Clinical trials: Storage Disease
Fabry Disease
A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta
This is an exploratory study to evaluate changes in glycosphingolipid levels and other (exploratory) Fabry disease parameters in male Fabry disease participants who were previously treated with agalsidase alfa (Replagal®) 0.2…
- Trial name
- NCT01650779
- Testing
- Agalsidase beta
- Where
- 6 sites in United States
- Volunteers
- 15 people
- Sponsor
- Genzyme, a Sanofi Company
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Fabry Disease
Diagnostic Role of Renal Biopsy in Patients With Fabry Disease
This is a retrospective, single-centre, non-pharmacological observational study carried out for scientific and health protection purposes.
- Trial name
- FABRY-SS-21 (NCT06801288)
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV), Neutral Lipid Storage Disease With Myopathy (NLSD-M)
Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
This study is planning to evaluate the safety and clinical efficacy of medium-chain fatty acid capsules (food-grade CNT-02) in subjects with primary triglyceride deposit cardiomyovasculopathy (TGCV) and neutral lipid storage…
- Trial name
- NCT02830763
- Testing
- CNT-02
- Where
- 7 sites in Italy, Japan
- Volunteers
- 2 people
- Sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Fabry Disease
Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
In this work, we address the understanding of the signaling pathways involved in cardiac remodeling in human SCD through molecular imaging analysis with a fibrosis marker.
- Trial name
- FABRyCar (NCT07351136)
- Testing
- PET scan of 68Ga-FAPI
- Volunteers
- 20 people
- Sponsor
- Núcleo de Apoio à Investigação Clínica - FMUP
Glut1 Deficiency Syndrome 1, Glucose Metabolism Disorders
Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease
The goal is to develop methodology to monitor flux in the citric acid cycle in brain via 13C nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla or 3 Tesla.
- Conditions
- Glut1 Deficiency Syndrome 1, Glucose Metabolism Disorders, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive
- Trial name
- NCT05085704
- Testing
- Magnetic resonance imaging
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Obesity
Multi-level Communications and Access Strategies to Improve the Food Environment
The overarching goal of B'More Healthy Retail Rewards (BHRR) is to develop, implement, and evaluate a pilot multi-level communications and pricing intervention to improve access to and consumption of healthy foods in low-income…
- Trial name
- BHRR (NCT02279849)
- Testing
- Communications, Pricing, Combined (Communications & Pricing)
- Where
- United States
- Volunteers
- 444 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins Bloomberg School of Public Health
Fabry's Disease, Chronic Pain
Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Fabry disease is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection…
- Trial name
- DOUFABIS (NCT02450604)
- Testing
- Diagnosis of Fabry disease
- Where
- 21 sites in France
- Volunteers
- 776 people
- Sponsor
- University Hospital, Bordeaux
Myelofibrosis, Gaucher Disease
Clinical and Pathophysiological Investigations Into Erdheim Chester Disease
Background: Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain.
- Conditions
- Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT01417520
- Where
- United States
- Volunteers
- 88 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Gaucher Disease, Type 1
Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00954460
- Testing
- velaglucerase alfa
- Where
- 32 sites in United States
- Sponsor
- Shire
Glycogen Storage Disease Type II
Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00125879
- Testing
- Myozyme
- Where
- 14 sites in United States, France and 5 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Intracranial Central Nervous System Disorder, Mental Disorder
Test of A Model of Representational Knowledge Stored in the Human Prefrontal Cortex
This study will examine the underlying mental processes that determine how people understand social behavior, remember information, and think.
- Conditions
- Intracranial Central Nervous System Disorder, Mental Disorder, Healthy
- Trial name
- NCT00024908
- Where
- United States
- Volunteers
- 949 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Lysosomal Acid Lipase Deficiency, Wolman Disease
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
- Trial name
- NCT01358370
- Where
- 14 sites in United States, Canada and 3 more
- Volunteers
- 40 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Obesity, Wolman Disease
Breakfast for Young Women
Investigators will in a crossover study test the health effects of eating a dairy-based protein-rich breakfast, isocaloric carbohydrate-rich breakfast or no breakfast in young overweight women.
- Conditions
- Obesity, Wolman Disease, Nutrition
- Trial name
- GoDag (NCT04652713)
- Testing
- Protein-rich breakfast, Carbohydrate-rich breakfast, No breakfast
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Fabry Disease
Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201
This is a multinational, long-term follow-up study to assess the long-term safety and durability of AVR-RD-01 treatment in participants who received a single dose administration of lentiviral gene therapy in Study AVRO-RD-01-201…
- Trial name
- NCT04999059
- Testing
- Safety and Efficacy Assessments
- Where
- 3 sites in Australia, Brazil
- Volunteers
- 5 people
- Sponsor
- AVROBIO
Prostatic Hyperplasia
Study to Characterise the Effect of Tamsulosin on Lower Urinary Tract Symptoms (LUTS) and Detrusor Motor Activity in Patients Affected by Benign Prostatic Hyperplasia (BPH) and Storage Urinary Symptoms
Study to evaluate the efficacy of tamsulosin on storage symptoms and detrusor motor activity in patients with LUTS suggestive of BPH and relevant storage symptoms
- Trial name
- NCT02245490
- Testing
- Tamsulosin HCl controlled release capsules
- Volunteers
- 153 people
- Sponsor
- Boehringer Ingelheim
Mycoses
Validation of Pathologic Diagnosis of Invasive Fungal Infection by Molecular Method
1. Isolate fungal DNA(Deoxyribonucleic acid) from paraffin-fixed tissue specimens to distinguish and compare Aspergillus species to the existing optical pathological diagnosis. 2. PCR(polymerase chain reaction) validation. 3.
- Trial name
- NCT02676570
- Volunteers
- 50 people
- Sponsor
- Seoul St. Mary's Hospital
Parkinson Disease, Gaucher Disease
Biomarker Analysis for GBA Associated Parkinson's Disease
The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in…
- Trial name
- NCT03811496
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Cystinosis
Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT00872729
- Testing
- Cystagon®, RP103
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Amgen
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