Clinical trials: Storage Disease
Gaucher Disease
Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial
Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD) leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the…
- Trial name
- NCT00705939
- Testing
- Taliglucerase alfa
- Where
- 11 sites in United States, Australia and 6 more
- Volunteers
- 45 people
- Sponsor
- Pfizer
Glycogen Storage Disease Type III
Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)
The primary objective of this study is to evaluate potential biomarkers of GSD III.
- Trial name
- NCT04574830
- Testing
- No Intervention
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Glycogen Storage Disease Type II, Pompe Disease
rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)
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
- NCT00053573
- Testing
- Myozyme
- Where
- 6 sites in United States, France and 2 more
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis Type IIIB
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B).
- Trial name
- NCT03227042
- Where
- 9 sites in United States, Argentina and 7 more
- Volunteers
- 44 people
- Sponsor
- Allievex Corporation
Mucopolysaccharidosis IH/S, Mucopolysaccharidosis IS
ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I
A first-in-human study using ISP-001 in patients with Mucopolysaccharidosis Type I Hurler-Scheie and Scheie.
- Trial name
- NCT05682144
- Testing
- Autologous Plasmablasts (B cells)
- Where
- 2 sites in United States
- Volunteers
- 11 people
- Sponsor
- Immusoft of CA, Inc.
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.
Lysosomal Acid Lipase Deficiency
An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency
This is an open-label, multicenter expanded access protocol to allow patients with a confirmed diagnosis of Lysosomal Acid Lipase (LAL) Deficiency in the United States (US), access to sebelipase alfa (recombinant lysosomal acid…
- Trial name
- NCT02376751
- Testing
- sebelipase alfa
- Sponsor
- Alexion Pharmaceuticals, Inc.
Vitamin D Deficiency, Vitamin D Insufficiency
ALPCO 25(OH) Vitamin D CLIA Kit - Fresh Versus Frozen Serum and Plasma Stability Study
This study evaluates the stability of 25-hydroxyvitamin D [25(OH)D] measurements in human serum and plasma using the ALPCO 25(OH) Vitamin D CLIA Kit.
- Conditions
- Vitamin D Deficiency, Vitamin D Insufficiency, Healthy Volunteers
- Trial name
- NCT07565064
- Testing
- ALPCO 25(OH) Vitamin D CLIA Kit
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- American Laboratory Products Company
Gaucher's Disease Type III
Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3
This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or…
- Trial name
- LEAP2MONO (NCT05222906)
- Testing
- Venglustat, imiglucerase
- Where
- 22 sites in United States, Argentina and 9 more
- Volunteers
- 43 people
- Sponsor
- Sanofi
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
Fabry Disease, Anderson Fabry Disease
Treatment-related Benefit and Satisfaction in Fabry Patients. Insight in Patients Expectations and Preferences
In the shared decision-making process, patients should express their expectations and preferences regarding treatment to the physician.
- Trial name
- NCT04043273
- Testing
- Noninterventional characterization of patients expectations and preferences regarding their treatment
- Where
- 15 sites in France
- Volunteers
- 69 people
- Sponsor
- Amicus Therapeutics France SAS
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
Safety Study of Replagal® Therapy in Children With Fabry Disease
The purpose of this study is to assess the safety of Replagal in children with Fabry disease who who have not previously been treated with enzyme replacement therapy (ERT).
- Trial name
- NCT01363492
- Testing
- Replagal (agalsidase alfa)
- Where
- 5 sites in United States
- Volunteers
- 15 people
- Sponsor
- Shire
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
Hunter Syndrome, Mucopolysaccharidosis II
Biomarkers for Hunter Syndrome
International, multicenter, observational, longitudinal study to establish Hunter Syndrom biomarker/s and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s
- Conditions
- Hunter Syndrome, Mucopolysaccharidosis II, Hunter's Syndrome, Mild Form, Hunter's Canal Syndrome
- Trial name
- BioHunter (NCT01330277)
- Where
- 4 sites in Mexico
- Volunteers
- 11 people
- Sponsor
- CENTOGENE GmbH Rostock
Gut Health
Effectiveness of a Butyrate Formulation and Butyrate + Polyphenol Formulation on Gut Health, Permeability and Associated Symptoms
The purpose of this study is the assess the effectiveness and safety of a Butyrate formulation and a Butyrate + Polyphenol formulation on gut health, permeability and associated symptoms
- Trial name
- NCT06419231
- Testing
- Butyrate Formulation, Butyrate + Polyphenol Formulation
- Where
- United States
- Volunteers
- 143 people, healthy volunteers welcome
- Sponsor
- Supplement Formulators, Inc.
Lysosomal Acid Lipase Deficiency
Screening for Lysosomal Acid Lipase Deficiency
The primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients…
- Trial name
- NCT02926872
- Testing
- There is no intervention in the study
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Gaucher Disease
A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease
The main aim of this study is to learn if velaglucerase alfa (VPRIV) improves growth and symptoms in participants up to 5 years of age with Gaucher disease. Symptoms will be checked with blood tests.
- Trial name
- PEDS (NCT04721366)
- Testing
- Standard of Care
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Takeda
Fabry Disease
Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease
The study will be a randomized, double blind, placebo-controlled study of the safety and efficacy of PRX-102 in ERT naïve male patients randomized 1:1. Patient age will be 14 to 45 years.
- Trial name
- NCT02921620
- Testing
- PRX-102
- Sponsor
- Protalix