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Results for “Genetic Rare Disease”

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Showing 20 of 0 results

Not applicableUnknownNCT03347591
What this trial is testing

Rare Bleeding Disorders in the Netherlands

Who this might be right for
Rare Bleeding Disorders
Radboud University Medical Center 300
Not applicableStudy completedNCT00007033
What this trial is testing

Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease

Who this might be right for
Alagille SyndromeCholestasisBiliary Atresia
National Center for Research Resources (NCRR) 25
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 applicableUnknownNCT03683966
What this trial is testing

MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study

Who this might be right for
Rare DiseasesFabry DiseaseAdherence, Medication+1 more
Wuerzburg University Hospital 30
Not applicableEnded earlyNCT00004442
What this trial is testing

Study of Bile Acids in Patients With Peroxisomal Disorders

Who this might be right for
Infantile Refsum's DiseaseZellweger SyndromeBifunctional Enzyme Deficiency+1 more
University of Cincinnati 25
Not applicableStudy completedNCT00004788
What this trial is testing

Study of Nutritional Factors in Porphyria

Who this might be right for
Porphyria
National Center for Research Resources (NCRR) 30
Not applicableLooking for participantsNCT06795152
What this trial is testing

Rare Glycogen Storage Diseases Natural History Study

Who this might be right for
Glycogen Storage DiseaseGSD Type 0AGSD Type 0B+12 more
Duke University 200
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 applicableLooking for participantsNCT07575347
What this trial is testing

Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)

Who this might be right for
Periodontal DiseasePeriodontitisCKD+6 more
Stefan Lujinschi 100
Testing effectiveness (Phase 2)Study completedNCT02056665
What this trial is testing

Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome

Who this might be right for
Angelman Syndrome
Puerta de Hierro University Hospital 32
Not applicableStudy completedNCT00006130
What this trial is testing

Decompression Coring Versus Conservative Therapy in Patients With Avascular Necrosis of the Hip Related to Sickle Cell Disease

Who this might be right for
Bone Avascular NecrosisSickle Cell Anemia
UCSF Benioff Children's Hospital Oakland 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 applicableLooking for participantsNCT06353620
What this trial is testing

Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy

Who this might be right for
EpilepsyAngelman SyndromeDup15q Syndrome
IRCCS Eugenio Medea 120
Not applicableStudy completedNCT05712564
What this trial is testing

Fatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: Survey

Who this might be right for
Rare DiseasesFatigueInsomnia+1 more
IRCCS Policlinico S. Donato 282
Not applicableLooking for participantsNCT06360913
What this trial is testing

Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases

Who this might be right for
Inborn Errors of MetabolismRare Diseases
Cliniques universitaires Saint-Luc- Université Catholique de Louvain 2,286
Not applicableStudy completedNCT00005893
What this trial is testing

Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders

Who this might be right for
NeutropeniaSickle Cell AnemiaThalassemia Major+1 more
Fairview University Medical Center
Not applicableStudy completedNCT00006142
What this trial is testing

Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria

Who this might be right for
Phenylketonuria
National Center for Research Resources (NCRR)
Not applicableLooking for participantsNCT01087320
What this trial is testing

Genome Medical Sequencing for Gene Discovery

Who this might be right for
Intellectual DisabilitiesCongenital AnomalyRare Disorders
National Human Genome Research Institute (NHGRI) 2,000
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 participantsNCT05868629
What this trial is testing

Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors

Who this might be right for
Rare Unresectable or Metastatic BRAF V600E Mutation-positive Solid Tumors
Novartis Pharmaceuticals 40
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