Clinical trials: Storage Disease
Fabry Disease
Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease
This was a multinational, open-label study to assess the efficacy and safety of AVR-RD-01 in approximately 15 male subjects, who were 16 years of age or older and postpubertal with a confirmed diagnosis of classic Fabry disease…
- Trial name
- NCT03454893
- Testing
- AVR-RD-01
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 15 people
- Sponsor
- AVROBIO
Spinal Cord Compression, Mucopolysaccharidosis I
Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I
This is a one-year extension study of the use of laronidase into the spinal fluid to treat spinal cord compression in mucopolysaccharidosis I.
- Conditions
- Spinal Cord Compression, Mucopolysaccharidosis I, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00786968
- Testing
- laronidase
- Where
- 2 sites in United States, Finland
- Volunteers
- 3 people
- Sponsor
- Patricia I. Dickson, M.D.
HIV Infections
Consent for Use of Stored Patient Specimens for Future Testing
The purpose of this study is to obtain informed consent to use stored human biological materials (HBM) (e.g., blood and other tissues) for future studies that may include genetic testing.
- Trial name
- NCT00031408
- Where
- 63 sites in United States, Puerto Rico
- Volunteers
- 17,444 people, healthy volunteers welcome
- Sponsor
- Advancing Clinical Therapeutics Globally for HIV/AIDS and Other Infections
Breast Milk Collection, Microbial Colonization
Storage Conditions and Breast Milk Microbiota Composition
Breast milk is the mainstay of newborn nutrition, providing all the nutrients and vitamins necessary for optimal growth of newborn infants.
- Trial name
- NCT05669690
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Istanbul University
Ovarian Cancer, Peritoneal Cancer
Primary Tumor Harvest for the Purpose of Possible Use in a Future Clinical Trial in Patients With Ovarian, Fallopian Tube or Primary Peritoneal Cancer
The purpose of this research study is to collect tumor samples at the time of surgery and store them for possible use as part of an experimental vaccine study for the participants cancer in the future.
- Conditions
- Ovarian Cancer, Peritoneal Cancer, Fallopian Tube Cancer
- Trial name
- NCT00801320
- Testing
- Tumor collection
- Where
- 4 sites in United States
- Volunteers
- 100 people
- Sponsor
- Beth Israel Deaconess Medical Center
Krabbe Disease
Krabbe Disease Global Patient Registry
The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to…
- Trial name
- NCT02993796
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- State University of New York at Buffalo
Alpha Mannosidosis
Dose Finding Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis
This is a single-center, open-label, multiple-dose study of the efficacy and long-term safety of Lamazym for the treatment of patients with alpha-mannosidosis.
- Trial name
- NCT01285700
- Testing
- Lamazym
- Where
- Denmark
- Volunteers
- 10 people
- Sponsor
- Zymenex A/S
Pompe Disease
Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
- Trial name
- NCT03865836
- Testing
- ATB200, AT2221
- Sponsor
- Amicus Therapeutics
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.
Mucopolysaccharidosis II
An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjects
An extension of Global Phase III open-label, multicenter designed to evaluate the Long-term safety and efficacy of study drug for the treatment of the MPS II.
- Trial name
- NCT05594992
- Testing
- JR-141
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 80 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Lysosomal Diseases, Gangliosidosis
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
Background: GM1 gangliosidosis is a disorder that destroys nerve cells. It is fatal. There is no treatment. People with GM1 are deficient in a certain enzyme. A gene therapy may help the body make this enzyme.
- Conditions
- Lysosomal Diseases, Gangliosidosis, GM1
- Trial name
- NCT03952637
- Testing
- AAV9-GLB1, Abdominal ultrasound, Rituximab
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Gaucher Disease
A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease
The main purpose of this study is to observe the side effects of VPRIV in participants with type 1 Gaucher disease who are either treatment-naïve (newly diagnosed) or who are currently being treated with enzyme replacement…
- Trial name
- NCT05529992
- Testing
- Velaglucerase Alfa
- Where
- 10 sites in China
- Volunteers
- 20 people
- Sponsor
- Takeda
Late Infantile Metachromatic Leukodystrophy
Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
This is a single center, open-label study of patients with late infantile MLD. All patients were previous treated 26 weeks in the phase I trial (EudraCT number: 2006-005341-11, NCT00418561).
- Trial name
- NCT00633139
- Testing
- Recombinant human Arylsulfatase A (rhASA)
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Cardiac Glycogenosis, Cardiomyopathy
ATR 1072 in Participants With PRKAG2 Syndrome
ATR 1072 is an investigational medicine being studied in adults with PRKAG2 Syndrome. This study will evaluate the safety of ATR 1072 and how the body processes the drug.
- Conditions
- Cardiac Glycogenosis, Cardiomyopathy, Hypertrophic, Wolff-Parkinson-White Syndrome
- Trial name
- NCT07738107
- Testing
- ATR 1072
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Atrium Therapeutics
MPS IVA, Morquio Syndrome
Gait Analysis in MPS IVA
The purpose of this study is to learn about gait (walking) characteristics in MPS IVA and possible changes in gait with enzyme replacement therapy.
- Trial name
- NCT01920828
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Oregon Health and Science University
Gaucher Disease
A Study of VPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapies or Substrate Reduction Therapies
The main aim of this study is to describe the safety profile of velaglucerase alfa (VPRIV) in participants with Gaucher disease type 1.
- Trial name
- NCT04094181
- Where
- Canada
- Volunteers
- 2 people
- Sponsor
- Shire
Pompe Disease (Late-onset), GAA Deficiency
Treatment Frequency Reduction in Pompe Disease
The aim of this study is to assess if dosing frequency reduction of alglucosidase alfa 20 mg/kg once every 2 weeks to once every 4 weeks is safe and does not lead to increased progression of disease in a selected group of…
- Conditions
- Pompe Disease (Late-onset), GAA Deficiency, Glycogen Storage Disease Type II, Acid Maltase Deficiency
- Trial name
- TRIPOD (NCT06575829)
- Testing
- Algucosidase alfa 20 mg/kg once every 4 weeks instead of once every 2 weeks
- Volunteers
- 10 people
- Sponsor
- Erasmus Medical Center
Obesity, Diabetes
Testing the Effects of Singapore's Front-of-Pack Healthier Choice Symbol Label With or Without a Physical Activity Equivalent Label
Poor diets are known risk factors for chronic diseases, and in recent years, food labelling has been increasingly sought-after as a cost-effective intervention to help stem the rising trend in chronic diseases.
- Conditions
- Obesity, Diabetes, Diet, Healthy
- Trial name
- NCT04172337
- Testing
- Healthier Choice Symbol, Physical Activity Equivalent label
- Where
- Singapore
- Volunteers
- 117 people, healthy volunteers welcome
- Sponsor
- Duke-NUS Graduate Medical School
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
Niemann-Pick Disease, Type C1
Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
Background: Hydroxypropyl beta cyclodextrin (HPBCD) is being tested for a disease called Niemann-Pick disease type C1 (NPC1). NPC1 is a genetic disorder that results in gradual loss of nervous system function.
- Trial name
- NCT01747135
- Testing
- VTS-270
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company
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