Clinical trials: Storage Disease
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a programmable ambulation exoskeleton (KeeogoTM Dermoskeleton System, B-Temia Inc., Quebec, Canada) in patients with…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-KGO1 (NCT05199246)
- Testing
- Lower-limb powered dermoskeleton
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Inherited Metabolic Storage Diseases
Monoclonal Antibody Conditioning for Allogeneic Stem Cell Transplantation of Patients With Inherited Metabolic Storage Diseases
This study treats patients with an inherited disease that prevents the body from making a specific protein or enzyme needed for the body's metabolism.
- Trial name
- NCT00056979
- Testing
- CAMPATH-1H, Anti-CD45, FK506
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Baylor College of Medicine
Adrenoleukodystrophy
Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the efficacy of interferon beta and thalidomide in male patients with adrenoleukodystrophy who show evidence of brain inflammatory response and are receiving concurrent glyceryl trierucate and glyceryl…
- Trial name
- NCT00004450
- Testing
- glyceryl trierucate, glyceryl trioleate, interferon beta
- Volunteers
- 60 people
- Sponsor
- FDA Office of Orphan Products Development
MPS IIIB
Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B)
The primary objectives of this study are to evaluate the effects of Tralesinidase Alfa (TA) on cognition
- Trial name
- TrAnsform (NCT07579910)
- Testing
- Tralesinidase alfa (TA)
- Volunteers
- 14 people
- Sponsor
- Spruce Biosciences
Gaucher Disease
Survey Study for Velaglucerase Alfa (VPRIV) in Japan
The objective of this post-marketing survey study is to collect data to determine the safety and efficacy of velaglucerase alfa (VPRIV) in participants with Gaucher disease who are new to therapy or have been switched from…
- Trial name
- NCT03625882
- Where
- 35 sites in Japan
- Volunteers
- 63 people
- Sponsor
- Takeda
Liver Failure, End Stage Liver Disease
Dual Hypothermic Oxygenated Perfusion of DCD Liver Grafts in Preventing Biliary Complications After Transplantation
Rationale: Recent publications report good results of controlled donation after circulatory death (DCD) Maastricht category III liver transplantation when strict donor-recipient matching is applied and ischemia times are kept to…
- Conditions
- Liver Failure, End Stage Liver Disease, Biliary Tract Diseases
- Trial name
- DHOPE-DCD (NCT02584283)
- Testing
- Dual hypothermic oxygenated perfusion, Liver Assist®, Perfusion fluid
- Where
- 6 sites in Belgium, Netherlands and 1 more
- Volunteers
- 157 people
- Sponsor
- Robert J. Porte
GM1 Gangliosidoses, GM1 Gangliosidosis, Type I
Prenatal Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Clinical Trial
This is a study for the administration of in utero AAV9 transfer in prenatally diagnosed Type I or Type II GM1.
- Conditions
- GM1 Gangliosidoses, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2
- Trial name
- NCT07479953
- Testing
- Gene Transfer with an AAV9 Vector Expressing Human ß-galactosidase
- Volunteers
- 5 people
- Sponsor
- Tippi Mackenzie
Lysosomal Acid Lipase Deficiency, Obesity
Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
The very low carbohydrates diet (VLCKD) induces liver steatosis amelioration. Lysosomal acid lipase (LAL) deficiency plays a role in fats accumulation in liver. To date, no studies have assessed LAL activity in morbid obesity.
- Conditions
- Lysosomal Acid Lipase Deficiency, Obesity, Ketogenic Dieting, Ketosis
- Trial name
- NCT03564002
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Of Perugia
Pediatric Emergency Medicine, Therapeutic Turnaround Time
Effectiveness of a Mobile App in Reducing Therapeutic TAT in an Emergency Department
This study is a single center, non-equivalent comparison group, pre-post study in a tertiary pediatric emergency department in Switzerland.
- Trial name
- NCT05557331
- Testing
- PIMPmyHospital (mobile app)
- Where
- 2 sites in Switzerland
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Pediatric Clinical Research Platform
Hunter Syndrome
Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
This long-term study will provide Elaprase treatment to children enrolled in this study and will utilize data from both enrolled patients and Hunter Outcome Survey (HOS) patient registry data to conduct the primary growth…
- Trial name
- NCT02455622
- Testing
- Elaprase for intravenous (IV) infusion
- Where
- 8 sites in United States, Dominican Republic and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Sanfilippo Syndrome Type C
Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
- Trial name
- MPSIIIC (NCT05825131)
- Where
- 2 sites in United States, France
- Volunteers
- 30 people
- Sponsor
- Phoenix Nest
Lysosomal Storage Disease, Cholesterol Metabolism
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol.
- Trial name
- NCT00046202
- Where
- United States
- Volunteers
- 344 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
Farber's Lipogranulomatosis, Ceramidase Deficiency
Biomarker for Farber Disease (BioFarber)
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Farber disease from the blood
- Conditions
- Farber's Lipogranulomatosis, Ceramidase Deficiency, Hepatomegaly, Splenomegaly
- Trial name
- BioFarber (NCT02298634)
- Where
- 3 sites in Egypt, Germany and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
SIOD, Cystinosis
Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From the Same Donor
This is a single center, non-randomized, non-controlled open-label phase 1b/2a trial of performing sequential αβdepleted-HSCT and KT in patients requiring KT to prevent kidney rejection post-KT, in the absence of any post-KT…
- Conditions
- SIOD, Cystinosis, FSGS, SLE Nephritis
- Trial name
- NCT05508009
- Testing
- Cyclophosphamide 1200 mg/Kg, Fludarabine, Cyclophosphamide 100 mg/Kg
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Alice Bertaina
Glycogen Storage Disease, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Fabry Disease, End Stage Renal Disease
Study of the Prevalence of Fabry Disease in French Dialysis Patients
Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency.
- Conditions
- Fabry Disease, End Stage Renal Disease, Renal Dialysis
- Trial name
- FABRYDIAL (NCT02843334)
- Testing
- Dried blood spot (DBS) sampling
- Where
- 5 sites in France
- Volunteers
- 6,000 people
- Sponsor
- Hospices Civils de Lyon
Gaucher Disease Type 1
Comparison of BMD Measurement by DEXA to BeamMed Speed-of-Sound Measurement at Forearm in Patients With Gaucher Disease
The purpose of this study is to compare the accuracy and comparability and secondarily to assess the values achieved by measurement of the forearm BMD by DXA and SOS by BeamMed, relative to standard DXA evaluations at the FN and…
- Trial name
- NCT02067247
- Testing
- BeamMed Speed-of-Sound bone strength test at forearm
- Where
- Israel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
Iron Deficiency
Effects of Iron Supplementation on Skeletal Muscle Properties in Females With Suboptimal Iron Storage
The goal of this clinical trial is to learn whether oral iron supplementation will increase skeletal muscle iron storage and its effects on exercise capacity in females with suboptimal iron status.
- Trial name
- MyoIRON (NCT07084298)
- Testing
- Oral iron supplement
- Where
- Canada
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Calgary
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