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Results for “Monogenic Diseases”

54 trials

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Showing 20 of 54 results

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
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 applicableLooking for participantsNCT05858606
What this trial is testing

Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients

Who this might be right for
Idiopathic Short Stature
University Hospital, Montpellier 200
Not applicableStudy completedNCT04485598
What this trial is testing

Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel

Who this might be right for
Stroke, AcuteTransient Ischemic AttackSingle-gene Disorders
Beijing Tiantan Hospital 502
Not applicableStudy completedNCT01238380
What this trial is testing

Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes

Who this might be right for
Diabetes
University of Exeter 1,916
Testing effectiveness (Phase 2)Looking for participantsNCT06976658
What this trial is testing

Glucokinase Activator in Monogenic Diabetes

Who this might be right for
Diabetes MellitusMonogenic Diabetes
Chinese University of Hong Kong 44
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 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
Not applicableNot Yet RecruitingNCT04434911
What this trial is testing

Precision Medicine Study on Cardiovascular Disease (PRECISE)

Who this might be right for
Cardiovascular Diseases
China National Center for Cardiovascular Diseases 20,000
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 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
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 applicableEnded earlyNCT01782027
What this trial is testing

Mendelian Reverse Cholesterol Transport Study

Who this might be right for
Cholesterol, HDLLipid Metabolism, Inborn ErrorsTangier Disease+2 more
University of Pennsylvania 17
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
Large-scale testing (Phase 3)Study completedNCT01610934
What this trial is testing

The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY)

Who this might be right for
Maturity-onset Diabetes of the Young
University Hospital, Gentofte, Copenhagen 15
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 applicableLooking for participantsNCT05200715
What this trial is testing

AutoInflammatory Disease Alliance Registry (AIDA)

Who this might be right for
Hereditary Autoinflammatory DiseasesSchnitzler SyndromeBehcet Syndrome+8 more
University of Siena 3,500
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 applicableLooking for participantsNCT04046796
What this trial is testing

Genetic Causes of Discrepant Clinic in Monogenic Twins

Who this might be right for
Rare DiseasesGenetic Predisposition to Disease
University Hospital Tuebingen 50
Testing effectiveness (Phase 2)Not Yet RecruitingNCT06986382
What this trial is testing

Phase 1b/2a Trial of Allogeneic HSCT From an HLA-partially Matched Related or Unrelated Donor After TCRab+ T-cell/CD19+ B-cell Depletion for Patients With Monogenic and/or Early-onset Medically Refractory Crohn Disease

Who this might be right for
Crohn Disease
Stanford University 14
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