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Results for “Recessive Hereditary Disorder (Autosomal)”

83 trials

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Showing 20 of 83 results

Not applicableLooking for participantsNCT06147414
What this trial is testing

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Who this might be right for
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, IncludingSickle Cell DiseaseCystic Fibrosis+12 more
Assistance Publique - Hôpitaux de Paris 550
Not applicableEnded earlyNCT02926963
What this trial is testing

Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease.

Who this might be right for
Chronic Granulomatous Disease
University Hospital, Grenoble 3
Testing effectiveness (Phase 2)Study completedNCT03041038
What this trial is testing

The Efficacy and Safety of Secukinumab in Patients With Ichthyoses

Who this might be right for
IchthyosisAutosomal Recessive Congenital IchthyosisLamellar Ichthyosis+3 more
Northwestern University 20
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
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07523581
What this trial is testing

EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety

Who this might be right for
Alport Syndrome, X-LinkedAlport Syndrome, Autosomal Recessive
Eloxx Pharmaceuticals, Inc. 24
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
Early research (Phase 1)Study completedNCT00008450
What this trial is testing

Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant

Who this might be right for
Adenosine Deaminase DeficiencyAutosomal Recessive DisorderImmune System Disorder+4 more
Fred Hutchinson Cancer Center 6
Not applicableStudy completedNCT04153110
What this trial is testing

Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxia

Who this might be right for
AtaxiaSpinocerebellar AtaxiasSpinocerebellar Ataxia Type 1+5 more
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia 61
Not applicableLooking for participantsNCT06535542
What this trial is testing

Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis

Who this might be right for
Hypercholesterolemia, Autosomal DominantHypercholesterolemia, Autosomal RecessiveFamilial Combined Hypercholesterolemia
Abu Dhabi Health Services Company 40
Not applicableStudy completedNCT03013777
What this trial is testing

A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia

Who this might be right for
DysthymiaAnxiety DisordersFamilial Dysautonomia+2 more
NYU Langone Health 15
Testing effectiveness (Phase 2)Enrolling By InvitationNCT06253507
What this trial is testing

PCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)

Who this might be right for
p47Autosomal RecessiveChronic Granulomatous Disease
National Institute of Allergy and Infectious Diseases (NIAID) 10
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 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 applicableStudy completedNCT03120013
What this trial is testing

Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia

Who this might be right for
Ataxia, CerebellarCerebellar AtaxiaSpinocerebellar Ataxias+8 more
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia 21
Early research (Phase 1)Looking for participantsNCT05734196
What this trial is testing

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency

Who this might be right for
Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyAutosomal Recessive Hypophosphatemic RicketsGeneralized Arterial Calcification of Infancy+2 more
Inozyme Pharma 16
Not applicableStudy completedNCT05312073
What this trial is testing

Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

Who this might be right for
Autosomal Recessive Congenital IchthyosisEpidermolytic Ichthyosis
Assistance Publique - Hôpitaux de Paris 18
Not applicableLooking for participantsNCT06435000
What this trial is testing

An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene

Who this might be right for
StargardtStargardt's DiseaseStargardt Disease+1 more
Splice Bio 75
Testing effectiveness (Phase 2)Study completedNCT00301834
What this trial is testing

Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders

Who this might be right for
Congenital Amegakaryocytic ThrombocytopeniaDiamond-blackfan AnemiaLeukemia+2 more
University of California, San Francisco 35
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
Testing effectiveness (Phase 2)Enrolling By InvitationNCT02402660
What this trial is testing

Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease

Who this might be right for
Stargardt DiseaseStargardt Macular DegenerationStargardt Macular Dystrophy+1 more
Alkeus Pharmaceuticals, Inc. 160
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