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Results for “Rare Abnormalities”

404 trials

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Showing 20 of 404 results

Post-approval studies (Phase 4)Study completedNCT01250951
What this trial is testing

This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload.

Who this might be right for
Myelodysplastic SyndromeThalassemia
Novartis Pharmaceuticals 111
Not applicableUnknownNCT00006393
What this trial is testing

Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis

Who this might be right for
Systemic Sclerosis
National Center for Research Resources (NCRR) 80
Not applicableLooking for participantsNCT06782230
What this trial is testing

ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria

Who this might be right for
Creation of an Italian Network of Biobanks of Rare Diseases
IRCCS Policlinico S. Donato 800
Not applicableUnknownNCT05955794
What this trial is testing

Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes

Who this might be right for
Rare DiseasesCongenital Disorders
Fondazione Policlinico Universitario Agostino Gemelli IRCCS 500
Large-scale testing (Phase 3)Study completedNCT00004339
What this trial is testing

Study of Tetrathiomolybdate in Patients With Wilson Disease

Who this might be right for
Wilson Disease
National Center for Research Resources (NCRR) 90
Not applicableEnded earlyNCT00004345
What this trial is testing

Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome

Who this might be right for
Usher SyndromeRetinitis Pigmentosa
National Center for Research Resources (NCRR) 100
Not applicableStudy completedNCT03713151
What this trial is testing

Feasibility of a Blended Therapy Approach

Who this might be right for
TelemedicineExerciseFeasibility+2 more
University of Zurich 30
Large-scale testing (Phase 3)Study completedNCT00004829
What this trial is testing

Phase III Randomized Study of the Inhalation of Tobramycin in Patients With Cystic Fibrosis

Who this might be right for
Cystic FibrosisBacterial Infection
FDA Office of Orphan Products Development 200
Not applicableEnrolling By InvitationNCT05368038
What this trial is testing

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Who this might be right for
Acid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous Xanthomatosis+11 more
Albert Einstein College of Medicine 100,000
Testing effectiveness (Phase 2)Active Not RecruitingNCT02978625
What this trial is testing

Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers

Who this might be right for
Anaplastic Large Cell Lymphoma, ALK-NegativeAnaplastic Large Cell Lymphoma, ALK-PositiveApocrine Carcinoma+36 more
National Cancer Institute (NCI) 68
Not applicableUnknownNCT00004341
What this trial is testing

Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Who this might be right for
X-Linked AgammaglobulinemiaX-Linked Hyper IgM SyndromeWiskott-Aldrich Syndrome+1 more
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Not applicableEnrolling By InvitationNCT06938542
What this trial is testing

Palliative Care Needs of Children With Rare Diseases and Their Families

Who this might be right for
Trisomy 13 SyndromeArthrogryposis Congenita Multiplex With Intestinal AtresiaAsparagine Synthetase Deficiency+16 more
Children's National Research Institute 480
Not applicableStudy completedNCT05245123
What this trial is testing

Psychosocial Situation of Children With Rare Solid Abdominal Tumors and Their Families

Who this might be right for
NeuroblastomaNephroblastomaHepatoblastoma
Universitätsklinikum Hamburg-Eppendorf 100
Not applicableUnknownNCT03873285
What this trial is testing

Method of Genetic Analysis in Genodermatoses

Who this might be right for
GenodermatosisRare Genetic Disease With Cutaneous Expression
Queen Fabiola Children's University Hospital 100
Not applicableUnknownNCT00006272
What this trial is testing

Study of Energy Expenditure in Infants With Ventricular Septal Defects

Who this might be right for
Heart Septal Defects, Ventricular
National Center for Research Resources (NCRR) 20
Not applicableLooking for participantsNCT04586075
What this trial is testing

UW Undiagnosed Genetic Diseases Program

Who this might be right for
Rare DiseasesGenetic DiseaseUndiagnosed Disease
University of Wisconsin, Madison 500
Not applicableStudy completedNCT00004312
What this trial is testing

Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis

Who this might be right for
Cystinosis
National Center for Research Resources (NCRR) 400
Testing effectiveness (Phase 2)UnknownNCT00004315
What this trial is testing

Phase II Pilot Study to Compare the Bioavailability of Buffered, Enteric-Coated Ursodiol With Unmodified Ursodiol for Chronic Cholestatic Liver Disease and Cystic Fibrosis-Associated Liver Disease

Who this might be right for
Cystic FibrosisGastrointestinal DiseasesCholestasis
National Center for Research Resources (NCRR) 20
Early research (Phase 1)Study completedNCT00004806
What this trial is testing

Phase I Study of Liposome-Mediated Gene Transfer in Patients With Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
University of Alabama at Birmingham 9
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
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