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Results for “Rare Genetic Disorders”

448 trials

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Showing 20 of 448 results

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 applicableLooking for participantsNCT05007990
What this trial is testing

Caregiving Networks Across Disease Context and the Life Course

Who this might be right for
Inherited Metabolic DisordersUndiagnosed DiseasesBatten's Disease+2 more
National Human Genome Research Institute (NHGRI) 2,800
Not applicableStudy completedNCT00004797
What this trial is testing

Pilot Study of Fructose for Sickle Cell Crisis

Who this might be right for
Sickle Cell Anemia
National Center for Research Resources (NCRR) 20
Post-approval studies (Phase 4)UnknownNCT04419363
What this trial is testing

Burosumab in Children and Adolescents With X-linked Hypophosphatemia

Who this might be right for
Rare DiseasesX-linked Hypophosphatemia
Bicetre Hospital 57
Not applicableStudy completedNCT00006063
What this trial is testing

Randomized Study of Pancrelipase With Bicarbonate (PANCRECARB) Capsules in Reducing Steatorrhea in Patients With Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
National Center for Research Resources (NCRR) 24
Not applicableLooking for participantsNCT07067827
What this trial is testing

Self-questionnaire in Osteoporosis

Who this might be right for
Osteoporosis
CHU de Quebec-Universite Laval 58
Not applicableStudy completedNCT00004761
What this trial is testing

Establishment of the National Epidermolysis Bullosa Registry

Who this might be right for
Epidermolysis Bullosa
National Center for Research Resources (NCRR)
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
Testing effectiveness (Phase 2)Study completedNCT03679598
What this trial is testing

Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency

Who this might be right for
Alpha-1 Antitrypsin Deficiency (AATD)Pi*ZZ, Pi*SZ, Pi*Null, Another Rare Phenotype/Genotype Known to be Associated With Either Low or Functionally Impaired AAT Including F or I MutationsEmphysema or COPD
University of Alabama at Birmingham 63
Testing effectiveness (Phase 2)UnknownNCT00004293
What this trial is testing

Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease

Who this might be right for
Gaucher's Disease
National Center for Research Resources (NCRR) 24
Large-scale testing (Phase 3)Study completedNCT00004402
What this trial is testing

Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis

Who this might be right for
Osteopetrosis
FDA Office of Orphan Products Development 30
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
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)UnknownNCT05659368
What this trial is testing

Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1

Who this might be right for
Wolfram Syndrome
Ospedale San Raffaele 10
Not applicableLooking for participantsNCT07527624
What this trial is testing

Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability

Who this might be right for
Rare Diseases
Imagine Institute 300
Testing effectiveness (Phase 2)Study completedNCT00004393
What this trial is testing

Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome

Who this might be right for
Tourette Syndrome
National Center for Research Resources (NCRR) 50
Testing effectiveness (Phase 2)Study completedNCT02358538
What this trial is testing

Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies

Who this might be right for
Epilepsy
Marinus Pharmaceuticals 30
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
Not applicableStudy completedNCT03954652
What this trial is testing

Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"

Who this might be right for
Rare DiseasesGenetic Predisposition
University Hospital Tuebingen 1,350
Not applicableLooking for participantsNCT02026388
What this trial is testing

Rare Kidney Stone Consortium Biobank

Who this might be right for
Primary HyperoxaluriaDent DiseaseAPRT Deficiency+1 more
Mayo Clinic 2,000
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