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Results for “Autosomal Recessive”

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Showing 20 of 0 results

Large-scale testing (Phase 3)Looking for participantsNCT06056297
What this trial is testing

Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections

Who this might be right for
Neutropenia
X4 Pharmaceuticals 176
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)Looking for participantsNCT07627971
What this trial is testing

Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss

Who this might be right for
GJB2-mediated Hearing LossGJB2 Gene MutationDFNB1A
Skylark Bio Inc. 10
Not applicableStudy completedNCT01371955
What this trial is testing

Impact of c242T Polymorphism of p22phox in Diabetic type1 Nephropathy

Who this might be right for
Type 1 Diabetes MellitusDiabetic Nephropathy
University Hospital, Grenoble 162
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
Testing effectiveness (Phase 2)Looking for participantsNCT06419205
What this trial is testing

Evaluate the Safety, PD, PK, and Clinical Activity of ADX-097 in Participants With IgAN, LN or C3G

Who this might be right for
IgA NephropathyLupus Nephritis (LN)C3 (Complement Component 3) Glomerulopathy
Akebia Therapeutics 30
Not applicableUnknownNCT05768750
What this trial is testing

A Home-based Rehabilitation in ARSACS

Who this might be right for
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Université de Sherbrooke 48
Not applicableStudy completedNCT07745179
What this trial is testing

Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency

Who this might be right for
Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyATP-Binding Cassette Subfamily C Member 6 DeficiencyGeneralized Arterial Calcification of Infancy+2 more
Inozyme Pharma 23
Not applicableStudy completedNCT02798783
What this trial is testing

Enlarged Vestibular Aqueduct Registry

Who this might be right for
Enlarged Vestibular AqueductSensorineural Hearing Loss
University Hospitals Cleveland Medical Center 165
Not applicableLooking for participantsNCT06983769
What this trial is testing

CPAP vs MAD for OSA in Patients With Cognitive Impairment. A Randomized Clinical Trial

Who this might be right for
Obstructive Sleep Apnea (OSA)Mild Cognitive Impairment
National University Hospital, Singapore 260
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)Active Not RecruitingNCT04239625
What this trial is testing

Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)

Who this might be right for
Stargardt DiseaseStargardt Macular DegenerationStargardt Macular Dystrophy+1 more
Alkeus Pharmaceuticals, Inc. 200
Not applicableStudy completedNCT01902940
What this trial is testing

Natural History in CCFDN and IBM Syndromes

Who this might be right for
Inclusion Body Myositis, SporadicInclusion Body Myopathy, Autosomal-recessiveInclusion Body Myopathy, Autosomal-dominant+1 more
Ludwig-Maximilians - University of Munich 350
Not applicableStudy completedNCT05102084
What this trial is testing

The Effect of Listening to Music During CPAP on the Agitation Levels and Compliance.

Who this might be right for
COVID-19COVID-19 Acute Respiratory Distress Syndrome
SÜMEYYE BİLGİLİ 70
Testing effectiveness (Phase 2)Study completedNCT00305708
What this trial is testing

Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission

Who this might be right for
Congenital Amegakaryocytic ThrombocytopeniaDiamond-blackfan AnemiaFanconi Anemia+3 more
University of California, San Francisco 40
Not applicableLooking for participantsNCT05085704
What this trial is testing

Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease

Who this might be right for
Glut1 Deficiency Syndrome 1Glucose Metabolism DisordersEpilepsy+4 more
Weill Medical College of Cornell University 20
Not applicableLooking for participantsNCT06601829
What this trial is testing

Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital

Who this might be right for
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
Sohag University 30
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 applicableWithdrawnNCT03155828
What this trial is testing

Using CPAP to Improve Menstruation in Women With Polycystic Ovarian Syndrome and Obstructive Sleep Apnea

Who this might be right for
Sleep Apnea, ObstructiveAnovulationPolycystic Ovarian Syndrome
University of Louisville
Testing effectiveness (Phase 2)Looking for participantsNCT05207657
What this trial is testing

Lentiviral Gene Therapy for p47 AR-CGD

Who this might be right for
P47-Phox, Deficiency of
Great Ormond Street Hospital for Children NHS Foundation Trust 5
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