Clinical Trials on Rare Genetic Disorders

Total 242528 results

Pfizer

Completed

BeneFIX Drug Use Results Survey [All-Case Surveillance]

Hemophilia B

Japan
Nova Mentis Life Science Corp
FourthWall Testing

Recruiting

Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome

Autism Spectrum Disorder | Fra(X) Syndrome

United States
Novo Nordisk A/S

Completed

A Long-term Assessment of Physical Activity, Range of Motion, and Functional Status Following Elective Orthopedic Surgery in Hemophilia Patients With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used in Patients With Haemophilia A and B With Inhibitors Under Normal Clinical Practice

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Novo Nordisk A/S

Completed

Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors (ONE)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Saudi Arabia, Algeria, Turkey, Germany, Poland, Netherlands, Italy, Belgium, South Africa, United Kingdom, Sweden, Austria, Portugal, France, Czech Republic, Venezuela
Hasan Kalyoncu University

Not yet recruiting

Viscoelastic Properties of Lower Extremity Muscles in Patients With Hemophilia

Hemophilia A | Hemophilia B | Hemophilia

Turkey
Assiut University

Not yet recruiting

Patterns of Hemophilia Care in Assiut Children Patients

Hemophilia A | Hemophilia B
ApcinteX Ltd
Centessa Pharmaceuticals plc

Recruiting

The Efficacy and Safety of SerpinPC in Participants With Severe Hemophilia A or Moderately Severe to Severe Hemophilia B (PRESent-2)

Hemophilia A | Hemophilia B

United States, Italy, Spain, Taiwan, Australia, Belgium, United Kingdom, France, Germany, India, South Africa, Canada, Poland, Armenia, Turkey
Institute of Hematology & Blood Diseases Hospital

Not yet recruiting

A Study to Evaluate the Safety and Efficacy of ZS801 in Adult Hemophilia B Patients

Hemophilia B

China
Regeneron Pharmaceuticals

Recruiting

A Trial That Evaluates Disease Characteristics in Hemophilia B Adult Male Participants Receiving Prophylaxis With Standard of Care Factor IX Protein (FIX) Replacement Therapy (Honey-B)

Hemophilia B

United States, Germany, United Kingdom, Canada
Genzyme, a Sanofi Company

Completed

An Open-label Extension Study of an Investigational Drug, Fitusiran, in Patients With Moderate or Severe Hemophilia A or B

Hemophilia A | Hemophilia B

Bulgaria, United States, United Kingdom, Russian Federation, Switzerland
St. Jude Children's Research Hospital
Children's Hospital of Philadelphia; National Heart, Lung, and Blood Institute... and other collaborators

Active, not recruiting

Dose-Escalation Study Of A Self Complementary Adeno-Associated Viral Vector For Gene Transfer in Hemophilia B

Hemophilia B

United States, United Kingdom
Swedish Orphan Biovitrum
IQVIA Pvt. Ltd

Terminated

An 18-month Low-interventional Study to Assess Joint Health in Haemophilia A and B Patients on Prophylaxis With Efmoroctocog Alfa or Eftrenonacog Alfa (JOIN-us)

Hemophilia A | Hemophilia B

Bulgaria, Croatia, Czechia, France, Hungary, Ireland, Italy, Romania, Slovenia, Spain, United Kingdom
Freeline Therapeutics

Terminated

Phase 1/2 Dose Confirmation Study of FLT180a in Hemophilia B

Hemophilia B

United States, United Kingdom
University College, London

Terminated

A Factor IX Gene Therapy Study (FIX-GT) (FIX-GT)

Hemophilia B

Ireland, United Kingdom, Italy, United States
CSL Behring

Completed

Trial of AAV5-hFIX in Severe or Moderately Severe Hemophilia B

Hemophilia B

Germany, Denmark, Netherlands
Genzyme, a Sanofi Company

Completed

A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients With Inhibitors (ATLAS-INH)

Hemophilia A | Hemophilia B

United States, Australia, Canada, China, France, Korea, Republic of, Malaysia, Turkey, Ukraine, United Kingdom, Germany, India, Italy, Japan, South Africa, Spain, Taiwan
Genzyme, a Sanofi Company

Completed

A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients Without Inhibitors

Hemophilia A | Hemophilia B

United States, Australia, China, Denmark, France, Israel, Japan, Korea, Republic of, Malaysia, Turkey, Ukraine, United Kingdom, Germany, India, South Africa, Spain, Taiwan, Hungary, Italy
Sangamo Therapeutics

Terminated

Ascending Dose Study of Genome Editing by Zinc Finger Nuclease Therapeutic SB-FIX in Subjects With Severe Hemophilia B

Hemophilia B

United States
Catalyst Biosciences

Completed

Study of Next-Generation Recombinant Factor IX Variant in Adult Subjects With Hemophilia B

Hemophilia B

South Africa
Baxalta now part of Shire

Completed

Post-Marketing Surveillance (Usage Results Study) of RIXUBIS in Adult and Pediatric Patients With Haemophilia B in South Korea

Hemophilia B

Korea, Republic of
Baxalta now part of Shire

Completed

Non-Interventional Study to Capture the Patient Experience on Gene Therapy for Hemophilia Within the AskBio009-101 Study Through Patient and Investigator Interviews

Hemophilia B

United States
Medexus Pharma, Inc.

Completed

Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B

Hemophilia B

United States, France, United Kingdom, India, Israel, Italy, Poland
Baxalta now part of Shire

Completed

Study of Prophylaxis, ACtivity and Effectiveness (SPACE) in Hemophilia Patients Currently Treated With ADVATE or RIXUBIS (SPACE)

Hemophilia A | Hemophilia B

United States
ISU Abxis Co., Ltd.
Catalyst Biosciences

Completed

Dose-escalation Study to Investigate the Safety, PK, and PD of ISU304/CB2679d in Hemophilia B Patients

Hemophilia B

Korea, Republic of
Pfizer

Completed

A Gene Therapy Study for Hemophilia B

Hemophilia B

United States, Australia
Bayer

Completed

A Single Escalating Dose and Multiple Dose Study of BAY 1093884 in Subjects With Severe Hemophilia Types A or B, With or Without Inhibitors

Hemophilia A | Hemophilia B

Ukraine, United Kingdom, Bulgaria, Germany, Japan
Royal Free Hospital NHS Foundation Trust

Unknown

UK - EHL Outcomes Registry

Hemophilia A | Hemophilia B

United Kingdom
Nationwide Children's Hospital

Completed

Virtual Reality for Hemophilia

Hemophilia A | Hemophilia B

United States
CSL Behring

Completed

A Safety, Efficacy and Pharmacokinetics Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Children With Hemophilia B

Hemophilia B

Germany, Australia, Italy, Israel, Czech Republic, Spain, France, Canada, Austria, Russian Federation
Pfizer

Completed

Study To Compare On-Demand Treatment To A Prophylaxis Regimen Of BeneFIX In Subjects With Moderately Severe to Severe Hemophilia B

Hemophilia B

Canada, Singapore, Turkey, Croatia, Korea, Republic of, Mexico, Poland, Bulgaria, Malaysia
Pfizer

Completed

Post Marketing Observational Study of Reformulated BeneFIX

Hemophilia B

France
CSL Behring

Completed

Safety and Pharmacokinetic Study of a Recombinant Coagulation Factor IX Albumin Fusion Protein in Subjects With Hemophilia B

Hemophilia B

Spain, Italy, France, Germany, Austria, Israel
Wyeth is now a wholly owned subsidiary of Pfizer

Completed

Study Evaluating On-Demand Treatment With BeneFIX In Chinese Subjects

Hemophilia B

China
Wyeth is now a wholly owned subsidiary of Pfizer

Completed

Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B

Hemophilia B
Children's Hospital Medical Center, Cincinnati
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Recruiting

Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders (ENTRAIN)

Autism Spectrum Disorder | Autistic Disorder | Fragile X Syndrome | Asperger Syndrome

United States
University Hospital, Tours

Completed

Glutaminergic Transmission in Autism : Molecular Imaging Exploration (TANGAU)

Healthy Volunteers | Autism | Fragile-X Syndrome (FXS)

France
Kaiser Permanente
National Human Genome Research Institute (NHGRI)

Completed

Clinical Implementation of Carrier Status Using Next Generation Sequencing (NextGen)

Genetic Disorders

United States
Abbott Molecular

Unknown

Reproducibility of the Array-Based Comparative Genomic Hybridization (aCGH) System Using Whole Blood Samples

Genetic Disorders
Boston Children's Hospital

Recruiting

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

Genetic Predisposition to Disease | Genetic Disease | Development, Infant | Genetic Syndrome | Development, Child

United States
Novo Nordisk A/S

Completed

Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States
Novo Nordisk A/S

Completed

A Trial Evaluating the Efficacy and Safety of Prophylactic Administration of Concizumab in Haemophilia A and B Patients With Inhibitors (explorer™4)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States, Austria, Spain, Japan, Croatia, Italy, United Kingdom, Israel, Sweden, Ukraine, Malaysia, Greece, Denmark, Canada
Novo Nordisk A/S

Completed

Pharmacogenetic Testing of Saliva Samples From Patients With Five or More Exposure Days to rFVIIa Analogue in the Adept™2 Trial

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States, Serbia, Malaysia, Thailand, Greece, Japan, Romania
Novo Nordisk A/S

Completed

Safety and Efficacy of 3 Different Doses of Long Acting Factor VII in Haemophilia A or B Patients With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

France, United States, Sweden, Serbia, Turkey, United Kingdom, Malaysia, Brazil, Former Serbia and Montenegro, Japan, South Africa
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Novo Nordisk A/S

Completed

Trial of NovoSeven® in Haemophilia - Joint Bleeds

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

United States
Novo Nordisk A/S

Completed

PROPACT: Retrospective Prophylaxis Patient Case Collection (PROPACT)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Slovakia, Spain, Argentina, Germany, Croatia, Italy, Canada, United Kingdom, Ireland, Sweden, France, United States, Czech Republic, Switzerland
University Hospital, Ghent

Completed

Genetic Screening and Assisted Oocyte Activation in Couples With Diminished/Aberrant Embryonic Development. (AOA)

Genetic Disease | Embryo | Embryo Disorder

Belgium
Stanford University

Terminated

Neuroimaging GABA Physiology in Fragile X Syndrome

Fragile X Syndrome (FXS) | Idiopathic Intellectual Developmental Disorder (IDD)

United States
National Taiwan University Hospital

Completed

Assessment of Nutritional and Growth Status in Rett Syndrome Patients

Neurologic Disorder | Rett Syndrome

Clinical Trials on Rare Genetic Disorders

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Mauritania

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

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