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Results for “Congenital Disorder of Glycosylation”

22 trials

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Showing 20 of 22 results

Testing effectiveness (Phase 2)Study completedNCT03354533
What this trial is testing

Study of ORL-1F (L-fucose) in Patients With Leukocyte Adhesion Deficiency Type II

Who this might be right for
Leukocyte Adhesion Deficiency, Type II
Orpha Labs 4
Large-scale testing (Phase 3)Ended earlyNCT04679389
What this trial is testing

Acetazolamide Efficacy in Ataxia in PMM2-CDG

Who this might be right for
Pmm2-CDGCDG1A
Mayo Clinic 25
Not applicableLooking for participantsNCT02089789
What this trial is testing

Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

Who this might be right for
Congenital Disorders of Glycosylation
National Human Genome Research Institute (NHGRI) 200
Not applicableStudy completedNCT03560570
What this trial is testing

Study of Hemostasis in Patients With Congenital Disorder of Glycosylation

Who this might be right for
Congenital Disorders of Glycosylation
Assistance Publique - Hôpitaux de Paris 57
Not applicableLooking for participantsNCT01403402
What this trial is testing

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Who this might be right for
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) DeficiencyAlpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations)+49 more
Cure CMD
Large-scale testing (Phase 3)Ended earlyNCT04925960
What this trial is testing

Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG

Who this might be right for
Pmm2-CDGPhosphomannomutase 2 DeficiencyPhosphomannomutase 2 Congenital Disorder of Glycosylation+2 more
Maggie's Pearl, LLC 42
Post-approval studies (Phase 4)UnknownNCT01184599
What this trial is testing

A Prospective Study of the Kidney Protective Effect of Aliskiren in Hypertensive Patients With IgA Nephropathy

Who this might be right for
Glomerulonephritis, IGAHypertension
Kagawa University 30
Testing effectiveness (Phase 2)Enrolling By InvitationNCT06657859
What this trial is testing

Open-Label Extension Study to Assess GLM101 in PMM2-CDG Patients

Who this might be right for
Pmm2-CDGPhosphomannomutase 2 Deficiency
Glycomine, Inc. 90
Testing effectiveness (Phase 2)UnknownNCT03404869
What this trial is testing

Study of ORL-1M (D-mannose) in Patients With CDG-Ib

Who this might be right for
CDG Ib
Orpha Labs 5
Not applicableUnknownNCT04833322
What this trial is testing

Galactose Supplementation for the Treatment of MOGHE

Who this might be right for
Refractory EpilepsySLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation
Hospital Ruber Internacional 8
Not applicableActive Not RecruitingNCT03173300
What this trial is testing

Natural History Study Protocol in PMM2-CDG (CDG-Ia)

Who this might be right for
Phosphomannomutase 2 Deficiency
Glycomine, Inc. 120
Testing effectiveness (Phase 2)Study completedNCT05549219
What this trial is testing

24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants With PMM2-CDG

Who this might be right for
Pmm2-CDGPhosphomannomutase 2 Deficiency
Glycomine, Inc. 27
Not applicableStudy completedNCT04201067
What this trial is testing

Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

Who this might be right for
Congenital Disorders of Glycosylation
Mayo Clinic 240
Testing effectiveness (Phase 2)Not Yet RecruitingNCT05402332
What this trial is testing

Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)

Who this might be right for
PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation
Eva Morava-Kozicz 8
Not applicableEnrolling By InvitationNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Not applicableStudy completedNCT04198987
What this trial is testing

Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation

Who this might be right for
Congenital Disorder of Glycosylation
Mayo Clinic 20
Large-scale testing (Phase 3)Active Not RecruitingNCT06892288
What this trial is testing

Assess the Efficacy and Safety of Weekly Doses of GLM101 in Participants With PMM2-CDG

Who this might be right for
Phosphomannomutase 2 DeficiencyPMM2-CDG
Glycomine, Inc. 50
Not applicableStudy completedNCT03250728
What this trial is testing

Role of the Endothelium in Stroke-like Episode Among CDG Patients

Who this might be right for
Congenital Disorders of Glycosylation
Assistance Publique - Hôpitaux de Paris 6
Not applicableUnknownNCT02503267
What this trial is testing

"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"

Who this might be right for
Congenital Heart DiseasesConotruncal DefectsCongenital Disorder of Glycosylation+1 more
Hospital Universitari Vall d'Hebron Research Institute 300
Testing effectiveness (Phase 2)Not Yet RecruitingNCT05402384
What this trial is testing

AVTX-801 D-galactose Supplementation in SLC35A2-CDG

Who this might be right for
SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation
Eva Morava-Kozicz 10
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