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Results for “Recessive Hereditary Disorder (Autosomal)”

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Showing 20 of 0 results

Not applicableEnded earlyNCT02179359
What this trial is testing

Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies

Who this might be right for
Sickle Cell DiseaseTransfusion Dependent Alpha- or Beta- ThalassemiaDiamond Blackfan Anemia+5 more
Masonic Cancer Center, University of Minnesota 38
Large-scale testing (Phase 3)Looking for participantsNCT07419334
What this trial is testing

Study of ALK-001 on the Progression of Stargardt Disease

Who this might be right for
Stargardt Disease
Alkeus Pharmaceuticals, Inc. 230
Not applicableLooking for participantsNCT02720679
What this trial is testing

Investigation of the Genetics of Hematologic Diseases

Who this might be right for
Bone Marrow Failure SyndromesErythrocyte DisorderLeukocyte Disorder+10 more
St. Jude Children's Research Hospital 1,716
Testing effectiveness (Phase 2)UnknownNCT04844177
What this trial is testing

Total Lymphoid Irradiation Pre-HSCT in Severe Congenital Neutropenia

Who this might be right for
Severe Congenital NeutropeniaGATA2 Deficiency
Federal Research Institute of Pediatric Hematology, Oncology and Immunology 10
Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Not applicableStudy completedNCT04740359
What this trial is testing

Functional Trunk Training in Ataxia Patients

Who this might be right for
Ataxia, SpinocerebellarAtaxias, Hereditary
Hasan Kalyoncu University 20
Not applicableActive Not RecruitingNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Not applicableLooking for participantsNCT01793168
What this trial is testing

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Who this might be right for
Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more
Sanford Health 20,000
Large-scale testing (Phase 3)WithdrawnNCT04786574
What this trial is testing

See if Tolvaptan Can Delay Dialysis in Infants and Children Who at Enrollment Are 28 Days to Less Than 12 Weeks Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Who this might be right for
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Otsuka Pharmaceutical Development & Commercialization, Inc.
Large-scale testing (Phase 3)Looking for participantsNCT04782258
What this trial is testing

See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Who this might be right for
Autosomal Recessive Polycystic Kidney (ARPKD)
Otsuka Pharmaceutical Development & Commercialization, Inc. 20
Not applicableActive Not RecruitingNCT04098211
What this trial is testing

Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

Who this might be right for
Neuronal Ceroid-LipofuscinosesNeuronal Ceroid Lipofuscinosis CLN2Spinocerebellar Ataxia, Autosomal Recessive 7
Children's Hospital of Orange County 5
Testing effectiveness (Phase 2)Study completedNCT00730314
What this trial is testing

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

Who this might be right for
Sickle Cell DiseaseThalassemiaAnemia+9 more
Children's Hospital Los Angeles 25
Not applicableStudy completedNCT00068224
What this trial is testing

Clinical and Molecular Investigations Into Ciliopathies

Who this might be right for
Ciliopathy
National Human Genome Research Institute (NHGRI) 374
Not applicableLooking for participantsNCT06999954
What this trial is testing

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

Who this might be right for
Shwachman-Diamond SyndromeSDSIBMF+24 more
Shwachman-Diamond Syndrome Alliance Inc 8,000
Not applicableStudy completedNCT02511015
What this trial is testing

Hereditary Parkinson s Disease Natural History Protocol

Who this might be right for
Parkinson Disease 6, Early-OnsetParkinson Disease (Autosomal Recessive, Early Onset) 7, HumanParkinson Disease Autosomal Recessive, Early Onset+1 more
National Heart, Lung, and Blood Institute (NHLBI) 31
Testing effectiveness (Phase 2)Looking for participantsNCT06942572
What this trial is testing

A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)

Who this might be right for
Stargardt DiseaseStargardt Macular DegenerationStargardt Macular Dystrophy
Splice Bio 57
Not applicableStudy completedNCT04126005
What this trial is testing

Natural History Study of Patients With Canavan Disease (CANinform Study)

Who this might be right for
Canavan Disease
Aspa Therapeutics 67
Not applicableNot Yet RecruitingNCT07477769
What this trial is testing

Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)

Who this might be right for
Sezary SyndromeIchthyosis, Lamellar
Assistance Publique - Hôpitaux de Paris 10
Post-approval studies (Phase 4)UnknownNCT04996485
What this trial is testing

Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children

Who this might be right for
Congenital Ichthyosis
National Medical Research Center for Children's Health, Russian Federation 50
Testing effectiveness (Phase 2)Looking for participantsNCT07185256
What this trial is testing

Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)

Who this might be right for
ARBBVMDAutosomal-Dominant Bestrophinopathy+1 more
Opus Genetics, Inc 10
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