Clinical trials: Storage Disease
Gaucher Disease
The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease
The purpose of this study is to compare and evaluate the efficacy and safety of ISU302, an investigational product, and Cerezyme®, comparator, for Type 1 Gaucher Disease patients
- Trial name
- NCT01161914
- Testing
- Cerezyme®, ISU302
- Sponsor
- ISU Abxis Co., Ltd.
Fabry Disease
Replagal Enzyme Replacement Therapy for Children With Fabry Disease
Primary Objective(s): To assess the safety of Replagal at a dose of 0.2 mg/kg administered over 40 (+/-10) minutes in children with Fabry disease To assess the effect of Replagal on heart rate variability in patients 7 to 17…
- Trial name
- NCT00084084
- Testing
- Agalsidase alfa
- Where
- 14 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Glycogen Storage Disease Type II, Pompe Disease
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00051935
- Testing
- Alglucosidase alfa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
MPS III B, Mucopolysaccharidosis Type IIIB
A Treatment Study of Mucopolysaccharidosis Type IIIB
The study's primary objectives are to evaluate the safety and tolerability of AX 250 administered to subjects with MPS IIIB via an ICV reservoir and catheter and to evaluate the impact of AX 250 on cognitive function in patients…
- Trial name
- MPS IIIB (NCT02754076)
- Testing
- AX 250
- Where
- 7 sites in United States, Colombia and 5 more
- Volunteers
- 23 people
- Sponsor
- Allievex Corporation
MPS IV A
A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA
This multicenter, open-label study is designed to assess safety, dose-response using pharmacokinetic (PK) and pharmacodynamic (PD) measures, and clinical efficacy of BMN 110 in subjects between 5 and 18 years of age, diagnosed…
- Trial name
- NCT00884949
- Testing
- BMN 110
- Where
- 3 sites in United Kingdom
- Volunteers
- 20 people
- Sponsor
- BioMarin Pharmaceutical
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Metachromatic Leukodystrophy (MLD)
An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy
The purpose of this study is to collect long-term safety data in participants with metachromatic leukodystrophy (MLD) who are receiving HGT-1110 and have participated in Study HGT-MLD-070 (NCT01510028) through Week 40.
- Trial name
- NCT01887938
- Testing
- HGT-1110
- Where
- 15 sites in Australia, Brazil and 5 more
- Volunteers
- 24 people
- Sponsor
- Shire
Pompe Disease (Infantile-Onset), Glycogen Storage Disease Type II (GSD II)
A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease
A study to demonstrate comparable safety, efficacy, and pharmacokinetics (PK) of alglucosidase alfa manufactured at the 160 litre (L) and 4000 L scales in participants who had been diagnosed with infantile-onset Pompe disease.
- Conditions
- Pompe Disease (Infantile-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenosis 2, Acid Maltase Deficiency
- Trial name
- NCT01597596
- Testing
- alglucosidase alfa
- Where
- 17 sites in United States, Germany and 1 more
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease
A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease
This is a multi-center, double-blind trial to assess the safety and efficacy of taliglucerase alfa in untreated subjects (2 to <18 years old) with Gaucher disease randomly assigned to treatment with one of two doses, 30 or 60…
- Trial name
- NCT01132690
- Testing
- Taliglucerase alfa
- Where
- 3 sites in Israel, Paraguay and 1 more
- Volunteers
- 11 people
- Sponsor
- Pfizer
Fabry Disease
Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease
Primary Objective: To assess the safety, pharmacokinetics (PK), pharmacodynamics (PD), and exploratory efficacy of GZ/SAR402671 in enzyme replacement therapy treatment-naïve adult male participants diagnosed with Fabry disease.
- Trial name
- NCT02228460
- Testing
- GZ/SAR402671
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 11 people
- Sponsor
- Genzyme, a Sanofi Company
Nephropathic Cystinosis
DFT383 in Pediatric Participants With Nephropathic Cystinosis
An open-label, multi-center, phase I/II study to assess the safety, tolerability and efficacy of DFT383 in pediatric participants with nephropathic cystinosis, followed by a long-term extension phase.
- Trial name
- CYStem (NCT06910813)
- Testing
- DFT383
- Where
- 6 sites in United States
- Volunteers
- 30 people
- Sponsor
- Novartis Pharmaceuticals
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
High Dose or High Dose Frequency Study of Alglucosidase Alfa
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00483379
- Testing
- alglucosidase alfa
- Where
- 11 sites in United States, Australia and 1 more
- Volunteers
- 13 people
- Sponsor
- Genzyme, a Sanofi Company
Hunter Syndrome
Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
As the HGT-HIT-046 (NCT01506141) and SHP609-302 (NCT02412787) studies are completed and closed, this post-trial access (PTA) program provides TAK-609 to participants in these studies for whom the benefit:risk ratio of continued…
- Trial name
- NCT05795361
- Testing
- Idursulfase-IT
- Where
- 22 sites in United States, Australia and 3 more
- Sponsor
- Takeda
Gaucher Disease
Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease
The primary purpose of this study is to evaluate the effect of VPRIV therapy (60 units per kilogram [U/kg] every other week [EOW]) in treatment-naive participants with type 1 Gaucher disease on change from baseline in lumbar…
- Trial name
- NCT02574286
- Testing
- Velaglucerase alfa, Vitamin D
- Where
- 15 sites in United States, Israel and 2 more
- Volunteers
- 21 people
- Sponsor
- Shire
Gaucher Disease, Type 1
A Screening Study Evaluating Disease Status of Gaucher Type I Patients
A screening study to identify and characterize the disease status of patients with Gaucher Type 1 disease for potential inclusion in a subsequent phase 3 clinical study.
- Trial name
- NCT00795197
- Where
- 3 sites in United States, India
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease, Fabry´s Disease
The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease
The current approved treatment for Fabry disease is enzyme replacement therapy (ERT). There are actually 2 products in this therapeutic class available: Replagal® (agalsidase alfa) and Fabrazyme® (agalsidase beta).
- Conditions
- Fabry Disease, Fabry´s Disease, Anderson-Fabry Disease
- Trial name
- SWITCH (NCT01268241)
- Where
- 9 sites in Argentina, Belgium and 6 more
- Volunteers
- 200 people
- Sponsor
- CENTOGENE GmbH Rostock
Fabry Disease
A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease
The purpose of this study is to observe the safety of agalsidase alfa in Canadian patients with Fabry disease.
- Trial name
- NCT01298141
- Testing
- agalsidase alfa
- Where
- 12 sites in Canada
- Volunteers
- 171 people
- Sponsor
- Shire
Acid Sphingomyelinase Deficiency, Niemann-Pick Disease
Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)
The purpose of this study is to determine the safe range of single doses of rhASM administered to adults with ASM deficiency.
- Trial name
- NCT00410566
- Testing
- rhASM
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis Type 3 B
Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB
Open-label, dose-escalation clinical trial of rAAV9.CMV.hNAGLU injected intravenously through a peripheral limb vein
- Trial name
- MPSIIIB (NCT03315182)
- Testing
- rAAV9.CMV.hNAGLU
- Where
- 4 sites in United States, France and 2 more
- Volunteers
- 11 people
- Sponsor
- Abeona Therapeutics, Inc
Fabry Disease, Pregnancy
Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
The goal of this observational registry is to evaluate the safety and outcomes of pregnancy and lactation in women with Fabry disease who are exposed to pegunigalsidase alfa within 30 days prior to conception and/or during…
- Conditions
- Fabry Disease, Pregnancy, Pregnancy Complications
- Trial name
- MOS (NCT06941025)
- Testing
- Not applicable- observational study
- Where
- 5 sites in United States, Germany and 3 more
- Volunteers
- 10 people
- Sponsor
- Chiesi Farmaceutici S.p.A.