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Results for “Autosomal Recessive Disease”

180 trials

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Showing 20 of 180 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
Testing effectiveness (Phase 2)Study completedNCT03181399
What this trial is testing

Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

Who this might be right for
GLUT1DS1EpilepsyGlut1 Deficiency Syndrome 1, Autosomal Recessive+4 more
University of Texas Southwestern Medical Center 45
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 applicableActive Not RecruitingNCT07497412
What this trial is testing

The Effect of Continuous Positive Airway Therapy on the Blood Pressure in Sleepy vs Non-sleepy Patients With Obstructive Sleep Apnea

Who this might be right for
Obstructive Sleep Apnea
King's College London 10,000
Not applicableStudy completedNCT02977923
What this trial is testing

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

Who this might be right for
PainAnxietyBurns+2 more
St. Justine's Hospital 20
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
Not applicableStudy completedNCT06119048
What this trial is testing

Phe for Me? The Effects of L-Phe on PKU Carriers and Non-carriers

Who this might be right for
Autosomal Recessive Disorder (Genetic Carriers of PKU)
University of Guelph 56
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
Testing effectiveness (Phase 2)Ended earlyNCT04515394
What this trial is testing

Study of Tepotinib Combined With Cetuximab in Participants With Left-Sided RAS/BRAF Wild Type Metastatic Colorectal Cancer (PERSPECTIVE)

Who this might be right for
Colorectal Neoplasms
EMD Serono Research & Development Institute, Inc. 3
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
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 participantsNCT06648044
What this trial is testing

Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies

Who this might be right for
NephronophthisisNPH1Autosomal+4 more
Imagine Institute 310
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 participantsNCT06261424
What this trial is testing

Effects of a Supervised Rehabilitation Program on Disease Severity in Spastic Ataxias

Who this might be right for
Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenaySpastic Paraplegia 7
Laval University 84
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
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