Search clinical trials for: Genetic diagnosis

Total 23225 results

IRCCS Eugenio Medea

Recruiting

Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe] (MDCJ-NeuBeRe)

Myotonic Dystrophy 1

Italy
Beijing Tiantan Hospital
West China Hospital; The First Affiliated Hospital of Zhengzhou University; Capital... and other collaborators

Recruiting

Evaluate the Effectiveness and Safety of Raman IVD Analyzer in the Molecular Diagnosis of Gliomas During Surgery

Glioma

China
Dr. Sascha Drewlo

Not yet recruiting

Optimization of Cervical Collections in Pregnancy (OCCP)

Fetal Growth Retardation | Preeclampsia | Cervix; Pregnancy | Inherited Genetic Conditions (Diagnosis)
Fondazione IRCCS Ca' Granda, Ospedale Maggiore...

Recruiting

Genetic Diagnosis and Personalized Medicine for Patients With Epilepsy

Epilepsy

Italy
Institut National de la Santé Et de la Recherche...

Recruiting

X-linked Moesin Associated Immunodeficiency (X-MAIDReg)

Infections | Autoimmune Diseases | Diagnosis | Immune Deficiency

France, United States, Australia, Belgium, Japan, Netherlands
ART Fertility Clinics LLC

Not yet recruiting

Effect of Antioxydant-enriched Media on Blastocyst Euploidy Rates. (GX)

Infertility | In Vitro Fertilization
King's College London
King's College Hospital NHS Trust; Guy's and St Thomas' NHS Foundation Trust; British Academy and other collaborators

Not yet recruiting

Support Strategies for Parents During the First Year Following Their Child's Diagnosis of Sickle Cell Disorder

Sickle Cell Disease
Identifai Genetics

Recruiting

Identifai Genetics Analytic Validity Study - Compound Heterozygosity and Samples Collection

Genetics | Prenatal Diagnosis

United States
University of Pennsylvania

Recruiting

LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study (LCAT NHS)

LCAT Deficiency

United States
University of California, Los Angeles
University of Iowa; Children's Hospital Colorado; University of Kansas Medical... and other collaborators

Recruiting

Sinus Disease in Young Children With Cystic Fibrosis

Chronic Rhinosinusitis (Diagnosis) | Cystic Fibrosis | Olfactory Disorder | Cystic Fibrosis in Children | Olfactory Impairment

United States
Azienda Ospedaliero-Universitaria di Modena

Recruiting

Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular Anomalies in Adult Patients With Turner Syndrome

Turner Syndrome | Anomaly Heart

Italy
Royal Marsden NHS Foundation Trust

Recruiting

Inherited Cancer Early Diagnosis (ICED) Study (ICED)

Lynch Syndrome | Familial Adenomatous Polyposis | Hereditary Diffuse Gastric Cancer | Peutz-Jeghers Syndrome | Cowden Syndrome | Li Fraumeni Syndrome | MutYH-associated Polyposis | SMAD4 Gene Mutation

United Kingdom
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders (DANNIgene)

Hemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditions

France
Milton S. Hershey Medical Center

Not yet recruiting

Skin-interfaced Colorimetric Bifluidic Sweat Sensor Device for the Diagnosis of Cystic Fibrosis (CF)

Cystic Fibrosis
Mario Negri Institute for Pharmacological Research

Recruiting

Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases (ANTHEM)

Healthy | Autosomal Dominant Polycystic Kidney | Atypical Hemolytic Uremic Syndrome | Membranoproliferative Glomerulonephritis

Italy
Prof. Dr. Juergen Wolf
Charite University, Berlin, Germany; University Hospital, Essen; Goethe University and other collaborators

Recruiting

National Network Genomic Medicine Lung Cancer, Germany (nNGM)

Carcinoma, Non-Small-Cell Lung

Germany
Castilla-La Mancha Health Service

Recruiting

Usefulness of Continuous Glucose Monitoring in MODY Diagnosis (UCMODY)

Type 1 Diabetes | MODY

Spain
Tianjin Anding Hospital

Not yet recruiting

Exosome for Early Diagnosis of Bipolar Affective Disorder

Major Depressive Disorder | Bipolar Affective Disorder

China
Hereditary Neuropathy Foundation

Recruiting

Natural History Study for Charcot Marie Tooth Disease

Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth Disease, Type IA | Charcot-Marie-Tooth Disease Type 2A | Charcot-Marie-Tooth | Charcot-Marie-Tooth Disease, Type IB | Charcot-Marie-Tooth Disease Type 2 | Charcot-Marie-Tooth Disease, Type 2C | Charcot-Marie-Tooth Disease Type 2A2B | Charcot-Marie-Tooth... and other conditions

United States
Assistance Publique - Hôpitaux de Paris

Recruiting

Decision-making Process of Couples Confronted With Prenatal Diagnosis of an Isolated CCA (ACCED)

Corpus Callosum Agenesis

France
University of Cologne
Charite University, Berlin, Germany; University Hospital, Essen; University Medicine... and other collaborators

Recruiting

Improvement of Personalized Lung Cancer Care Through Digital Connection and Patient Participation (DigiNet) (DigiNet)

Non-small Cell Lung Cancer Stage IV

Germany
EarliTec Diagnostics, Inc
Marcus Autism Center

Recruiting

Dynamic Quantification of Social-Visual Engagement in Autism Spectrum Disorder (ASD) For Children Ages 31-84 Months (MEASURE-ASD2)

Autism Spectrum Disorder | Autism

United States
IRCCS San Raffaele
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Recruiting

Development of a Software Tool, Using Artificial Intelligence, That Integrates Clinical, Biological, Genetic and Imaging Data to Predict Diagnosis and Outcome of Depressed Patients in Order to Enhance Prognosis and Limiting Healthcare Costs.

Bipolar Disorder | Unipolar Depression

Italy
Istituto Superiore di Sanità
Fondazione G.B. Bietti, IRCCS; Ospedale Pediatrico Bambin Gesù

Recruiting

Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models

Retinitis Pigmentosa | Macular Dystrophy | Inherited Retinal Dystrophy

Italy
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

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

Cerebral Small Vessel Diseases | CADASIL (Diagnosis)
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Acute Myeloid Leukemia At Initial Diagnosis and/or Relapse in Children, Teenagers and Young Adults: Molecular Profiling, Multidrug Testing and MSC Interaction Studies (ALARM3)

Acute Myeloid Leukemia | Genetic Predisposition to Disease
Assistance Publique - Hôpitaux de Paris

Recruiting

Non-Invasive Diagnosis of Endometrial Cancer (NIECE)

Endometrial Cancer

France
Maxima Medical Center

Recruiting

A Pilot Study to Explore the Use of Skin Biopsy as Diagnostic Tool in Anterior Cutaneous Nerve Entrapment Syndrome (ACNES) (Biopsy-ACNES)

Chronic Pain Syndrome | Diagnosis | Nerve Entrapment Syndrome | Anterior Cutaneous Nerve Entrapment Syndrome

Netherlands
Johns Hopkins University

Recruiting

Multi-parametric Biomarker Development to Predict Malignant Conversion in Patients With Neurofibromatosis Type 1

Neurofibromatosis 1 | Atypical Neurofibroma | Malignant Peripheral Nerve Sheath Tumor (MPNST) of Soft Tissue (Diagnosis)

United States
Sujun Zheng

Not yet recruiting

Research on the Clinical Characteristics and Key Diagnosis and Treatment Technology of Genetic and Metabolic Liver Disease

Diagnosis ， Treatment， Genetic and Metabolic Liver Disease
United Arab Emirates University

Not yet recruiting

Identifying Maturity-onset Diabetes of the Young in Emirati Patients

Maturity-onset Diabetes of the Young | MODY | Monogenic Diabetes
University Hospital, Strasbourg, France

Not yet recruiting

Clinical Interest of a Genetic Diagnosis in Early Infant Epilepsy, Paraclinical and Therapeutic Management, and Psychological Impact of Families

Early Infant Epilepsy

France
Shandong University
The First Affiliated Hospital with Nanjing Medical University; Changhai Hospital and other collaborators

Recruiting

First Live Birth Rate With eSET After Preimplantation Methylome Screening (PIMS) Versus Conventional In-vitro Fertilization

Reproductive Techniques, Assisted | DNA Methylation

China, Thailand
Universidade do Porto
Hospital da Luz, Lisboa; Hospital Pedro Hispano; Centro Hospitalar de Leiria; Centro... and other collaborators

Recruiting

Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies (F-CHECK)

Fabry Disease

Portugal
Institut National de la Santé Et de la Recherche...

Recruiting

Molecular Diagnosis of Systemic Autoinflammatory Diseases (SAIDiag)

Genetic Disease | Inflammatory Disease | Somatic Mutation | Molecular Sequence Variation | Molecular Pathway Deregulation

France
Assistance Publique - Hôpitaux de Paris
National Cancer Institute, France

Not yet recruiting

Evaluation of a Multimodal Strategy for Early Diagnosis of Men at High Genetic Risk of Prostate Cancer (HRPCa-II) (HRPCa-II)

Prostate Cancer
Institut Pasteur
CEntre de Recherche et d'Innovation en Audiologie Humaine; Laboratoire de correction...

Recruiting

Development of a Battery of Audiological Tests for the Precision Diagnosis of Age-related Hearing Loss (AUDIOGENAGE)

Presbyacusis

France
Essentia Health
St. Luke's Hospital of Duluth; WHITESIDE Institute for Clinical Research

Recruiting

Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH) (ID-FH)

Familial Hypercholesterolemia | Genetic Disease | Cholesterol, Elevated

United States
Chang Gung Memorial Hospital

Recruiting

Investigation and Diagnosis of the Chromosome Variation in Donated/Abandoned Blastocyst

Recurrent Miscarriage | Chromosome Translocation | Genetic Disorders in Pregnancy

Taiwan
West China Hospital

Recruiting

Computer Aided Diagnostic Tool on Computed Tomography Images for Diagnosis of Retroperitoneal Tumor in Children

Sarcoma | Lymphoma | Neuroblastoma | Wilms' Tumor | Teratoma | Germ Cell Tumor

China
University Hospital, Strasbourg, France

Recruiting

Molecular Aspects of Preimplantation Genetic Diagnosis for NF1 (NF1)

Neurofibromatosis Type 1

France
Avera McKennan Hospital & University Health Center
Sema4

Recruiting

Avera Cancer Sequencing and Analytics Protocol (ASAP) (ASAP)

Cancer | Breast Cancer | Gynecologic Cancer | Ovarian Cancer | Lung Cancer | Endometrial Cancer | Colon Cancer | CNS Cancer | GI Cancer | Hematologic Cancer | Early Detection of Cancer | Cancer Diagnosis

United States
Hospices Civils de Lyon

Recruiting

Smith Magenis Syndrome Study (SMS)

Smith-Magenis Syndrome

France
Bahçeşehir University

Not yet recruiting

Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices

Duchenne Muscular Dystrophy | Spinal Muscular Atrophy | Healthy Individuals
Chunxiu Gong
The First Affiliated Hospital with Nanjing Medical University; Tongji Hospital and other collaborators

Not yet recruiting

Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature

Genetic Diseases, Inborn | Small for Gestational Age Infant | Silver-Russell Syndrome
Second Affiliated Hospital, School of Medicine,...

Recruiting

Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease

Wilson Disease

China
University Hospital, Lille

Recruiting

Research of Biomarkers Associated With the Diagnosis and Severity of Bradykinin Angioedema (BRADYDIAG)

Angio Edema

France
Central Hospital, Nancy, France

Recruiting

Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease

Pompe's Disease Juvenile Onset

France
Institut National de la Santé Et de la Recherche...

Not yet recruiting

Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation (ATRACTion)

Autoimmune Diseases | Systemic Lupus Erythematosus | Primary Immunodeficiency | Autoimmune Hepatitis | Juvenile Idiopathic Arthritis | IBD | Autoimmune Rheumatologic Disease | Autoimmune Diabetes | APECED | IPEX | Hemophagocytic Lymphohistiocytoses | Autoimmune Lymphoproliferative Syndrome | Autoimmune Thrombocytopenia and other conditions
Sohag University

Recruiting

The Role of Standardized Bleeding Score in Diagnosis of Pediatric Von Willebrand's Disease

Von Willebrand's Diseased Children, Bleeding Questionnaire is Done

Egypt

Search clinical trials for: Genetic diagnosis

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