Clinical trials: Storage Disease
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
Fabry Disease
Replagal Enzyme Replacement Therapy for Children With Fabry Disease
Primary Objective(s): To assess the safety of Replagal at a dose of 0.2 mg/kg administered over 40 (+/-10) minutes in children with Fabry disease To assess the effect of Replagal on heart rate variability in patients 7 to 17…
- Trial name
- NCT00084084
- Testing
- Agalsidase alfa
- Where
- 14 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Gaucher Disease
Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD)
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
- NCT00258778
- Testing
- Human Glucocerebrosidase (prGCD)
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Protalix
Fabry Disease
A Qualitative Study on the Pain and Quality of Life of Patients With Fabry Disease
Background It is necessary to find out the difficulties experienced by patients with Fabry disease and their families, and to seek solutions for them.
- Trial name
- NCT05679076
- Where
- South Korea
- Volunteers
- 10 people
- Sponsor
- Yonsei University
Fabry Disease, Nephropathy
Screening for Fabry Disease in Renal Transplantation
Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic…
- Trial name
- DEFYT (NCT03886714)
- Testing
- Screening for Fabry disease, Screen for α-galactosidase mutation
- Where
- France
- Volunteers
- 592 people
- Sponsor
- University Hospital, Montpellier
High Altitude, Inhalation; Gas
Effect of Inhalation of Low Dose CO2 on Exercise Performance at High Altitude
High altitude (>2400 m) is associated with decreased atmosphere pressure leading to hypoxia which in turn impairs exercise capacity and causes acute mountain sickness (AMS).
- Conditions
- High Altitude, Inhalation; Gas, Acute Mountain Sickness
- Trial name
- NCT05798416
- Testing
- Exercise under inhalation CO2, Exercise under inhalation ambient air
- Where
- China
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- State Key Laboratory of Respiratory Disease
Splenomegaly, Hepatomegaly
Biomarker for Gaucher Disease: BioGaucher (BioGaucher)
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)
- Trial name
- BioGaucher (NCT01331642)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Fabry Disease
A Study of Migalastat in Fabry Disease
Fabry disease is a rare metabolic condition characterised by the widespread deposition of sphingolipids in multiple organ systems.
- Trial name
- GALAFAB (NCT03949920)
- Testing
- Migalastat
- Where
- 2 sites in United Kingdom
- Volunteers
- 21 people
- Sponsor
- Manchester University NHS Foundation Trust
Gangliosidoses, GM2, Sandhoff Disease
Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)
The objectives of this clinical trial are to assess the safety and tolerability, as well as efficacy, of a stepwise dosing regimen of pyrimethamine, starting at 25 mg/day, given as a single dose daily for 4 weeks in patients…
- Conditions
- Gangliosidoses, GM2, Sandhoff Disease, Tay-Sachs Disease
- Trial name
- NCT01102686
- Testing
- Pyrimethamine, Leucovorin
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- The Hospital for Sick Children
Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency
Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency
This was an extension study to Study LAL-CL01 (NCT01307098). The primary objective of the study was to evaluate the long-term safety and tolerability of sebelipase alfa in participants with liver dysfunction due to lysosomal acid…
- Conditions
- Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
- Trial name
- NCT01488097
- Testing
- sebelipase alfa
- Where
- 10 sites in United States, Canada and 3 more
- Volunteers
- 8 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Healthy Individuals, Diabetes
Heidelberg In Vivo Confocal Microscopy to Evaluate the Ocular Surface Disorders of Healthy and Diseased Individuals
In vivo confocal microscopy (IVCM) has been used in clinical settings for more than 25 years, and is noninvasive, rapid and easily repeatable technique to investigate ocular surface disorders.
- Conditions
- Healthy Individuals, Diabetes, Hypertension, Fabry Disease
- Trial name
- NCT04025801
- Where
- Taiwan
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Lysosomal Storage Disorders, Sandhoff Disease
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Sandhoff Disease, Krabbe Disease, CLN2
- Trial name
- NCT07740512
- Testing
- PLX-200
- Volunteers
- 24 people
- Sponsor
- Polaryx Therapeutics, Inc.
Glycogen Storage Disease Type II, Pompe Disease (Late-onset)
Inspiratory Muscle Training (IMT) in Adult People With Pompe Disease
The goal of this multicentre, randomized and controlled cross-over trial is to evaluate the efficacy of a programme of Inspiratory Muscle Training in subjects with Late On-set Pompe Disease (LOPD).
- Trial name
- LOPD01 (NCT05951790)
- Testing
- Inspiratory Muscle Training (IMT), Inspiratory Muscle Training (IMT) + Air Stacking
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Don Carlo Gnocchi ETS
Gaucher Disease
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function.
- Trial name
- NCT05843552
- Testing
- no intervention
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Minnesota
Bladder Outlet Obstruction
Antimuscarinics as the First-line Treatment for Male With IPSS-V/S≤1
This study is a prospective randomized, open label, controlled, double arm, post-marketing study to compare the treatment efficacy of first-line antimuscarinics and α-blockers monotherapy for men with moderate to severe lower…
- Trial name
- NCT01661621
- Testing
- Detrusitol 4 mg QD, Doxazosin 4 mg QD
- Where
- Taiwan
- Volunteers
- 395 people
- Sponsor
- Buddhist Tzu Chi General Hospital
Hypnotic; Withdrawal State With Delirium, Neurological Disorder
Efficacy of BIS Monitoring in Deep Hypnotic State
Determining the efficacy of the BIS monitor in monitoring deep hypnotic states as well as intra- and post-operative outcomes in neurosurgery patients
- Conditions
- Hypnotic; Withdrawal State With Delirium, Neurological Disorder, Postoperative Delirium, Postoperative Confusion
- Trial name
- NCT06177847
- Testing
- BIS
- Volunteers
- 50 people
- Sponsor
- Universitas Indonesia
Benign Prostatic Hyperplasia, Lower Urinary Tract Symptoms
Research for the Efficacy and Safety of Percutaneous Tibial Nerve Stimulation to Promote Storage Symptoms Postoperative Recovery for Patients With Benign Prostatic Hyperplasia
The goal of this clinical trial is to guide and promote the clinical application of T-PTNS in promoting the postoperative recovery of urinary storage symptoms in patients with BPH.
- Trial name
- NCT06742489
- Testing
- Percutaneous tibial nerve stimulation device
- Volunteers
- 160 people
- Sponsor
- Zhu Yiping
Hemochromatosis, Iron Overload
Iron Overload in African Americans
Iron overload (hemochromatosis) is a condition which causes the intestines to take too much iron into the body from food or pills. The extra iron can build up in the liver, heart, joints, pancreas, sex organs, and other organs.
- Trial name
- NCT00001455
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fabry Disease
Androgenetic Alopecia in Fabry Disease
The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness).
- Trial name
- NCT01295008
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
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