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Results for “Genetic Rare Disease”

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Showing 20 of 0 results

Not applicableStudy completedNCT00014781
What this trial is testing

Study of Hepatic Glucose Production and De Novo Lipogenesis in Patients With Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
University of Utah 39
Not applicableNot Yet RecruitingNCT07680751
What this trial is testing

European Cystinosis Cohort 2

Who this might be right for
Cystinosis
Institut National de la Santé Et de la Recherche Médicale, France 250
Testing effectiveness (Phase 2)Study completedNCT01573754
What this trial is testing

Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda

Who this might be right for
Porphyria Cutanea Tarda
The University of Texas Medical Branch, Galveston 48
Not applicableUnknownNCT00951886
What this trial is testing

The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally

Who this might be right for
Ataxia Telangiectasia
Sheba Medical Center 28
Not applicableWithdrawnNCT03649919
What this trial is testing

Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children

Who this might be right for
XlsmaDMDX-ALD+1 more
Children's Hospital of Fudan University
Not applicableStudy completedNCT03380819
What this trial is testing

The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

Who this might be right for
Rare DiseasesGenetic Disease
VA Boston Healthcare System 2
Not applicableStudy completedNCT00005892
What this trial is testing

Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia

Who this might be right for
Fanconi's AnemiaMyelodysplastic SyndromesLeukemia, Nonlymphocytic, Acute+1 more
Fairview University Medical Center
Not applicableLooking for participantsNCT06478121
What this trial is testing

Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)

Who this might be right for
Diabetes MellitusMonogenic DiabetesHyperinsulinism
University of Exeter 50
Not applicableStudy completedNCT00004773
What this trial is testing

Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome

Who this might be right for
Rett Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 95
Not applicableUnknownNCT01954953
What this trial is testing

Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe

Who this might be right for
Usher Syndrome
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts 100
Not applicableStudy completedNCT06225141
What this trial is testing

Characterization and Recognition of Genetic Diseases by Photography

Who this might be right for
DysmorphologyOrphan Diseases
Imagine Institute 935
Not applicableStudy completedNCT00004306
What this trial is testing

Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

Who this might be right for
Hereditary Ataxia
Office of Rare Diseases (ORD) 18
Early research (Phase 1)Study completedNCT00004294
What this trial is testing

Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease

Who this might be right for
Gaucher's Disease
National Center for Research Resources (NCRR) 15
Testing effectiveness (Phase 2)Active Not RecruitingNCT06314490
What this trial is testing

Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

Who this might be right for
Genetic Disease
University of California, San Diego 1
Not applicableLooking for participantsNCT05990179
What this trial is testing

Genomic Uniformed-Screening Against Rare Disease In All Newborns

Who this might be right for
Early Onset Genetic Conditions With Near Complete Penetrance
Columbia University 100,000
Not applicableLooking for participantsNCT07102966
What this trial is testing

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

Who this might be right for
Rare Diseases
Baylor College of Medicine 410
Not applicableStudy completedNCT00004753
What this trial is testing

Long-Term Study of Cerebral Glucose Metabolism in Huntington's Disease

Who this might be right for
Huntington's Disease
National Center for Research Resources (NCRR) 90
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 applicableNot Yet RecruitingNCT07799792
What this trial is testing

Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada

Who this might be right for
Evaluation of Mainstreamed Models of Genetic Service DeliveryGenetic DiseaseNeurodevelomental Disorders
The Hospital for Sick Children 100
Not applicableLooking for participantsNCT03161808
What this trial is testing

Rare CFTR Mutation Cell Collection Protocol (RARE)

Who this might be right for
Cystic Fibrosis
George Solomon 500
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