Clinical trials: Mucopolysaccharidosis VI
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
MPS I, MPS II
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses…
- Conditions
- MPS I, MPS II, MPS IVA, MPS VI
- Trial name
- PEARL (NCT04532047)
- Testing
- Aldurazyme (laronidase)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of California, San Francisco
MPS IVA, MPS VI
Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI
This is a Phase I/II, single arm, open label study of vosoritide therapy provided subcutaneously at 15 ug/kg/day for 96 weeks to 6 patients with MPS IVA or VI.
- Trial name
- NCT05845749
- Testing
- Vosoritide Injection [Voxzogo]
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of California, San Francisco
Mucopolysaccharidosis I, Mucopolysaccharidosis II
MPS (RaDiCo Cohort) (RaDiCo-MPS)
The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV
- Trial name
- NCT06036693
- Where
- 23 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI
Randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT03153319
- Testing
- Adalimumab Injection [Humira], Saline Solution for Injection
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Mucopolysaccharidosis Disorders, Hurler Syndrome
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based…
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome
- Trial name
- NCT02171104
- Testing
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen
- Where
- United States
- Volunteers
- 149 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
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
Lysosomal Storage Disease, Lung Diseases
Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood
- Conditions
- Lysosomal Storage Disease, Lung Diseases, Obstructive Sleep Apnoea, Macroglossia
- Trial name
- BioMaroteaux (NCT01458613)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
Mucopolysaccharidoses (MPS) are multisystemic diseases with significant clinical overlap between their types, with cardiac problems being among the most commonly observed manifestations and are also among the main causes of…
- Conditions
- Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidoses, MPS IV A
- Trial name
- NCT03632213
- Testing
- Losartan
- Where
- Brazil
- Volunteers
- 10 people
- Sponsor
- Hospital de Clinicas de Porto Alegre
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome)
Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)
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…
- Trial name
- NCT00214773
- Where
- 50 sites in United States, Australia and 11 more
- Volunteers
- 237 people
- Sponsor
- BioMarin Pharmaceutical
Mucopolysaccharidosis (MPS)
Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of…
- Trial name
- NCT02095015
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 159 people
- Sponsor
- Shire
Mucopolysaccharidoses
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
Mucopolysaccharidosis (MPS) syndromes are disorders characterized by enzyme deficiencies, and they have been linked to heart health complications.
- Trial name
- NCT01586871
- Where
- 2 sites in United States
- Volunteers
- 1,147 people
- Sponsor
- University of Minnesota
Maroteaux-Lamy Syndrome
Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome
This is a single center study in which Naglazyme® will be given weekly for two years in patients with Maroteaux-Lamy syndrome, also known as mucopolysaccharide VI (MPS VI), who have previously been treated with an allogeneic…
- Trial name
- NCT02156674
- Testing
- Naglazyme®
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Mucopolysaccharidosis VI
A Study in MPS VI to Assess Safety and Efficacy of Odiparcil
Mucopolysaccharidoses (MPS) are a group of rare inherited disorders characterized by a deficiency of lysosomal enzymes responsible for the normal degradation of glycosaminoglycans (GAGs).
- Trial name
- iMProveS (NCT03370653)
- Testing
- Odiparcil
- Where
- 4 sites in France, Germany and 2 more
- Volunteers
- 20 people
- Sponsor
- Inventiva Pharma
Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II)
Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e.
- Conditions
- Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), Mucopolysaccharidosis Type III (MPS III), Mucopolysaccharidosis Type VI (MPS VI)
- Trial name
- NCT01938014
- Where
- 3 sites in United States
- Volunteers
- 19 people
- Sponsor
- University of Chicago
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