Clinical trials: Storage Disease
PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation
Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)
This is a clinical trial to evaluate the efficacy of AVTX-801 (D-galactose) on the clinical manifestations of PGM1-CDG in participants currently taking D-galactose.
- Trial name
- AVTX-801 (NCT05402332)
- Testing
- AVTX-801
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Eva Morava-Kozicz
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Postoperative Complication, Recovery, Physiological
Assessment of the Impact of Intestinal Gas Emission Quality on the Postoperative Course After Abdominal Surgery
The recovery of transit after surgery is an important parameter in postoperative evaluation. It generally reflects simple postoperative outcomes and allows the patient to return home.
- Trial name
- FLATQUAL (NCT06675097)
- Where
- 2 sites in France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Angers
Traumatic Brain Injury
Cold-stored Platelet Early Intervention in TBI
The Cold Stored Platelet Early Intervention in Traumatic Brain Injury (CriSP-TBI) trial is a proposed 3 year, open label, single center, randomized trial designed to determine the feasibility, efficacy, and safety of urgent…
- Trial name
- CriSP-TBI (NCT04726410)
- Testing
- Cold Stored Platelets, Standard Care
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Jason Sperry
Pompe Disease
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using…
- Trial name
- NCT01665326
- Testing
- Observational
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Duke University
Patients Waiting for a Liver Transplant.
Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholesterol esters and triglycerides.
- Trial name
- LALTH-1 (NCT02852304)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Hospices Civils de Lyon
Gaucher Disease, Type 3
High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)
Type: Prospective, open-label, single center study Duration: 6 months with an optional 12-month extension phase Participants: 12 pediatric patients diagnosed with type III Gaucher disease (GD3) aged ≥3 to ≤18 years old treatment…
- Trial name
- NCT07285369
- Testing
- Ambroxol
- Where
- Pakistan
- Volunteers
- 12 people
- Sponsor
- Agyany Pharma LTD
Fabry Disease
This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.
This study is designed to evaluate safety and PK/PD in Canadian Fabry patients.
- Trial name
- NCT01304277
- Testing
- agalsidase alfa
- Where
- 5 sites in Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Pompe's Disease
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the…
- Trial name
- DEPIPOMP1 (NCT02904395)
- Testing
- observational (no intervention)
- Volunteers
- 3,413 people
- Sponsor
- Centre Hospitalier de Cayenne
Fabry's Disease
Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
The purpose of this study is to evaluate the impact of ERT on LV diastolic function and flow in patients with Fabry's cardiomyopathy using diastolic stress echocardiography, LV vortex flow and CMR.
- Trial name
- NCT02469181
- Where
- South Korea
- Volunteers
- 20 people
- Sponsor
- Yonsei University
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
MPS VI
Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02
There is limited information on the long-term effects of treating patients with MPS VI with Naglazyme® and limited data on the natural history of treated and untreated MPS VI patients.
- Trial name
- NCT01387854
- Where
- 7 sites in United States, Australia and 5 more
- Volunteers
- 59 people
- Sponsor
- BioMarin Pharmaceutical
Dementia, Mild, Depression
Decision Making Tool for Firearm Storage
This is a one-arm pilot study testing the feasibility and acceptability of a decision aid about safe firearm storage.
- Trial name
- NCT06382194
- Testing
- Decision aid
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Washington
Gene Insertions, Gene Deletion
Gene Biobank of Sports Injuries
Preserve biological samples and gene extracts of all sports medicine-related diseases. To study related gene mutation sites and regulation. To study related molecular mechanisms and signaling pathways.
- Trial name
- NCT04997629
- Where
- China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
Pompe Disease
The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease
The purpose of the study is to determine if respiratory muscle strength training will be beneficial for inspiratory and expiratory muscle strength in adults and children with Pompe disease.
- Trial name
- NCT01701154
- Testing
- respiratory muscle strength training
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Duke University
Glycogen Storage Disease Type II
Respiratory Muscle Training in L-Onset Pompe Disease (LOPD)
This study is being done to test the effects of respiratory muscle training (RMT) in patients with late-onset Pompe Disease (LOPD) who have weakness of their breathing muscles.
- Trial name
- NCT02801539
- Testing
- RMT therapy using modified RMT device
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Fabry Disease
Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
- Trial name
- NCT00925301
- Testing
- migalastat hydrochloride
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 67 people
- Sponsor
- Amicus Therapeutics
Atherosclerosis, Intermittent Claudication
Does the Reduction of Total Body Iron Storage (TBIS) Alter Mortality in a Population of Patients With Advanced PVD?
Veterans Affairs Cooperative Study #410, The Iron and Atherosclerosis Trial, FeAST, a 24-hospital prospective randomized single-blinded clinical trial of graded iron reduction was conducted between May 1, 1999 and April 30, 2005…
- Conditions
- Atherosclerosis, Intermittent Claudication, Peripheral Vascular Diseases
- Trial name
- FeAST (NCT00032357)
- Testing
- Ferritin reduction to 25 ng/ml by phlebotomy
- Where
- 24 sites in United States, Puerto Rico
- Volunteers
- 1,277 people, healthy volunteers welcome
- Sponsor
- US Department of Veterans Affairs
Fabry Disease
Neuropathic Pain and Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other…
- Trial name
- NCT00168974
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Danish Pain Research Center
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
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