Clinical trials: Genetics Syndrome
Familial Mediterranean Fever
Health-related Quality of Life, Electrocardiographic and Holter Findings in Children With Familial Mediterranean Fever
Familial Mediterranean fever (FMF) also known as 'periodic peritonitis,' 'familial paroxysmal polyserositis,' 'periodic disease,' 'Siegal-Cattan-Mamou disease,' 'Wolff periodic disease' or 'Reimann syndrome' is an autosomal…
- Trial name
- NCT07128225
- Where
- Egypt
- Volunteers
- 100 people
- Sponsor
- Sohag University
Acute Coronary Syndrome
Identification of Clopidogrel CYP2C19 Metabolizer and Thienopyridine Treatment After an Acute Coronary Syndrome
To demonstrate that a strategy of fast genetic testing performed in outpatient clinic allows to select adequately one of the 2 antiplatelet treatments approved in the same indication (ACS with PCI - prasugrel 10mg MD or…
- Trial name
- GAMMA (NCT01390974)
- Where
- France
- Volunteers
- 270 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Retinoblastoma
Photoscreening for Retinoblastoma
Retinoblastoma is the most common pediatric eye malignancy and manifests between 1 and 5 years of age. The tumor is most often diagnosed by leukocoria ( white reflex in the pupil).
- Trial name
- NCT04344652
- Testing
- Photoscreening -
- Volunteers
- healthy volunteers welcome
- Sponsor
- Phoenix Children's Hospital
Stargardt Disease 1, STGD1
A Phase 1, First-in-Human Study of CITY-RBP4 in Healthy Volunteers and STGD1 Participants
This is a first-in-human (FIH), multicenter, randomized, double-masked, placebo-controlled adaptive clinical study evaluating the safety, tolerability, pharmacokinetic (PK), and pharmacodynamic (PD) of CITY-RBP4, following…
- Conditions
- Stargardt Disease 1, STGD1, Healthy Volunteers
- Trial name
- NCT07836452
- Testing
- CITY-RBP4
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- City Therapeutics
Severe Trauma
Predictors of Hypofibrinogenemia in Severe Trauma
In this retrospective and prospective study, the aim is to determine a score for predicting a fibrinogen <1.5g/L (corresponding to European threshold of Directors recommendations of fibrinogen concentrates)
- Trial name
- NCT03020849
- Where
- 2 sites in France
- Volunteers
- 1,038 people
- Sponsor
- Hospices Civils de Lyon
Atopic Dermatitis
Safety, PK, PD, and Clinical Activity of Orally Administered KT-621 in Adult Patients With Atopic Dermatitis (AD)
This is a study to evaluate safety, tolerability, pharmacokinetics, pharmacodynamics, and clinical activity of orally administered KT-621 in adult male and female patients with moderate to severe atopic dermatitis (AD).
- Trial name
- BroADen (NCT06945458)
- Testing
- KT-621
- Where
- 12 sites in United States
- Volunteers
- 22 people
- Sponsor
- Kymera Therapeutics, Inc.
Behcet's Syndrome
Ivarmacitinib for Refractory Behcet's Syndrome
Behcet's syndrome (BS) is a multisystem autoimmune vasculitis. Current clinical treatment primarily includes glucocorticoids, immunosuppressants, and molecularly targeted drugs such as TNF-α and IL-6 inhibitors; however, some…
- Trial name
- NCT07634848
- Testing
- Ivarmacitinib
- Where
- China
- Sponsor
- Liu Tian
Autoimmune Diseases, Rheumatoid Arthritis (RA)
Study of S-4321 in Participants With an Autoimmune or Immune-mediated Disease
This is a multi-center, open-label Ph 1b basket study to assess safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), immunogenicity, biomarker response, and preliminary efficacy of multiple doses of S-4321 in…
- Conditions
- Autoimmune Diseases, Rheumatoid Arthritis (RA), Psoriatic Arthritis (PsA), Psoriasis (PsO)
- Trial name
- NCT07455578
- Testing
- S-4321
- Where
- 2 sites in Australia
- Volunteers
- 24 people
- Sponsor
- Seismic Therapeutic AU Pty Ltd
Severe Hemophilia A
A Study to Evaluate the Pharmacokinetics，Safety and Tolerability of PEG Recombinant Human Coagulation Factor VIII-Fc Fusion Protein for Injection
The primary objectives of the study are to evaluate the Pharmacokinetics，Safety and tolerability of PEG Recombinant Human Coagulation Factor VIII-Fc Fusion Protein for Injection (FRSW117) in patients with severe hemophilia A.
- Trial name
- NCT04864743
- Testing
- ADVATE, FRSW117
- Where
- 4 sites in China
- Volunteers
- 13 people
- Sponsor
- Hangzhou Gensciences Biopharmaceutical Co., Ltd.
Hyper-Immunoglobulin E. Syndrome (HEIS), Chronic Granulomatous Disease (CGD)
Skin Immunity Sample Collection Involving Blisters and Biopsies
Background: The way the body heals and protects itself from getting sick is called the immune response. Some people with weak immune systems get sick often or get rashes and skin infections.
- Trial name
- NCT03921515
- Testing
- Blister induction, Skin Biopsies
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Polycystic Kidney Disease
PKD Clinical and Translational Core Study
Advances in our understanding of the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) have opened up possibilities of new therapies to prevent disease progression.
- Trial name
- NCT01873235
- Where
- United States
- Volunteers
- 350 people
- Sponsor
- University of Maryland, Baltimore
Osteogenesis Imperfecta
A First-in-Human Study Evaluating AGA2115 in Adult Healthy Volunteers
To understand if AGA2115 is safe and well tolerated in healthy adult volunteers.
- Trial name
- NCT06086613
- Testing
- AGA2115
- Where
- United States
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Angitia Incorporated Limited
Hemophilia A, Prophylaxis of Bleeding
An Observational Study Called JOIHA to Learn More About How Well the Treatment With Jivi Works to Prevent Problems With Joints in Adults With Hemophilia A.
This is an observational study in which data from people with hemophilia A who decide on their own or by recommendation of their doctors to take Jivi are collected and studied.
- Trial name
- JOIHA (NCT05643560)
- Testing
- Damoctocog alfa pegol (Jivi, BAY94-9027)
- Where
- Italy
- Volunteers
- 33 people
- Sponsor
- Bayer
Thyroid Eye Disease
Efficacy and Safety of Lonigutamab in Subjects With Thyroid Eye Disease (TED)
Phase 1/2, multicenter, multiple dose clinical study designed to evaluate lonigutamab in subjects with TED.
- Trial name
- TED (NCT05683496)
- Testing
- lonigutamab
- Where
- 11 sites in United States, Australia
- Volunteers
- 31 people
- Sponsor
- ACELYRIN Inc.
Chronic Gout Refractory to Conventional Therapy
Re-exposure Study of Pegloticase Intravenous (i.v.) in Symptomatic Gout Patients
The purpose of the study is to evaluate the safety and clinical effect of re-exposure to a 24 week course of treatment of pegloticase i.v. in subjects whose last exposure to pegloticase i.v.
- Trial name
- NCT00675103
- Testing
- pegloticase 8 mg i.v.
- Where
- 4 sites in United States
- Volunteers
- 7 people
- Sponsor
- Savient Pharmaceuticals
Ischemic Optic Neuropathy, Branch Retinal Artery Occlusion
New Non-invasive Modalities for Assessing Retinal Structure and Function
This study investigates a new technology to assess the structure and function inside the eye. Retinal imaging of subjects with inner and outer retinal defects to detect areas of abnormal structure and function compared to other…
- Conditions
- Ischemic Optic Neuropathy, Branch Retinal Artery Occlusion, Hemianopia, Leber Hereditary Optic Neuropathy
- Trial name
- NCT03475173
- Testing
- LSFG-NAVI
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Randy Kardon
Duchenne Muscular Dystrophy
Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a genetic disorder caused by an absence of dystrophin and characterized by progressive muscle degeneration.
- Trial name
- NCT02285673
- Testing
- Umbilical Cord Mesenchymal Stem Cell
- Where
- Turkey (Türkiye)
- Volunteers
- 10 people
- Sponsor
- Acibadem University
Duchenne Muscular Dystrophy (DMD)
Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping
The primary purpose of this study is to evaluate the safety, tolerability, and dystrophin protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy…
- Trial name
- DELIVER (NCT05524883)
- Testing
- DYNE-251
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 86 people
- Sponsor
- Dyne Therapeutics
Dermatitis Atopic
A Study to Evaluate the Efficacy and Safety of Subcutaneous Amlitelimab Monotherapy Compared With Placebo in Participants Aged 12 Years and Older With Moderate-to-severe Atopic Dermatitis
This is a parallel group, Phase 3, multinational, multicenter, randomized, double blind, placebo-controlled, 3-arm monotherapy study for treatment of participants diagnosed with moderate to severe atopic dermatitis (AD), whose…
- Trial name
- COAST 1 (NCT06130566)
- Testing
- Amlitelimab
- Where
- 148 sites in United States, Argentina and 13 more
- Volunteers
- 601 people
- Sponsor
- Sanofi
Rett Syndrome
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Background: Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females.
- Trial name
- NCT00891956
- Where
- 3 sites in United States
- Volunteers
- 426 people
- Sponsor
- National Human Genome Research Institute (NHGRI)