Search clinical trials for: Databases, Genetic

Total 18680 results

University of Malaga

Not yet recruiting

Effectiveness of 5-week Digital Respiratory Practice in a Group of Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy. (DMDrespy2024)

Muscular Dystrophy | Duchenne Muscular Dystrophy | Becker Muscular Dystrophy

Spain
Fondazione SISA (Societa Italiana per lo Studio...

Recruiting

Lipid Transport Disorder Italian Genetic Record (LIPIGEN) (LIPIGEN)

Familial Hypercholesterolemia | Genetic Disorder

Italy
Seoul National University Hospital

Not yet recruiting

The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Duchenne Muscular Dystrophy

Muscular Dystrophy, Duchenne | Upper Extremity | Orthotic Devices

Korea, Republic of
AstraZeneca

Not yet recruiting

Real-World Treatment Study of Koselugo (Selumetinib)

Neurofibromatosis 1 | Neurofibroma, Plexiform
Cliniques universitaires Saint-Luc- Université...

Recruiting

Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases (BUSARD)

Rare Diseases | Inborn Errors of Metabolism

Belgium
Xuanwu Hospital, Beijing

Not yet recruiting

Exploring DBS Efficacy in Treatment-refractory Tourette's Syndrome

Tourette's Syndrome

China
Peking University Third Hospital

Recruiting

Exploring the Value of 18F-AlF-FAPI PET/CT in Assessing the Activity of Thyroid Eye Disease

Thyroid Eye Disease

China
Alnylam Pharmaceuticals

Recruiting

Observational Study of Neurofilament Light Chain (NfL) as a Biomarker in Asymptomatic Carriers of the Transthyretin (TTR) Variants and Patients With Hereditary Transthyretin-mediated (hATTR) Amyloidosis With Polyneuropathy

Hereditary Amyloidosis, Transthyretin-Related | Asymptomatic Carrier State

France
Children's National Research Institute
The Hospital for Sick Children; Ann & Robert H Lurie Children's Hospital of... and other collaborators

Recruiting

Sickle Cell Disease Transplant Using a Nonmyeloablative Approach for Patients With Anti-donor Red Cell AntibodY (SUN-RAY)

Sickle Cell Disease

United States
Rigshospitalet, Denmark

Not yet recruiting

Preimplantation Genetic Testing for Aneuploidy (PGT-A) in Women Aged 37-41 Years

Infertility

Denmark
Azienda Ospedaliera Universitaria Integrata Verona
Abbott Medical Devices

Recruiting

Microvascular Dysfunction Assessment to Predict Left Ventricular Reverse Remodeling (MICROREV)

Heart Failure | Left Ventricular Dysfunction | Idiopathic Dilated Cardiomyopathy

Italy
Assistance Publique - Hôpitaux de Paris
Vaincre la Mucoviscidose

Not yet recruiting

Oral Health Status of Cystic Fibrosis Patients. An Online Survey in Collaboration With the Vaincre la Mucoviscidose Patient Association. (E-MUCODENT)

Cystic Fibrosis

France
IRCCS Eugenio Medea

Recruiting

Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy

Epilepsy | Angelman Syndrome | Dup15q Syndrome

Italy
Institut de Myologie, France
Association Française contre les Myopathies (AFM), Paris

Not yet recruiting

Natural History Study of Children With LAMA2-related Dystrophies (LAMA2)

Merosin Deficient Congenital Muscular Dystrophy

France
University Hospital, Basel, Switzerland

Recruiting

Genetic Architecture of Acute Aortic Syndromes and Aortic Aneurysm.

Thoracic Aortic Aneurysm | Acute Aortic Dissection

Switzerland
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Prevalence and Characterization of Pain in RASopathies (3717)

Noonan Syndrome | Costello Syndrome | RASopathy | Cardio-Facio-Cutaneous Syndrome

Italy
CHU de Reims

Recruiting

Bronchiectasis Prevalence in Patients With Primary Humoral Immunodefiency in Champagne-Ardenne Region, France (PREDDICHA)

Primary Immunodeficiency | Common Variable Immunodeficiency | Igg Subclass Deficiency | Selective IgM Deficiency

France
Sensorion

Not yet recruiting

Cross-sectional and Prospective Study to Characterize Early-onset Presbycusis (SONG)

Sensorineural Hearing Loss, Bilateral

France
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Comparative Health Status and Quality of Life of Patients With Sickle Cell Disease (SCD) Who Underwent Matched-sibling Hematopoietic Stem Cell Transplantation Versus Non Transplanted SCD Case-control Patients (TRANSPLANTORN2)

Sickle Cell Disease
Hasan Kalyoncu University

Recruiting

Effects of Orofacial Therapy and Therapeutic Yoga in Children With Down Syndrome

Down Syndrome

Turkey
Pfizer

Not yet recruiting

Abrocitinib Taiwan Treatment Pattern and Real World Study in ATopiC Dermatitis (ATTRACT Registry) (ATTRACT)

Skin Diseases | Immune System Diseases | Dermatitis | Eczema | Dermatitis, Atopic | Janus Kinase Inhibitors
University Hospital, Bonn
Swedish Orphan Biovitrum

Recruiting

Prevalence of Synovitis in Patients With Haemophilia A (SynoPrev)

Haemophilia A | Synovitis | Hemophilia Arthropathy | Sonography

Germany
Equilibra Bioscience LLC

Recruiting

A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B)

Hemophilia A | Hemophilia B | Healthy Participants

United States
Emory University
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruiting

A Pilot and Feasibility Study to Evaluate High vs Low Glycemic Index Mixed Meal Tolerance Test in Adolescents and Young Adults With Cystic Fibrosis

Cystic Fibrosis

United States
Fondazione IRCCS Ca' Granda, Ospedale Maggiore...
Federico II University; Istituto Auxologico Italiano; Università degli Studi...

Recruiting

Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks

Beckwith-Wiedemann Syndrome

Italy
Takeda

Not yet recruiting

A Study of Lanadelumab (Takhzyro) and Icatibant (Firazyr®) in Persons With HAE in China

Hereditary Angioedema (HAE)

China
IRCCS Fondazione Stella Maris
Azienda USL Toscana Nord Ovest; University of Dublin, Trinity College; Meyer...

Recruiting

Biomarkers in Rett Syndrome (BIRS)

Rett Syndrome

Italy, Ireland
John Paul II Hospital, Krakow

Recruiting

New Biomarkers and Plasma Prothrombotic Potential in Cardiac Transthyretin Amyloidosis

Transthyretin Amyloidosis

Poland
Pharvaris Netherlands B.V.

Recruiting

Study of Oral Deucrictibant Soft Capsule for On-Demand Treatment of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema (RAPIDe-3)

Hereditary Angioedema | Hereditary Angioedema Type I | Hereditary Angioedema Type II | Hereditary Angioedema Types I and II | Hereditary Angioedema Attack | Hereditary Angioedema With C1 Esterase Inhibitor Deficiency | Hereditary Angioedema - Type 1 | Hereditary Angioedema - Type 2 | C1 Esterase Inhibitor... and other conditions

United States, Puerto Rico
Corvus Pharmaceuticals, Inc.

Recruiting

Safety, Tolerability, and Preliminary Efficacy of Soquelitinib in Participants With Moderate to Severe AD

Atopic Dermatitis

United States
Children's Hospital Colorado
University of Colorado, Denver; University of Pennsylvania; University of Alabama... and other collaborators

Recruiting

The Diagnostic Experience of Male Rett Syndrome

Rett Syndrome | RTT

United States
Vertex Pharmaceuticals Incorporated

Recruiting

A Phase 1 Study to Evaluate Safety, Tolerability, and Pharmacokinetics (PK) of VX-407 in Healthy Participants

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

United States
Fondation Ophtalmologique Adolphe de Rothschild

Not yet recruiting

Functional Impairment in Albinism (PLAIB)

Albinism, Ocular
Huntington Study Group
Roche Products Limited

Recruiting

Project AWARE 2.0 to Improve Awareness, Willingness and Ability for Research and Enrollment in Clinical Research

Huntington Disease

United States
Roswell Park Cancer Institute

Recruiting

Genetically Engineered Cells (EGFRt/19-28z/IL-12 CAR T Cells) for the Treatment of Relapsed or Refractory CD19+ Hematologic Malignancies

Recurrent Mantle Cell Lymphoma | Recurrent Diffuse Large B-Cell Lymphoma | Refractory Diffuse Large B-Cell Lymphoma | Refractory Chronic Lymphocytic Leukemia | Refractory Mantle Cell Lymphoma | Recurrent High Grade B-Cell Lymphoma | Recurrent Transformed Follicular Lymphoma to Diffuse Large B-Cell... and other conditions

United States
AstraZeneca

Recruiting

Transthyretin Amyloidosis Cardiomyopathy in Patients With HFpEF in Russia (TETRAMER)

Transthyretin Amyloidosis Cardiomyopathy, Heart Failure With Preserved Ejection Fraction

Russian Federation
Jirair Krikor Bedoyan
Ultragenyx Pharmaceutical Inc

Recruiting

Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

Pyruvate Dehydrogenase Complex Deficiency

United States
University of Palermo

Recruiting

Can Gluten/Wheat or Other Foods be Responsible for FMF Attacks

Familial Mediterranean Fever | Non-celiac Gluten Sensitivity

Italy
Washington University School of Medicine
National Cancer Institute (NCI); The Foundation for Barnes-Jewish Hospital

Recruiting

Washington University Participant Engagement and Cancer Genomic Sequencing Center (WU-PE-CGS)

Multiple Myeloma | Rectal Cancer | Cholangiocarcinoma | Colon Cancer

United States
Centre Hospitalier Intercommunal Creteil

Not yet recruiting

Real World Environmental Exposure Study With Healthy and Cystic Fibrosis Subjects (ExpoCF)

Environmental Exposure | Cystic Fibrosis, Pulmonary | Exhaled Breath Condansate
Children's Hospital Medical Center, Cincinnati

Recruiting

Regional Monitoring of CF Lung Disease

Cystic Fibrosis

United States
Rett Syndrome Research Trust

Not yet recruiting

Validation of Innovative Biosensors for Rett Autonomic Symptom Tracking (VIBRANT)

Rett Syndrome

United States
Rigshospitalet, Denmark

Not yet recruiting

Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria

Brain Diseases | Genetic Diseases, Inborn | Metabolism, Inborn Errors | Brain Diseases, Metabolic | Phenylketonurias | Brain Diseases, Metabolic, Inborn | Amino Acid Metabolism, Inborn Errors | Metabolic Disease

Denmark
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Randomized Controlled Trial in Patients on Long-term Colchicine With Colchicine-resistant Familial Mediterranean Fever (FMF) to Evaluate the Efficacy of On-demand Anakinra Treatment for Painful Attacks in Patients Who Refuse Continuous Daily Therapy (KIN-ATTACK-FMF)

FMF

France
IRCCS Eugenio Medea

Recruiting

Study of the Prevalence of Autistic Traits in Angelman Syndrome

Angelman Syndrome

Italy
University of Texas Southwestern Medical Center

Not yet recruiting

Use of DNA Testing and Gene Expression Profiling to Help Transition Kidney Transplant Recipients to Belatacept-only Immunosuppression

Kidney Transplant Immunosuppression

United States
IRCCS San Raffaele

Recruiting

Characterization of DupEx2 Duchenne Muscular Dystrophy (DMDDup2)

Muscular Dystrophy, Duchenne

Italy
GCS Ramsay Santé pour l'Enseignement et la Recherche

Not yet recruiting

Evaluation of the Effects of Cross Linking on the Biomechanical Characteristics of Skin Samples From Patients With Classic or Hypermobile Ehlers-Danlos Syndrome (SEDSKIN)

Ehlers-Danlos Syndrome

France
Medical University of Vienna
University of Vienna; Griffith University

Recruiting

Brown Adipose Tissue Activity in Gilbert's Syndrome

Gilbert Syndrome

Austria
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Understanding the Mechanisms of Autism : an MRI and Social Cognition Study (ECLAT)

Autism Spectrum Disorder

France

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