Search clinical trials for: Genetic Disease, Inborn

Total 18615 results

Region Stockholm
Karolinska Institutet

Recruiting

CFTR Modulators in Pregnancy and Postpartum

Cystic Fibrosis

Sweden
ARTHEx Biotech S.L.

Not yet recruiting

Study of ATX-01 in Participants With DM1 (ArthemiR)

Myotonic Dystrophy 1
PTC Therapeutics

Recruiting

A Study of Sepiapterin in Participants With Phenylketonuria (PKU) (EPIPHENY)

Phenylketonuria

United States
Shanghai Institute Of Biological Products
The First Affiliated Hospital of Henan University of Science and Technology; First Affiliated Hospital Bengbu Medical College and other collaborators

Recruiting

A Phase Ib Clinical Trial of Peguricase for Injection With Methotrexate in Patients With Uncontrolled Gout.

Gout

China
metaX Institut fuer Diatetik GmbH
Great Ormond Street Hospital for Children NHS Foundation Trust; Birmingham...

Not yet recruiting

Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies (ZeroMinisMR)

Alkaptonuria | Homocystine; Metabolic Disorder | Tyrosinemia, Type I | Tyrosinemia, Type II | Tyrosinemia, Type III | MSUD (Maple Syrup Urine Disease)
Chia Tai Tianqing Pharmaceutical Group Nanjing...

Not yet recruiting

A Clinical Study of Recombinant Human Coagulation Factor VIII for Injection in Patients With Severe Hemophilia A

Hemophilia A

China
Bioray Laboratories
Xiangya Hospital of Central South University; Sun Yat-Sen Memorial Hospital... and other collaborators

Not yet recruiting

Long-term Follow-up Study of BRL-101 for TDT

Thalassemia, Beta

China
Spark Therapeutics, Inc.

Recruiting

Study of a Gene Therapy Treatment for Hemophilia A (KEYSTONE 1)

Hemophilia A

United States
John Elfar

Not yet recruiting

4AP to Delay Carpal Tunnel Release (CTR) (CTR)

Carpal Tunnel Syndrome | Compression Neuropathy
Lise Aksglæde

Not yet recruiting

Klinefelter Syndrome and Testosterone Treatment in Puberty (TiPY)

Klinefelter Syndrome
University of Pittsburgh
National Heart, Lung, and Blood Institute (NHLBI); Cystic Fibrosis Foundation

Recruiting

Health Outcomes of Parents With Cystic Fibrosis-Aim 2 (HOPeCF)

Cystic Fibrosis | Parenthood Status

United States
Istituto Auxologico Italiano

Recruiting

Short Stature and Psychological Well-being (PSICOSHORT)

Short Stature | Short; Stature, Psychosocial

Italy
Assiut University

Not yet recruiting

Relation Between Nail Fold Capillaroscopy, Optical Coherence Tomography Angiography, and Femoral Vein Wall Thickness in Behçet's Disease Relation Between Nail Fold Capillaroscopy, Optical Coherence Tomography Angiography, and Femoral Vein Wall Thickness in Behçet's Disease

Behçet's Disease
Istituto Auxologico Italiano

Recruiting

Evaluation of the Psychological Profile of Adult Patients With Prader-Willi Syndrome (PROPSICOPWS)

Prader-Willi Syndrome

Italy
Istituto Auxologico Italiano

Recruiting

Biological Age in Children With GH Deficiency Undergoing Hormone Replacement Therapy (ETABIOGHD)

Growth Hormone Deficiency | Short Stature

Italy
IRCCS Fondazione Stella Maris

Recruiting

Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome

Fragile X Syndrome

Italy
Zhongmou Therapeutics

Not yet recruiting

Safety and Efficacy Study of Novel Gene Therapy ZM-02 for Retinitis Pigmentosa Patients (ZM-02)

Retinitis Pigmentosa

China
Suzhou Municipal Hospital

Not yet recruiting

Safety and Efficacy Study of NGGT006 in Refractory Hypercholesterolemia Patients

Familial Hypercholesterolemia | Refractory Hypercholesterolemia
ViGeneron GmbH

Recruiting

Safety and Tolerability of Intravitreal Administration of VG901 in Patients With Retinitis Pigmentosa Due to Mutations in the CNGA1 Gene

Retinitis Pigmentosa

Germany
Halic University

Recruiting

Development,Validity and Reliability of a Caregiver Version of the Breathlessness Beliefs Questionnaire

Cystic Fibrosis | Parents

Turkey
CorrectSequence Therapeutics Co., Ltd

Recruiting

A Safety and Efficacy Study Evaluating CS-101 in Subjects With β-Thalassemia Major

Beta-Thalassemia Major

China
Steen Hvitfeldt Poulsen
Novo Nordisk A/S

Recruiting

Phenotyping and Characterization of wtATTR-CM (TRACE 1)

Quality of Life | Transthyretin Amyloidosis | Transthyretin Amyloid Cardiomyopathy | Wild-Type Transthyretin-Related (ATTR)Amyloidosis

Denmark
Children's Hospital Medical Center, Cincinnati
Children's Hospital of Philadelphia; Emory University; Nemours Children's Health...

Not yet recruiting

A Socio-ecological Approach for Improving Self-management in Adolescents With SCD (SC-Thrive)

Anemia, Sickle Cell
Rege Nephro Co., Ltd.

Recruiting

Study of Tamibarotene in Patients With ADPKD

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Japan
University Hospital, Rouen

Not yet recruiting

Safety of RotigotiNe in Patients With Autosomal Dominant Polycystic Kidney Disease (ETERNAL-PKD)

Kidney Diseases
University of Florida
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Not yet recruiting

Vasodilator and Exercise Study for DMD (VASO-REx)

Muscular Dystrophy | Exercise | Duchenne Muscular Dystrophy | Vasodilation | DMD | Muscular Dystrophy in Children | Duchenne Disease
South Egypt Cancer Institute
Assiut University; Shefa Al-orman Children Cancer Hospital

Recruiting

Study of Wilms Tumors Among Patients of Shefa Al-Orman Children Cancer Hospital

Wilms Tumor

Egypt
Ondokuz Mayıs University

Recruiting

The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence

Quality of Life | Urinary Incontinence | Menopause | Wolman Disease | Psychological Well-Being

Turkey
Staidson (Beijing) Biopharmaceuticals Co., Ltd

Recruiting

Safety and Efficacy of STSP-0601 in Adult Patients With Hemophilia A or B With Inhibitor

Hemophilia

China
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience. (ANNPHE)

Phenylketonuria

France
UMC Utrecht
Alfasigma S.p.A.; ReumaNederland; Autoimmune Research and Collaboration Hub

Not yet recruiting

Drug Rediscovery for Rare Immune Mediated Inflammatory Diseases (DRIMID)

IgG4-related Disease | Idiopathic Inflammatory Myopathies | Behcet's Disease

Netherlands
Oslo University Hospital

Recruiting

Quality of Life and Gut Health in Pediatric Patients With Cystic Fibrosis

Cystic Fibrosis in Children

Norway
Bioray Laboratories
Chinese Academy of Medical Sciences

Not yet recruiting

Clinical Study on the Safety and Efficacy of BRL-101 in the Treatment of Sickle Cell Disease

Sickle Cell Disease
Agios Pharmaceuticals, Inc.

Not yet recruiting

A Study of Mitapivat in Participants With Sickle Cell Disease and Nephropathy

Sickle Cell Disease | Nephropathy
Bioray Laboratories
Nanfang Hospital, Southern Medical University

Not yet recruiting

Clinical Study of BRL-101 in the Treatment of Sickle Cell Disease

Sickle Cell Disease
Investigación en Hemofilia y Fisioterapia

Not yet recruiting

Changes in Intra-articular Parameters by Doppler Ultrasound in Patients With Hemophilic Ankle Arthropathy

Hemophilia

Spain
Specila hospital for cerebral palsy and developmental...
FRAXA Research Foundation

Recruiting

Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome

Fragile X Syndrome

Serbia
Kirsehir Ahi Evran Universitesi
TC Erciyes University

Not yet recruiting

An Intervention-Based Approach to Strengthen the Psychological Health of Children With Cystic Fibrosis and Their Mothers

Children | Cystic Fibrosis | Lung Functions | Mothers | Laughter Yoga | Laughter Therapy | Resilience,Psychological | Psychological Health

Turkey
Perha Pharmaceuticals
Göteborg University; Proteas Bioanalytics

Recruiting

Phosphoproteomic Profile of Children With Down Syndrome (PEPS)

Down Syndrome

France
BioMarin Pharmaceutical

Recruiting

A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Spain, United Kingdom
Kanglin Biotechnology (Hangzhou) Co., Ltd.

Not yet recruiting

A Phase I/II Clinical Study of the KL003 Cell Injection in β-Thalassemia Major Participants

Transfusion-dependent Beta-Thalassemia

China
Meyer Children's Hospital IRCCS

Recruiting

Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies

Epilepsy | Genetic Disease

Italy
Assiut University

Not yet recruiting

Vascular Affection in Behcet Disease

Behcet Disease and Vascular Involvement
Eli Lilly and Company

Not yet recruiting

A Study of Lebrikizumab (LY3650150) With/Without Topical Corticosteroid Treatment in Participants With Moderate-to-Severe Atopic Dermatitis

Atopic Dermatitis

China, Korea, Republic of
Keymed Biosciences Co.Ltd

Not yet recruiting

Study of CM310 Injection in Adolescent Subjects With Atopic Dermatis

Atopic Dermatitis

China
University Hospital, Toulouse

Not yet recruiting

Adolescent Projections During Transition in Prader-Willi Syndrome (APT-WILL)

Prader-Willi Syndrome

France
Lynk Pharmaceuticals Co., Ltd

Recruiting

A Phase 3 Study of LNK01001 Capsule in Subjects With Moderate to Severe Atopic Dermatitis.

Atopic Dermatitis

China
Pilar Azevedo
Queen's University, Belfast; Medical University Innsbruck; Cystic Fibrosis Foundation and other collaborators

Recruiting

COVID-19 Antibody Responses In Cystic Fibrosis (CAR-CF)

COVID-19 | Cystic Fibrosis

Portugal
Novilla Pharmaceuticals

Not yet recruiting

Treatment of Topical Ketorolac Gel in Acute Gouty Flare

Acute Pain | Gout Flare | Acute Gouty Arthritis

Australia
Radboud University Medical Center
Enzyre B.V.

Not yet recruiting

Version Testing of EnzySystem Version A for Hemophilia A

Hemophilia A

Netherlands

Search clinical trials for: Genetic Disease, Inborn

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