
- 3 sites in United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Orange County
Inherited Metabolic Disorders (IMD)
MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
This study is designed to assess the safety and efficacy of using MGTA-456 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT03406962
- Testing
- MGTA-456
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- Magenta Therapeutics, Inc.
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Longitudinal Studies of Brain Structure and Function in MPS Disorders
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…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV
- Trial name
- NCT01870375
- Where
- 4 sites in United States, Canada
- Volunteers
- 100 people
- Sponsor
- University of Minnesota
Severe Combined Immunodeficiency, Malignancy, Hematologic
Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products
This protocol (GENEFU) provides a mechanism for the 15-year followup period that the FDA requires for all participants in gene transfer protocols and assures that adequate followup can be maintained for a wide variety of…
- Conditions
- Severe Combined Immunodeficiency, Malignancy, Hematologic, Neuroblastoma, Neoplasm
- Trial name
- NCT00695279
- Testing
- Venipuncture
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- St. Jude Children's Research Hospital
Mucopolysaccharidosis VI
Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI
The purpose of the study is to evaluate the ability of rhASB versus placebo to enhance endurance in patients with Mucopolysaccharidosis VI (MPS VI), as evidenced by an increase in the number of meters walked in the 12 minute walk…
- Trial name
- NCT00067470
- Testing
- N-acetylgalactosamine 4-sulfatase
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- BioMarin Pharmaceutical
Achondroplasia
Study of Infigratinib in Children With Achondroplasia
This is a Phase 2, multicenter, open-label, dose-escalation and dose-expansion study to evaluate the safety, tolerability, and efficacy of infigratinib, a fibroblast growth factor receptor (FGFR) 1-3-selective tyrosine kinase…
- Trial name
- NCT04265651
- Testing
- Infigratinib 0.016 mg/kg, Infigratinib 0.032 mg/kg, Infigratinib 0.064 mg/kg
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 84 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Osteodysplasia
Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation
Osteodysplasia or poorly formed bones, "brittle bones" is a genetic disease with no known proven treatments. Some forms of osteodysplasia may cause severe disability and even death.
- Trial name
- NCT00186914
- Testing
- Marrow stromal cell infusion
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- St. Jude Children's Research Hospital
Hypochondroplasia
Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treated Children
This study is conducted to describe the efficacy and safety of recombinant human growth hormone (r-hGH) treatment Saizen® on children with hypochondroplasia.
- Trial name
- NCT01111019
- Testing
- Recombinant human growth hormone (r-hGH)
- Where
- France
- Volunteers
- 19 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Morquio's Disease
Morquio's Syndrome: a Case Study
OBJECTIVES: Relating about the benefits proportionated by the physiotherapeutic treatment for the patients that have the Morquio's syndrome.
- Trial name
- NCT00609440
- Testing
- physiotherapeutic treatment
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Clínica de Hidroterapia e Recuperacao Funcional
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 IV, Morquio A Disease
Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase.
- Trial name
- NCT02153255
- Where
- United Kingdom
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs