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Results for “Inherited Metabolic Disorders (Inborn Errors of Metabolism)”

3,458 trials

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Showing 20 of 3,458 results

Large-scale testing (Phase 3)Study completedNCT00440986
What this trial is testing

Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis

Who this might be right for
Hereditary Hemochromatosis
San Filippo Neri General Hospital 25
Large-scale testing (Phase 3)Study completedNCT01470989
What this trial is testing

Β-RELIEVED - REsponse in Acute fLare and In prEVEntion of episoDes of Re-flare in Gout - Extension 3 (E3)

Who this might be right for
Acute Gouty Arthritis Flares
Novartis Pharmaceuticals 136
Not applicableStudy completedNCT01358370
What this trial is testing

A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

Who this might be right for
Lysosomal Acid Lipase DeficiencyWolman Disease
Alexion Pharmaceuticals, Inc. 40
Not applicableLooking for participantsNCT06675097
What this trial is testing

Assessment of the Impact of Intestinal Gas Emission Quality on the Postoperative Course After Abdominal Surgery

Who this might be right for
Postoperative ComplicationRecovery, Physiological
University Hospital, Angers 200
Not applicableUnknownNCT06564220
What this trial is testing

Testicular Adrenal Rest Tumor in Congenital Adrenal Hyperplasia Patients Attending Assuit University Children Hospital

Who this might be right for
Testicular Adrenal Rest TumorCongenital Adrenal Hyperplasia
Assiut University 30
Not applicableEnrolling By InvitationNCT06664866
What this trial is testing

AI Echocardiographic Screening of Cardiac Amyloidosis

Who this might be right for
Cardiac Amyloidosis
Cedars-Sinai Medical Center 500
Testing effectiveness (Phase 2)Study completedNCT01380743
What this trial is testing

Drug-drug Interaction Study

Who this might be right for
Pompe Disease
Amicus Therapeutics 25
Not applicableEnded earlyNCT01904708
What this trial is testing

Moderate Intensity Exercise and Phenylketonuria

Who this might be right for
PhenylketonuriaPKU
Oregon Health and Science University 2
Not applicableUnknownNCT04080050
What this trial is testing

A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501

Who this might be right for
Homozygous Familial Hypercholesterolemia (HoFH)
REGENXBIO Inc. 8
Not applicableStudy completedNCT02638220
What this trial is testing

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

Who this might be right for
Cerebrotendinous Xanthomatosis (CTX)
Travere Therapeutics, Inc. 442
Testing effectiveness (Phase 2)Study completedNCT00887562
What this trial is testing

Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes

Who this might be right for
MELAS Syndrome
Michio Hirano 27
Not applicableStudy completedNCT04071561
What this trial is testing

Prevention of Conversion in Posterior Retroperitoneal Adrenalectomy by Measuring Preoperative Anatomical Conditions

Who this might be right for
Adrenal TumorAdrenal MassPheochromocytoma+3 more
University of Basel 14
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
Not applicableApproved For MarketingNCT00074919
What this trial is testing

Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease

Who this might be right for
Glycogen Storage Disease Type IIGlycogenosis 2
Genzyme, a Sanofi Company
Not applicableNot Yet RecruitingNCT07208565
What this trial is testing

Endocrine Dysfunction in Pediatric Wilson's Disease

Who this might be right for
Wilson's Disease
Assiut University 30
Testing effectiveness (Phase 2)Study completedNCT00004767
What this trial is testing

Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders

Who this might be right for
Amino Acid Metabolism, Inborn Errors
National Center for Research Resources (NCRR) 20
Not applicableStudy completedNCT00000665
What this trial is testing

Studies of the Ocular Complications of AIDS (SOCA) CMV Retinitis Trial: Foscarnet-Ganciclovir Component

Who this might be right for
Cytomegalovirus RetinitisHIV Infections
National Institute of Allergy and Infectious Diseases (NIAID) 240
Not applicableUnknownNCT02843334
What this trial is testing

Study of the Prevalence of Fabry Disease in French Dialysis Patients

Who this might be right for
Fabry DiseaseEnd Stage Renal DiseaseRenal Dialysis
Hospices Civils de Lyon 6,000
Post-approval studies (Phase 4)UnknownNCT05305872
What this trial is testing

Gandouling in the Treatment of Wilson's Disease

Who this might be right for
Wilson's Disease
Jun Li 240
Early research (Phase 1)UnknownNCT05969977
What this trial is testing

A First-in-Human Phase 1 Study of Plasmalogen Precursor PPI-1011 in Healthy Adult Volunteers to Assess Safety, Tolerability, and Pharmacokinetics

Who this might be right for
Rhizomelic Chondrodysplasia Punctata
MED-LIFE DISCOVERIES LP 56
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