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Results for “Recessive Hereditary Disorder (Autosomal)”

83 trials

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Showing 20 of 83 results

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
Not applicableLooking for participantsNCT06967831
What this trial is testing

Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

Who this might be right for
Leigh Syndrome (Maternally Inherited, MILS)Leigh Syndrome (AR, AD, XR)
Charite University, Berlin, Germany 80
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
Not applicableEnrolling By InvitationNCT03655223
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
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
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
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 participantsNCT04815005
What this trial is testing

HoFH, the International Clinical Collaborators Registry

Who this might be right for
Homozygous Familial Hypercholesterolemia
University of Pennsylvania 1,000
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 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 applicableUnknownNCT05107830
What this trial is testing

Phenotyping of Primary Hyperoxaluria

Who this might be right for
Primary Hyperoxaluria
University Hospital, Strasbourg, France 186
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
Testing effectiveness (Phase 2)Active Not RecruitingNCT01966367
What this trial is testing

CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation

Who this might be right for
Bone Marrow Failure SyndromeSevere Aplastic AnemiaSevere Congenital Neutropenia+13 more
Diane George 37
Testing effectiveness (Phase 2)WithdrawnNCT06147856
What this trial is testing

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

Who this might be right for
Phenylketonuria
ModernaTX, Inc.
Not applicableLooking for participantsNCT06065852
What this trial is testing

National Registry of Rare Kidney Diseases

Who this might be right for
Adenine Phosphoribosyltransferase DeficiencyAH AmyloidosisAHL Amyloidosis+81 more
UK Kidney Association 35,000
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 applicableLooking for participantsNCT05354622
What this trial is testing

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

Who this might be right for
Hereditary Spastic ParaplegiaNeurodegenerative DiseasesPediatric Disorder+3 more
Boston Children's Hospital 200
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
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.
Testing effectiveness (Phase 2)Study completedNCT01529827
What this trial is testing

Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies

Who this might be right for
Accelerated Phase Chronic Myelogenous LeukemiaAdult Acute Lymphoblastic Leukemia in RemissionAdult Acute Myeloid Leukemia in Remission+75 more
Roswell Park Cancer Institute 94
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