Clinical trials: Lysosomal Storage Disease
Fabry Disease
This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.
This study is designed to evaluate safety and PK/PD in Canadian Fabry patients.
- Trial name
- NCT01304277
- Testing
- agalsidase alfa
- Where
- 5 sites in Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Fabry Disease, Lysosomal Storage Diseases
A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190
Fabry disease is a rare, X-linked inborn error of glycosphingolipid metabolism caused by an abnormal gene encoding the α-galactosidase A (αGLA) enzyme.
- Trial name
- NCT04455230
- Testing
- FLT190
- Where
- 2 sites in Germany, United Kingdom
- Volunteers
- 3 people
- Sponsor
- Spur Therapeutics
Mucopolysaccharidosis I, Hurler's Syndrome
A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease
The main purpose of this study is to evaluate differences in the pharmacodynamic response of 4 Aldurazyme® (laronidase) dose regimens in patients with Mucopolysaccharidosis I (MPS I).
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00144781
- Testing
- Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
- Where
- 5 sites in Brazil, Canada
- Volunteers
- 34 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study
Study to evaluate the long-term safety, tolerability, and pharmacodynamics (PD) of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease
- Trial name
- NCT00526071
- Testing
- migalastat HCl
- Where
- 8 sites in United States, Australia and 3 more
- Volunteers
- 23 people
- Sponsor
- Amicus Therapeutics
Gaucher Disease, Type 1
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease Type 1.
- Trial name
- NCT00891202
- Testing
- Eliglustat tartrate
- Where
- 18 sites in United States, Bulgaria and 10 more
- Volunteers
- 40 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis IIIB
Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)
Study to evaluate the safety and tolerability of intravenous (IV) administration of SBC-103 in participants with mucopolysaccharidosis III, type B (MPS IIIB, Sanfilippo B) with evaluable signs or symptoms of developmental delay.
- Trial name
- NCT02324049
- Testing
- SBC-103
- Where
- 4 sites in United States, Spain and 1 more
- Volunteers
- 11 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis Type II
The purpose of this study in patients with mucopolysaccharidosis type II (MPS II) is below, to collect the safety information of JR-141 to evaluate the plasma pharmacokinetics of JR-141 to explore the efficacy of JR-141 on MPS…
- Trial name
- NCT03128593
- Testing
- JR-141
- Where
- 8 sites in Japan
- Volunteers
- 14 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Digestive Health, Abdominal Discomfort
Study to Investigate the Efficacy of a Digestive Health Dietary Supplement on Post-meal Bloating in Healthy Participants
The goal of this crossover clinical trial is to evaluate the efficacy and safety of Bloat Gummies on postprandial bloating and related gastrointestinal discomfort in healthy adults with recurrent bloating.
- Conditions
- Digestive Health, Abdominal Discomfort, Gas and Bloating
- Trial name
- NCT07516587
- Testing
- Bloat Gummies
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Arrae
Fabry Disease
Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease
The main goals of this clinical study are to characterize safety and PK/PD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in the body of people with Fabry disease.
- Trial name
- NCT06270316
- Testing
- AMT-191
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- UniQure Biopharma B.V.
Pompe Disease (Late-onset)
Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease.
- Trial name
- NCT06391736
- Testing
- GC301
- Where
- China
- Volunteers
- 33 people
- Sponsor
- GeneCradle Inc
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
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 (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00158600
- Testing
- alglucosidase alfa
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 90 people
- Sponsor
- Genzyme, a Sanofi Company
Lysosomal Acid Lipase Deficiency
A Study to Identify and Characterize LAL-D Patients in High-risk Populations
The objective of this study is to determine the frequency of Lysosomal Acid Lipase Deficiency (LAL D) by lysosomal acid lipase (LAL) enzyme activity assay in patients who are considered to be at risk.
- Trial name
- NCT02345421
- Where
- 15 sites in United States
- Volunteers
- 640 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Fabry Disease
Early Detection of Fabry Disease
The main aim of this study is early detection of FD using real-world data for the development of advanced natural language processing methods and to develop a predictive algorithm and to measure the performance of the algorithm…
- Trial name
- NCT05106764
- Testing
- No intervention
- Where
- 3 sites in Germany
- Volunteers
- 50 people
- Sponsor
- Takeda
Fabry Disease
A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms
The purpose of this study was to determine whether 2 alternative dosing regimens of Fabrazyme (Agalsidase beta) (1.0 mg/kg every 4 weeks or 0.5 mg/kg every 2 weeks) were effective in treatment-naïve pediatric participants without…
- Trial name
- FIELD (NCT00701415)
- Testing
- Agalsidase beta
- Where
- 12 sites in United States, Argentina and 7 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease
A phase 1/2, multicenter, open-label, Dose-escalation study to evaluate the safety and efficacy of intravenous EXG110 in patients with Fabry disease
- Trial name
- NCT06819514
- Testing
- EXG110 Injection
- Where
- 3 sites in China
- Volunteers
- 16 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
Sanfilippo Syndrome Type A
A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
The purpose is to evaluate the course of disease progression in MPS IIIA patients who are untreated to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including…
- Trial name
- NCT01047306
- Testing
- assessment
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Shire
Sanfilippo Syndrome B
Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome
This is an open-label, phase I/II study of intra-cerebral administration of adenovirus-associated viral vector containing the human NAGLU cDNA to children suffering from Sanfilippo type B syndrome.
- Trial name
- NCT03300453
- Testing
- rAAV2/5-hNAGLU
- Where
- France
- Volunteers
- 4 people
- Sponsor
- UniQure Biopharma B.V.
Mucopolysaccharidosis III, Type B (MPS IIIB), Sanfilippo B
A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously
This study evaluated the safety and tolerability of intravenous (IV) administration of SBC-103 in previously studied, SBC-103 treatment naïve patients with mucopolysaccharidosis III, type B (MPS IIIB, Sanfilippo B) who…
- Trial name
- CL01-T (NCT02618512)
- Testing
- SBC-103
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Gaucher Disease
Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease
Gaucher disease is an inherited deficiency of the lysosomal enzyme glucocerebrosidase (GCB) that leads to progressive accumulation of glucocerebroside within macrophages and subsequent tissue and organ damage; typically of the…
- Trial name
- NCT01614574
- Testing
- velaglucerase alfa
- Where
- 3 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Shire
Fabry Disease
Migalastat Food Effect Study
A 5-period crossover study to evaluate the effect of meal type and timing on migalastat HCl pharmacokinetics in healthy male and female subjects.
- Trial name
- NCT01489995
- Testing
- A (migalastat), B (migalastat), C (migalastat)
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics