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
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 I
Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I
The present project will specifically assess metabolic effects of dietary interventions with controlled intake of fructose and fructose/galactose in GSDI, with the aim to provide evidence whether relaxed dietary restrictions of…
- Trial name
- GSD-DIET (NCT06852612)
- Testing
- Fructose, Fructose and galactose
- Where
- 2 sites in Switzerland
- Volunteers
- 20 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
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
Pompe Disease
Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
A recombinant AAV vector has been generated to carry the codon-optimized acid alpha-glucosidase (coGAA) gene expressed from a human desmin enhancer/promoter (DES).
- Trial name
- AAV9-GAA_IM (NCT02240407)
- Testing
- Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase, Rapamycin, saline
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
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
Platelet Storage Pool Deficiency
Effect of Storage Condition on CD47 Expression Level in Platelet Concentrate
Effect of storage condition on CD47 expression level in platelet concentrate
- Trial name
- NCT05529394
- Volunteers
- 1 people
- Sponsor
- Assiut University
Postprandial Lipid Metabolism, Type 1 Diabetes (T1D)
The TiMeD-T1D Project
The aim of the proposed study is to investigate the metabolic consequences of varying the timing of meal insulin boluses and skipping boluses altogether in individuals with type 1 diabetes.
- Trial name
- NCT07172672
- Testing
- 400 mL Fresubin Energy Drink and 100 mL heavy cream with the addition of the 18F-FTHA radiotracer
- Where
- Denmark
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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.
Tay Sachs Disease, Canavan Disease
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer.
- Conditions
- Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
- Trial name
- NCT01999257
- Testing
- Online pre-test genetic education tool
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
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
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
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
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