Clinical trials: Storage Disease
Pompe Disease
Clinical Specimen Collection From Pompe Disease Patients
Clinical specimens are required from individuals with Pompe Disease to support process and analytical development for a genetically modified autologous bone marrow cell product currently in preclinical research, FTX-PD01.
- Trial name
- NCT04476550
- Testing
- Filgrastim
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Serhat Gumrukcu, MD PhD
Neonatal Screening, Lysosomal Storage Diseases
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected.
- Trial name
- LysoNeo (NCT04393701)
- Testing
- Additional blood sampling
- Where
- 2 sites in France
- Volunteers
- 100,000 people
- Sponsor
- University Hospital, Rouen
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
Fabry Disease
Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease
This is a single-arm, open label, single-dose clinical study to evaluate the safety, tolerability and efficacy of BBM-F101 injection in the pediatric Fabry disease participants up to 52 weeks after infusion, and the long-term…
- Trial name
- NCT06207552
- Testing
- BBM-F101 injection
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Fudan University
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.
Pompe's Disease
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the…
- Trial name
- DEPIPOMP1 (NCT02904395)
- Testing
- observational (no intervention)
- Volunteers
- 3,413 people
- Sponsor
- Centre Hospitalier de Cayenne
Fabry Disease
Dosing Study of Replagal in Patients With Fabry Disease
This study will determine the safety and effectiveness of increasing Replagal infusions in certain patients with Fabry disease. Replagal is a genetically engineered form of Alpha-galactosidase A, an enzyme that normally breaks…
- Trial name
- NCT00068107
- Testing
- Replagal
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Baylor Research Institute
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
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
Mucopolysaccharidoses
Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) are a group of inherited, metabolic diseases caused by a deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs).
- Trial name
- RespiGAG (NCT04112602)
- Testing
- Sputum, Tracheal aspiration
- Where
- 7 sites in France
- Volunteers
- 27 people
- Sponsor
- University Hospital, Tours
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
Fabry Disease
Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease
When to start children with Fabry disease on therapy is controversial because of its expense and inconvenience. Many Fabry children complain of exercise intolerance.
- Trial name
- NCT01304875
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Cedars-Sinai Medical Center