Search clinical trials for: Genetic Diseases, Inborn

Total 18471 results

Apollo Therapeutics Ltd

Not yet recruiting

A Study to Investigate APL-4098 Alone and/or in Combination With Azacitidine in R/R AML and High-Risk MDS

Myelodysplastic Syndrome With Excess Blasts | Acute Myeloid Leukemia, in Relapse | Acute Myeloid Leukemia Refractory | Myelodysplastic Syndrome Acute Myeloid Leukemia
University of Pittsburgh
National Heart, Lung, and Blood Institute (NHLBI)

Not yet recruiting

Peer Support for Adolescents and Emerging Adults With Sickle Cell Pain (PRESENCE)

Pain | Sickle Cell Disease
Enzyre B.V.
Indiana Hemophilia & Thrombosis Center

Not yet recruiting

Case and Use Scenario Study to Gain Knowledge on the User Needs for a Medical Device for Hemophilia A Monitoring

Hemophilia A

United States
Chugai Pharmaceutical

Not yet recruiting

Phase 1b Trial of RAY121 in Immunological Diseases (RAINBOW Trial)

Antiphospholipid Syndrome (APS) | Immune Thrombocytopenia (ITP) | Dermatomyositis (DM) | Bullous Pemphigoid (BP) | Behçet's Syndrome (BS) | Immune-mediated Necrotizing Myopathy (IMNM)

United States, Japan
Hospices Civils de Lyon

Not yet recruiting

Circadian Rhythm Disorders in Children With Cystic Fibrosis Under CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Modulators (CHRONO-MUCO)

Cystic Fibrosis

France
Massachusetts General Hospital
n-Lorem Foundation

Not yet recruiting

Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy

Genetic Disease
Centre Hospitalier Universitaire de la Réunion

Recruiting

Pathogenicity of Species of the Achromobacter Genus in Patients From Reunion Island With Cystic Fibrosis (ACHROMO-MUCO)

Cystic Fibrosis

Réunion
Medical University of Warsaw

Recruiting

Tocilizumab in Corticosteroid-Resistant Graves' Orbitopathy (Thyroid Eye Disease)

Thyroid Eye Disease | Ophthalmopathy | Orbitopathy, Graves

Poland
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

phenotypeS in Non Ambulant Duchenne Muscular Dystrophy (GUP21003)

Duchenne Muscular Dystrophy | Natural History | Motor Function; Retardation

Italy
Harmony Biosciences, LLC

Recruiting

A Study of Pitolisant in Patients With Prader-Willi Syndrome

Prader-Willi Syndrome

United States
St. Jude Children's Research Hospital
National Heart, Lung, and Blood Institute (NHLBI)

Not yet recruiting

School Readiness Intervention for Preschool Children With Sickle Cell Disease

Sickle Cell Disease

United States
Instituto de Investigación Hospital Universitario...

Recruiting

Optimization of Atopic Dermatitis Treatment That Requires Second-line Systemic Therapy Through Predictive Models

Atopic Dermatitis

Spain
University of Kansas Medical Center

Not yet recruiting

Targeting Inflammation With Losartan to Improve Response to Modulator Therapy in Cystic Fibrosis.

Cystic Fibrosis

United States
Children's Hospital of Philadelphia

Not yet recruiting

ALS20-101 Lentiviral Gene Therapy for Beta Thalassemia

Beta-Thalassemia

United States
AstraZeneca

Recruiting

hATTR Polyneuropathy in Russia (PRIMER)

Hereditary Transthyretin Amyloidosis

Russian Federation
Editas Medicine, Inc.

Not yet recruiting

A Long-Term Follow-Up Study of Participants With Sickle Cell Disease or Transfusion Dependent β-Thalassemia Who Received EDIT-301

Sickle Cell Disease | Hemoglobinopathies | Transfusion-dependent Beta-Thalassemia
Octapharma

Not yet recruiting

Phase 3 Study of IV Human Plasma-derived C1 Esterase Inhibitor Concentrate in Patients With Congenital C1-INH Deficiency for Treatment and Pre-procedure Preventing of Acute Hereditary Angioedema Attacks

Acute Hereditary Angio Edema
University Hospital, Toulouse

Not yet recruiting

Efficacy of Injectable Gentamicin in Hereditary Ichthyosis (GENTIC)

Ichthyosis

France
West China Hospital

Not yet recruiting

AI App for Management of Atopic Dermatitis

Artificial Intelligence | Atopic Dermatitis
Chang Gung University

Recruiting

Electrical Stimulation Cycling Training Effects on SCA

Spinocerebellar Ataxia (SCA)

Taiwan
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
Technoderma Medicines Inc.
Therapeutics, Inc.

Not yet recruiting

Study of TDM-180935 in Atopic Dermatitis Patients

Atopic Dermatitis

United States
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
Alnylam Pharmaceuticals

Not yet 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
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
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
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
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
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

Not yet 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
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
Takeda

Not yet recruiting

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

Hereditary Angioedema (HAE)
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
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
Vertex Pharmaceuticals Incorporated

Not yet recruiting

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

Autosomal Dominant Polycystic Kidney Disease (ADPKD)
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
Corvus Pharmaceuticals, Inc.

Recruiting

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

Atopic Dermatitis

United States

Search clinical trials for: Genetic Diseases, Inborn

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