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Results for “Autosomal Recessive Disorder”

173 trials

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Showing 20 of 173 results

Early research (Phase 1)Study completedNCT03041363
What this trial is testing

Treatment Development of Triheptanoin (G1D)

Who this might be right for
EpilepsyGLUT1DS1Glut1 Deficiency Syndrome 1, Autosomal Recessive+4 more
Juan Pascual 12
Testing effectiveness (Phase 2)Looking for participantsNCT04875364
What this trial is testing

Do Endotypes Predict Response and Sequelae in OSA Patients

Who this might be right for
Obstructive Sleep ApneaSleep ApneaSleep Apnea, Obstructive+2 more
University of California, San Diego 200
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
Post-approval studies (Phase 4)Study completedNCT05759416
What this trial is testing

Evaluation Efficacy of Melatonin Gel as Adjunctive Therapy in Chronic Periodontitis

Who this might be right for
Chronic Periodontitis
Al-Azhar University 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
Post-approval studies (Phase 4)Study completedNCT00487929
What this trial is testing

Oxidative Stress and Cardiovascular Morbidity in Sleep Apnea-Hypopnea Syndrome (SAHS)

Who this might be right for
Sleep ApneaCardiovascular Diseases
Hospital Universitario La Paz 100
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
Not applicableWithdrawnNCT06019481
What this trial is testing

A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations

Who this might be right for
Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)Biallelic Mutations in the Gap Junction Beta 2 (GJB2) GeneDigenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
Regeneron Pharmaceuticals
Not applicableStudy completedNCT00254059
What this trial is testing

Study to Compare Polysomnography With Overnight Home Oximetry and Auto - CPAP for Sleep Apnea

Who this might be right for
Obstructive Sleep Apnea
University of British Columbia 60
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
Not applicableNot Yet RecruitingNCT07079527
What this trial is testing

Effects of Manual Positive End Expiratory Pressure and Non-invasive Continuous Positive Air Pressure in COPD Patients

Who this might be right for
COPD
Riphah International University 42
Not applicableWithdrawnNCT02947243
What this trial is testing

Decreasing REcurrent Pain and Anxiety in Medical Procedures With a Pediatric Population: Trial

Who this might be right for
PainBurnsChild+1 more
St. Justine's Hospital
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
Not applicableUnknownNCT03319888
What this trial is testing

Effect of CPAP in the Worsening of Renal Function in Early Stages of Chronic Kidney Disease (CKD)

Who this might be right for
Chronic Kidney InsufficiencySleep Apnea
Sociedad Española de Neumología y Cirugía Torácica 700
Not applicableUnknownNCT02217397
What this trial is testing

Combinations of Oral Appliance and CPAP for Patients With Severe Obstructive Sleep Apnea Untolerate High-pressure CPAP

Who this might be right for
Obstructive Sleep Apnea
National Taiwan University Hospital 60
Not applicableStudy completedNCT07102810
What this trial is testing

Hypnosis-Based Machine Learning Biomarker Study

Who this might be right for
Disorder; TranceAnxiety
Icahn School of Medicine at Mount Sinai 50
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
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