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Results for “Recessive Hereditary Disorder (Autosomal)”

80 trials

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Showing 20 of 80 results

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
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
Testing effectiveness (Phase 2)Study completedNCT03364153
What this trial is testing

Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1)

Who this might be right for
Stargardt's Macular Dystrophy
Astellas Pharma Global Development, Inc. 121
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
Not applicableStudy completedNCT03478839
What this trial is testing

Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

Who this might be right for
Generalized Arterial Calcification of InfancyAutosomal Recessive Hypophosphatemic Rickets Type2
National Human Genome Research Institute (NHGRI) 48
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 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)Active Not RecruitingNCT02061800
What this trial is testing

CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant

Who this might be right for
Chronic Myeloid Leukemia (CML)Acute Myelogenous Leukemia (AML)Myelodysplastic Syndrome (MDS)+3 more
Diane George 14
Testing effectiveness (Phase 2)WithdrawnNCT04301284
What this trial is testing

Study of CAD-1883 for Spinocerebellar Ataxia

Who this might be right for
Spinocerebellar AtaxiasSpinocerebellar Ataxia Type 1Spinocerebellar Ataxia Type 2+7 more
Cadent Therapeutics
Testing effectiveness (Phase 2)Not Yet RecruitingNCT04844177
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 applicableEnrolling By InvitationNCT06144957
What this trial is testing

SLC13A5 Deficiency Natural History Study - United States Only

Who this might be right for
Citrate Transporter DeficiencyEpilepsyRare Diseases+7 more
TESS Research Foundation 17
Not applicableEnrolling By InvitationNCT04681781
What this trial is testing

SLC13A5 Deficiency Natural History Study - Remote Only

Who this might be right for
Citrate Transporter DeficiencyEpilepsyRare Diseases+7 more
TESS Research Foundation 20
Not applicableStudy completedNCT00001166
What this trial is testing

Gyrate Atrophy of the Choroid and Retina

Who this might be right for
Gyrate Atrophy
National Eye Institute (NEI) 65
Not applicableActive Not RecruitingNCT04126005
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 70
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
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
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 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 participantsNCT06374719
What this trial is testing

WiTNNess - TNNT1 Myopathy Natural History Study

Who this might be right for
TNNT1-associated MyopathyInfantile-onset Nemaline Rod MyopathyMyopathies, Nemaline+9 more
Clinic for Special Children 40
Not applicableAvailableNCT01995305
What this trial is testing

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Who this might be right for
Fanconi AnemiaAutosomal or Sex Linked Recessive Genetic DiseaseBone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.+1 more
Xiaofan Zhu
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