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Results for “Genetic Rare Disease”

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Showing 20 of 0 results

Not applicableUnknownNCT06539169
What this trial is testing

FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

Who this might be right for
Alpha-ThalassemiaBeta-ThalassemiaAmyloidosis+14 more
xCures 1,000
Not applicableLooking for participantsNCT03056794
What this trial is testing

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency Disease
University of Pittsburgh 150
Not applicableStudy completedNCT00004831
What this trial is testing

Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria

Who this might be right for
Erythropoietic Protoporphyria
FDA Office of Orphan Products Development 20
Testing effectiveness (Phase 2)Study completedNCT00872729
What this trial is testing

Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis

Who this might be right for
Cystinosis
Amgen 9
Not applicableLooking for participantsNCT05031507
What this trial is testing

Study of Skeletal Disorders

Who this might be right for
Skeletal Disorders
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 100
Large-scale testing (Phase 3)Ended earlyNCT04221451
What this trial is testing

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2

Who this might be right for
Tay-Sachs DiseaseSandhoff Disease
Genzyme, a Sanofi Company 75
Not applicableWithdrawnNCT06227429
What this trial is testing

A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients

Who this might be right for
Hereditary Tyrosinemia, Type I
Swedish Orphan Biovitrum
Early research (Phase 1)UnknownNCT00004307
What this trial is testing

Study of Treatment and Metabolism in Patients With Urea Cycle Disorders

Who this might be right for
Amino Acid Metabolism, Inborn Errors
National Center for Research Resources (NCRR) 66
Not applicableStudy completedNCT01938014
What this trial is testing

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Who this might be right for
Mucopolysaccharidosis Type I (MPS I)Mucopolysaccharidosis Type II (MPS II)Mucopolysaccharidosis Type III (MPS III)+2 more
University of Chicago 19
Testing effectiveness (Phase 2)Study completedNCT00004688
What this trial is testing

Phase II Study of Carmustine, Streptozocin, and Mercaptopurine for Refractory or Recurrent Brain Neoplasms

Who this might be right for
Anaplastic AstrocytomaAnaplastic OligodendrogliomaMixed Gliomas+2 more
Emory University 35
Large-scale testing (Phase 3)Study completedNCT04966741
What this trial is testing

Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity

Who this might be right for
Bardet-Biedl SyndromePOMC Deficiency ObesityPCSK1 Deficiency Obesity+1 more
Rhythm Pharmaceuticals, Inc. 12
Not applicableLooking for participantsNCT02471287
What this trial is testing

Genetics of Inherited Eye Disease

Who this might be right for
Genetic Eye Disease
National Eye Institute (NEI) 1,500
Testing effectiveness (Phase 2)Study completedNCT00004493
What this trial is testing

Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia

Who this might be right for
Lactic Acidosis
University of California, San Diego 75
Testing effectiveness (Phase 2)Study completedNCT01761292
What this trial is testing

Assess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMD

Who this might be right for
Duchenne Muscular Dystrophy (DMD)
Italfarmaco 20
Not applicableStudy completedNCT06935578
What this trial is testing

RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)

Who this might be right for
CADASILCADASIL (Diagnosis)Moya Moya Disease+5 more
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 500
Testing effectiveness (Phase 2)Study completedNCT05358717
What this trial is testing

Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)

Who this might be right for
Huntington Disease
Novartis Pharmaceuticals 159
Not applicableLooking for participantsNCT02543996
What this trial is testing

Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)

Who this might be right for
Undiagnosed DiseasesCardiovascular Disease
National Heart, Lung, and Blood Institute (NHLBI) 10,000
Early research (Phase 1)Looking for participantsNCT07776626
What this trial is testing

Phase I Exploratory Study of YOLT-203 in Patients With Primary Hyperoxaluria Type 1 (PH1)

Who this might be right for
Primary Hyperoxaluria Type 1PH1
YolTech Therapeutics Co., Ltd 9
Large-scale testing (Phase 3)Study completedNCT00004376
What this trial is testing

Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder

Who this might be right for
Tourette Syndrome
National Center for Research Resources (NCRR) 35
Not applicableLooking for participantsNCT04398628
What this trial is testing

ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders

Who this might be right for
Hematologic DisorderBleeding DisorderConnective Tissue Disorder+10 more
American Thrombosis and Hemostasis Network 3,000
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