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Results for “Monogenic Diseases”

54 trials

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Showing 20 of 54 results

Not applicableStudy completedNCT04408950
What this trial is testing

Sample Collection for Systems Evaluation of Patients With Unknown or Incompletely Characterized Immune Defects

Who this might be right for
Immunodeficiency
National Institute of Allergy and Infectious Diseases (NIAID) 19
Not applicableUnknownNCT02489253
What this trial is testing

Atherosclerosis in Familial Hypercholesterolemia

Who this might be right for
Familial Hypercholesterolemia
University College, London 100
Testing effectiveness (Phase 2)UnknownNCT04940572
What this trial is testing

Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome

Who this might be right for
Wolfram Syndrome
Centre d'Etude des Cellules Souches 23
Not applicableUnknownNCT05325749
What this trial is testing

Whole Exome Screening of Newborns

Who this might be right for
Infant, Newborn
Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare 7,000
Not applicableUnknownNCT05793424
What this trial is testing

Establishment of a CSF Bank for the Development of Biomarkers of Smooth Muscle Cell (SMC) Damage in Monogenic Cerebral Small Vessel Disease

Who this might be right for
Cerebral Small Vessel DiseasesCADASIL (Diagnosis)
Assistance Publique - Hôpitaux de Paris 90
Not applicableUnknownNCT04532541
What this trial is testing

Monogenic Lupus in Childhood Onset Systemic Lupus Erythematosus

Who this might be right for
Monogenic LupusSystemic Lupus Erythematosus
Children's Hospital of Fudan University 200
Large-scale testing (Phase 3)Looking for participantsNCT07220772
What this trial is testing

A Study Evaluating Mibavademab Treatment of Obesity Due to Leptin (LEP) Gene Mutations in Children, Adolescents and Adults

Who this might be right for
Monogenic Obesity
Regeneron Pharmaceuticals 4
Not applicableStudy completedNCT00339885
What this trial is testing

Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus

Who this might be right for
Genetic VariationDiabetes
National Human Genome Research Institute (NHGRI) 32,379
Not applicableAvailableNCT04710056
What this trial is testing

Expanded Access to REGN4461 for Patients With Diseases Associated With Deficient Leptin Signaling

Who this might be right for
LipodystrophyGeneralized Lipodystrophy (GLD)Monogenic Obesity (MOB)
Regeneron Pharmaceuticals
Not applicableStudy completedNCT02634229
What this trial is testing

Predisposition Genes in Monogenic Diabetes (DIAMONO)

Who this might be right for
Non Autoimmune Monogenic Diabetes
Assistance Publique - Hôpitaux de Paris 96
Not applicableLooking for participantsNCT03369821
What this trial is testing

EXtremely Early-onset Type 1 Diabetes EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study)

Who this might be right for
Type1 Diabetes Mellitus
University of Exeter 300
Not applicableUnknownNCT03589079
What this trial is testing

Delineation of Novel Monogenic Disorders in the United Arab Emirates Population

Who this might be right for
Mendelian DisordersGenetic DisorderNovel Mutation+4 more
Imperial College London Diabetes Centre 150
Not applicableStudy completedNCT01085227
What this trial is testing

Clinical, Molecular and by Neuroimaging of LRRK2 Mutations

Who this might be right for
Parkinson's Disease
Institut National de la Santé Et de la Recherche Médicale, France 50
Not applicableNot Yet RecruitingNCT07576374
What this trial is testing

Specificities of Atypical Non AutoImmune Diabetes (ANAID) in the French West Indies

Who this might be right for
Metabolic DiseasesDiabetes Mellitus (Type 2)Genetic Variation+2 more
Centre Hospitalier Universitaire de la Guadeloupe 118
Not applicableLooking for participantsNCT03305835
What this trial is testing

Monogenic Kidney Stone - Genetic Testing

Who this might be right for
Rare Kidney Stone Diseases
Mayo Clinic 6,000
Not applicableLooking for participantsNCT06808880
What this trial is testing

EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)

Who this might be right for
Single Gene NIPT
Natera, Inc. 4,000
Not applicableLooking for participantsNCT07469657
What this trial is testing

Health Economic Evaluation of Non-Invasive Prenatal Exclusion Diagnosis

Who this might be right for
Monogenic DiseasesGenetic Diseases, Inborn
Assistance Publique - Hôpitaux de Paris 300
Large-scale testing (Phase 3)Study completedNCT04409795
What this trial is testing

Oral Hypoglycemic Therapy for Monogenic Variant Carriers of the Joslin Medalist Study

Who this might be right for
Type 1 DiabetesMonogenic Diabetes
Joslin Diabetes Center 3
Not applicableUnknownNCT04979182
What this trial is testing

Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

Who this might be right for
Neurodevelopmental Disorders
University Hospital, Strasbourg, France 30
Testing effectiveness (Phase 2)Active Not RecruitingNCT03963154
What this trial is testing

Interventional Study of Implantation of hESC-derived RPE in Patients With RP Due to Monogenic Mutation

Who this might be right for
Retinitis Pigmentosa
Centre d'Etude des Cellules Souches 7
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