Clinical trials: Storage Disease
Glycogen Storage Disease IIIA
Acute Nutritional Ketosis in GSD IIIa
The investigators will study if acute nutritional ketosis in adult GSD IIIa patients can boost muscle mitochondrial function in vivo.
- Trial name
- NCT03011203
- Testing
- physical exercise
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- University Medical Center Groningen
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.
Hemato-Oncologic Patients, Myelosuppression
Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma
The purpose of this study is to evaluate the clinical efficacy of transfusions with platelets stored in platelet additive solution II compared to plasma storage.
- Conditions
- Hemato-Oncologic Patients, Myelosuppression, Thrombocytopenia
- Trial name
- NCT00151866
- Testing
- platelet transfusion
- Where
- Netherlands
- Volunteers
- 180 people
- Sponsor
- Sanquin Research & Blood Bank Divisions
Fanconi Anaemia
Non-invasive Characterisation of Oral Carcinomas in Patients With Fanconi Anaemia
Patients with Fanconi anaemia have an increased risk of developing squamous cell carcinoma of the head and neck. In addition, their genetic vulnerability limits the use of genotoxic treatments such as radiotherapy and…
- Trial name
- Fanc-Oral (NCT07242261)
- Testing
- Oral brushing
- Volunteers
- 115 people
- Sponsor
- Institut Jean-Godinot
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Mucopolysaccharidosis I
Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I
AGT-181 is a fusion protein containing alpha-L-Iduronidase that is intended to deliver the enzyme peripherally and to the brain, when administered intravenously.
- Trial name
- NCT02371226
- Testing
- AGT-181 (HIRMAb-IDUA)
- Where
- 6 sites in United States
- Volunteers
- 3 people
- Sponsor
- ArmaGen, Inc
Sly Syndrome, MPS VII
Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
The primary objective was to evaluate the effect of UX003 treatment in pediatric MPS VII participants less than 5 years of age on safety, tolerability, and efficacy as determined by the reduction of urinary glycosaminoglycans…
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02418455
- Testing
- UX003
- Where
- 5 sites in United States, Portugal and 1 more
- Volunteers
- 8 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Type I Gaucher Disease
Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease
Ambroxol is expected to improve the signs and symptoms of patients with Type I Gaucher Disease.
- Trial name
- NCT01463215
- Testing
- Ambroxol
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Exsar Corporation
Mucopolysaccharidosis I, Hurler Syndrome
Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
This is a multi-center, open label, study conducted to evaluate the safety of laronidase administered by intravenous drip infusion in Japanese patients with MPS I disease.
- Conditions
- Mucopolysaccharidosis I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00258011
- Testing
- Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
- Where
- 2 sites in Japan
- Volunteers
- 3 people
- Sponsor
- Genzyme, a Sanofi Company
Late Infantile Metachromatic Leukodystrophy
Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD
This is a multi-center, open-label, extension study of patients with late infantile MLD who have previously completed clinical study HGT-MLD-048 (NCT00633139), defined as the completion of all Week 52 procedures.
- Trial name
- NCT00681811
- Testing
- HGT-1111
- Where
- Denmark
- Volunteers
- 11 people
- Sponsor
- Shire
Rare Diseases, Fabry Disease
Evaluation of HEArt invoLvement in Patients With FABRY Disease
This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.
- Conditions
- Rare Diseases, Fabry Disease, Fabry Disease, Cardiac Variant, Hypertrophic Cardiomyopathy
- Trial name
- HEAL-FABRY (NCT03362164)
- Where
- Germany
- Volunteers
- 650 people
- Sponsor
- Wuerzburg University Hospital
Fabry Disease
A Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease
Study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.
- Trial name
- NCT00214500
- Testing
- migalastat HCl
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Amicus Therapeutics
Sly Syndrome, MPS VII
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02432144
- Testing
- UX003
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Prostate Cancer
Collecting and Storing Blood and Tumor Tissue Samples From Patients Undergoing Prostatectomy or Transurethral Resection of the Prostate
The primary objective of this study is to collect material for study's to assess mechanisms of tumor progression, mechanisms of resistance, isolation of stem cells and biologic markers in tissue, serum and peripheral blood…
- Trial name
- NCT00991315
- Where
- United States
- Volunteers
- 126 people
- Sponsor
- Rutgers, The State University of New Jersey
Fabry Disease
Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease
This program allows physicians to request permission from Amicus Therapeutics (Amicus) for treatment access to migalastat hydrochloride (HCl) for specific patients with Fabry disease. Treatment is open label.
- Trial name
- NCT01476163
- Testing
- migalastat HCl 150 mg, migalastat HCl 20 mg
- Sponsor
- Amicus Therapeutics
Cystinosis
Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis
The purpose of this study is to gather information about the effectiveness (how well it works to treat cystinosis) and safety of a new form of cysteamine bitartrate called RP103, compared to the already-approved drug cystinosis…
- Trial name
- NCT01733316
- Testing
- RP103, Cystagon®
- Where
- 14 sites in United States, Belgium and 4 more
- Volunteers
- 41 people
- Sponsor
- Amgen
Hyperlipidemias
Glucose-stimulated Gut Lipid Release
During dietary fat absorption, the gut packages the majority of the fats into lipid particles that are secreted into blood circulation.
- Trial name
- NCT03464240
- Testing
- Glucose, Water
- Where
- 2 sites in Canada
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Type 3 Gaucher Disease
Managed Access Program of Venglustat in Pediatric and Adult Patients With Type 3 Gaucher Disease (GD3).
The objective of this program is to provide early access to venglustat for certain patients with Gaucher disease type 3 in response to unsolicited requests from healthcare providers.
- Trial name
- NCT07675031
- Testing
- GZ402671
- Sponsor
- Sanofi
Glycogen Storage Disease
A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)
The main goal of this trial is to evaluate the safety and tolerability of mRNA-3745 via intravenous (IV) administration in adult and pediatric participants with GSD1a.
- Trial name
- NCT05095727
- Testing
- mRNA-3745
- Where
- 16 sites in United States, Canada and 4 more
- Volunteers
- 15 people
- Sponsor
- ModernaTX, Inc.
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