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Results for “Carbohydrate Metabolism, Inborn Errors”

712 trials

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Showing 20 of 712 results

Early research (Phase 1)Study completedNCT02262338
What this trial is testing

Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome

Who this might be right for
Mucopolysaccharidosis II
ArmaGen, Inc 6
Testing effectiveness (Phase 2)Study completedNCT03350451
What this trial is testing

An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1

Who this might be right for
PH1Primary HyperoxaluriaRNAi Therapeutic+2 more
Alnylam Pharmaceuticals 20
Not applicableStudy completedNCT03292887
What this trial is testing

Hunter Outcome Survey (HOS)

Who this might be right for
Hunter Syndrome
Shire 1,443
Not applicableStudy completedNCT07037706
What this trial is testing

Use of Macrolides in Acute Chest Syndrome: A Multicenter Retrospective Study

Who this might be right for
Sickle Cell DiseaseAcute Chest SyndromeGlucose-6-Phosphate Dehydrogenase Deficiency+2 more
Centre Hospitalier de Saint-Denis 250
Not applicableStudy completedNCT05083806
What this trial is testing

MSOT in Pompe Disease

Who this might be right for
Pompe DiseasePompe Disease (Late-onset)Pompe's Disease Juvenile Onset+1 more
University of Erlangen-Nürnberg Medical School 20
Testing effectiveness (Phase 2)Study completedNCT03819647
What this trial is testing

Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria

Who this might be right for
Primary Hyperoxaluria
Biocodex 15
Large-scale testing (Phase 3)Looking for participantsNCT07236606
What this trial is testing

RGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome)

Who this might be right for
MPS IIHunter Syndrome (MPS II)
REGENXBIO Inc. 2
Not applicableLooking for participantsNCT03305835
What this trial is testing

Monogenic Kidney Stone - Genetic Testing

Who this might be right for
Rare Kidney Stone Diseases
Mayo Clinic 6,000
Not applicableEnded earlyNCT01733615
What this trial is testing

Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA

Who this might be right for
Mucopolysaccharidosis Type IVA
Emory University 3
Not applicableLooking for participantsNCT06813443
What this trial is testing

Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation

Who this might be right for
CardiomyopathiesAmyloidosis CardiacFabry Disease+14 more
IRCCS Azienda Ospedaliero-Universitaria di Bologna 700
Large-scale testing (Phase 3)Study completedNCT01415427
What this trial is testing

Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)

Who this might be right for
Mucopolysaccharidosis IV AMorquio A SyndromeMPS IVA
BioMarin Pharmaceutical 173
Not applicableUnknownNCT05272969
What this trial is testing

Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease

Who this might be right for
Pompe Disease (Late-onset)Inclusion Body MyositisSpinal Muscular Atrophy Type 3+1 more
LMU Klinikum 95
Testing effectiveness (Phase 2)Ended earlyNCT04990388
What this trial is testing

Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III)

Who this might be right for
Glycogen Storage Disease Type III
Ultragenyx Pharmaceutical Inc 9
Not applicableStudy completedNCT01626092
What this trial is testing

Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders

Who this might be right for
Lysosomal Storage DiseasePeroxisomal Disorder
Masonic Cancer Center, University of Minnesota 3
Not applicableStudy completedNCT03008252
What this trial is testing

Lactose Intolerance and Cow's Milk Protein Allergy in Non-celiac Wheat Sensitivity Patients

Who this might be right for
Non-celiac Wheat Sensitivity
University of Palermo 300
Testing effectiveness (Phase 2)Active Not RecruitingNCT05845749
What this trial is testing

Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI

Who this might be right for
MPS IVAMPS VI
University of California, San Francisco 6
Not applicableStudy completedNCT03528031
What this trial is testing

Habitual Diet and Avocado Trial

Who this might be right for
Intra-abdominal FatMetabolic SyndromeHigh Cholesterol+11 more
Wake Forest University Health Sciences 1,008
Not applicableStudy completedNCT05523206
What this trial is testing

A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)

Who this might be right for
Mucopolysaccharidosis III-A
Sanguine Biosciences 15
Not applicableEnrolling By InvitationNCT06103487
What this trial is testing

Long Term Follow-Up for RGX-111

Who this might be right for
Mucopolysaccharidosis I
REGENXBIO Inc. 7
Not applicableStudy completedNCT01705171
What this trial is testing

Is the Expression of the GLUT5 Specific Fructose Transport Protein Abnormal in Patients With Fructose Intolerance?

Who this might be right for
Irritable Bowel SyndromeFructose Intolerance
Brain-Gut Research Group 26
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