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Results for “Rare Genetic Disorders”

424 trials

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Showing 20 of 424 results

Testing effectiveness (Phase 2)Study completedNCT00004658
What this trial is testing

Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity

Who this might be right for
5'-Nucleotidase Syndrome
National Center for Research Resources (NCRR)
Not applicableAvailableNCT06931834
What this trial is testing

Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease

Who this might be right for
Mitochondrial DiseaseChronic Kidney Disease
RiboNova Inc.
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
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
Testing effectiveness (Phase 2)Study completedNCT00004485
What this trial is testing

Bone Marrow Transplantation in Treating Children With Sickle Cell Disease

Who this might be right for
Sickle Cell Anemia
Fred Hutchinson Cancer Center 50
Not applicableLooking for participantsNCT06573723
What this trial is testing

Institutional Registry of Rare Diseases

Who this might be right for
Rare DiseasesAmyloidosisSarcoidosis+23 more
Hospital Italiano de Buenos Aires 380
Not applicableUnknownNCT04315727
What this trial is testing

Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings

Who this might be right for
Rare DiseasesGenetic Predisposition to Disease
University Hospital Tuebingen 100
Not applicableStudy completedNCT00007046
What this trial is testing

Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone

Who this might be right for
StenosisHistiocytoma
National Center for Research Resources (NCRR)
Not applicableLooking for participantsNCT06549218
What this trial is testing

Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Who this might be right for
Newborn Screening
University Hospital Freiburg 20,000
Early research (Phase 1)Study completedNCT01048892
What this trial is testing

Seneca Valley Virus-001 and Cyclophosphamide in Treating Young Patients With Relapsed or Refractory Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features

Who this might be right for
Adrenocortical CarcinomaGastrointestinal Carcinoid TumorKidney Cancer+3 more
Children's Oncology Group 22
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
Large-scale testing (Phase 3)Study completedNCT02432144
What this trial is testing

UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)

Who this might be right for
Sly SyndromeMPS VIIMucopolysaccharidosis+1 more
Ultragenyx Pharmaceutical Inc 12
Not applicableLooking for participantsNCT02450851
What this trial is testing

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

Who this might be right for
Genetic Disease
National Human Genome Research Institute (NHGRI) 20,000
Not applicableStudy completedNCT02740153
What this trial is testing

PCORI Urea Cycle Disorder Study

Who this might be right for
Urea Cycle Disorders
Children's National Research Institute 187
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
Not applicableActive Not RecruitingNCT03857594
What this trial is testing

Integrative Sequencing In Germline and Hereditary Tumours

Who this might be right for
Hereditary Cancer SyndromeHigh-RiskMutation+1 more
University Health Network, Toronto 10
Not applicableStudy completedNCT00004356
What this trial is testing

Study of Homocysteine Metabolism in Homocystinuria

Who this might be right for
Homocystinuria
National Center for Research Resources (NCRR) 60
Not applicableStudy completedNCT04157595
What this trial is testing

Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

Who this might be right for
X-Linked Genetic DiseasesAutosomal Recessive Disorder
Murdoch Childrens Research Institute 18,302
Not applicableLooking for participantsNCT07329257
What this trial is testing

Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)

Who this might be right for
Baker Gordon SyndromeRare Neurodevelopmental ConditionsRare Neurogenetic Conditions+6 more
University of Missouri-Columbia 100
Not applicableLooking for participantsNCT01143454
What this trial is testing

Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System

Who this might be right for
Metabolic DiseaseObesityLi-Fraumeni Syndrome+3 more
National Heart, Lung, and Blood Institute (NHLBI) 5,000
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