Clinical trials: Genetics
Gout
Efficacy and Safety of Oral Febuxostat in Participants With Gout
The purpose of this study is to compare the efficacy and safety of febuxostat, once Daily (QD), to allopurinol in subjects with hyperuricemia and gout.
- Trial name
- CONFIRMS (NCT00430248)
- Testing
- Febuxostat, Allopurinol
- Where
- 258 sites in United States
- Volunteers
- 2,269 people
- Sponsor
- Takeda
Wilson's Disease
A Registered Cohort Study on Wilson's Disease
The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of…
- Trial name
- NCT04012658
- Testing
- No intervention
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Hypercholesterolemia
Screening for Hypercholesterolemia in Children Using Dried Blood Spot
Purpose: Heterozygous Familial Hypercholesterolemia (HeFH) is a common genetic disease responsible for premature atherosclerosis.
- Trial name
- CHOLESPOT (NCT05191355)
- Testing
- blood test
- Where
- 2 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Niemann-Pick Disease, Type C
Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1
This is a multicenter, multinational, open-label study of VTS-270 to evaluate the long-term safety and tolerability of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in participants transitioning from Study VTS301 (Parts A/B…
- Trial name
- NCT03879655
- Testing
- VTS-270
- Where
- Costa Rica
- Volunteers
- 2 people
- Sponsor
- Mandos LLC
Mucopolysaccharidosis II
A Study of Tividenofusp Alfa (DNL310) in Pediatric Participants With Hunter Syndrome
This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant enzyme…
- Trial name
- NCT04251026
- Testing
- tividenofusp alfa
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 47 people
- Sponsor
- Denali Therapeutics Inc.
Graves Ophthalmopathy, Thyroid Associated Ophthalmopathy
Treatment of Graves´ophthalmopathy with Simvastatin (GO-S)
In an investigator initiated multicenter trial (Malmö, Odense, Århus) the investigators aim at evaluating activity of Graves´ophthalmopathy (GO) and progress to severe GO in patients with mild to moderate Graves´ ophthalmopathy…
- Conditions
- Graves Ophthalmopathy, Thyroid Associated Ophthalmopathy, Thyroid Associated Orbitopathy
- Trial name
- NCT03131726
- Testing
- Simvastatin 40mg
- Where
- Sweden
- Volunteers
- 80 people
- Sponsor
- Lund University
Vaso-occlusive Pain Episodes
Arginine Therapy in Sickle Cell Disease-VOC Clinical Trial
Vaso-occlusion contributes significantly to morbidity in sickle cell disease (SCD). Vaso-occlusive painful episodes (VOE) are common and debilitating, causing the majority of emergency department visits.
- Trial name
- NCT01796678
- Testing
- Arginine
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Prader Willi Syndrome, Hyperphagia
Functional Connectome in Prader-Willi Syndrome: Neuroimaging and AI to Assess Therapeutic Impact
The goal of this observational study is to explore brain network changes and identify patterns related to hyperphagia, hormonal treatment effects, and cognitive deficits in adults with Prader-Willi Syndrome (PWS).
- Conditions
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- Trial name
- NCT06900335
- Testing
- GH treatment (Somatropin), Eating
- Where
- Spain
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Diabetic Retinopathy, Sickle Cell Trait
Diabetic Retinopathy and Sickle Trait
To more clearly ascertain the relationship between ocular manifestations of sickle cell disease and diabetes, specifically; whether the presence of sickle cell trait exacerbates the disease progression of diabetic retinopathy.
- Trial name
- NCT00720317
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Medical University of South Carolina
Skin Laxity, Skin Aging
Cucurbita Pepo Flowers Extract to Promote Skin Health
The aim of this cosmetic clinical trial is to learn if an extract of Cucurbita pepo flower (CpLfe) works to enhance skin health and resilience in adult women with photo-damage.
- Conditions
- Skin Laxity, Skin Aging, Skin Wrinkling
- Trial name
- EACpLfe22S01 (NCT06674005)
- Testing
- Cucurbita pepo L. Flowers Extract
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Ritamaria Di Lorenzo
Anemia
A Study to Determine the Efficacy and Safety of Luspatercept in Adult Participants and to Evaluate the Safety and Pharmacokinetics in and Adolescent Participants With Alpha (α)-Thalassemia
The purpose of the study is to evaluate the efficacy and safety of luspatercept plus best supportive care (BSC) vs placebo plus BSC on anemia in adult participants with α-thalassemia hemoglobin H (HbH) disease and determine the…
- Trial name
- NCT05664737
- Testing
- Luspatercept
- Where
- 31 sites in China, Greece and 8 more
- Volunteers
- 189 people
- Sponsor
- Bristol-Myers Squibb
IBS, Diarrhea Predominant
Transcutaneous Electrical Acustimulation for IBS-D: A Multicenter Study
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by recurrent abdominal pain and altered bowel habits.
- Trial name
- NCT07425145
- Testing
- Portable stimulator
- Where
- China
- Volunteers
- 200 people
- Sponsor
- First People's Hospital of Foshan
Cystic Fibrosis (CF)
Ensuring Access to Optimal Therapy in CF: The ENACT Study
This clinical trial is examining the action and effects of several new drugs in the treatment of cystic fibrosis in children. In addition, several genetic factors are examined.
- Trial name
- ENACT (NCT07148739)
- Testing
- Elexacaftor / Ivacaftor / Tezacaftor, therapeutic drug monitoring
- Where
- 3 sites in United States
- Volunteers
- 100 people
- Sponsor
- Arkansas Children's Hospital Research Institute
Hemophilia A
Moroctocog Alfa (AF-CC) for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Hemophilia A Patients
Moroctocog-alfa (AF-CC) is indicated for the control and prevention of hemorrhagic episodes and for routine and surgical prophylaxis in patients with hemophilia A (congenital factor VIII deficiency or classic hemophilia).
- Trial name
- NCT04396639
- Testing
- Moroctocog-alfa (AF-CC)
- Where
- 5 sites in India
- Volunteers
- 50 people
- Sponsor
- Pfizer
Charcot-Marie-Tooth Disease, Hereditary Neuropathy With Hypersensitivity to Pressure
EVALUATION OF SERUM INFLAMMATORY CYTOKINE CONCENTRATION IN HEREDITARY SENSITIVOMOTOR NEUROPATHIES
The most common forms of hereditary neuropathy are Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with hypersensitivity to pressure (HNPP) or tomacular neuropathy.
- Trial name
- CytokinesUS (NCT06808581)
- Testing
- blood test for pro-inflammatory cytokines and ultrasound of the median nerves
- Where
- 2 sites in France
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Nice
Vascular Anomaly, Osler Rendu Disease
Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
There are no prospective studies of pregnancies for the diseases studied here in (Heredity Hemorrhagic Telangiectasia, Marfan syndrome or related, primary lower limb lymphedema, superficial arteriovenous malformations, and…
- Conditions
- Vascular Anomaly, Osler Rendu Disease, Marfan Syndrome or Related, Lymphedema Primary
- Trial name
- COGRare5 (NCT04194619)
- Testing
- Questionnaire
- Where
- 37 sites in France
- Volunteers
- 400 people
- Sponsor
- Hospices Civils de Lyon
Cystic Fibrosis (CF), Non Cystic Fibrosis Bronchiectasis
Feasibility and Acceptance of SonoHeal for Airway Clearance and Preliminary Comparison With the Standard of Care
The proposed study is to gauge the early feasibility and acceptance of the SonoHeal device. The study will evaluate the usability of the SonoHeal prototype using well-established Human Factors Engineering methods recommended by…
- Conditions
- Cystic Fibrosis (CF), Non Cystic Fibrosis Bronchiectasis, Chronic Obstructive Pulmonary Disease (COPD)
- Trial name
- NCT07568119
- Testing
- Airway clearance therapy through acoustic oscillations
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Cognita Labs LLC
Von Hippel Lindau Disease
MSD Belzutifan PAS
This is a prospective observational cohort study evaluating the effectiveness and safety of belzutifan treatment in routine clinical practice.
- Trial name
- NCT06554730
- Testing
- Belzutifan
- Sponsor
- Merck Sharp & Dohme LLC
Obesity
Genetics, Metabolism and Weight Loss in Older, Obese Veterans
This study is designed to determine whether sequence variation in the lipoprotein lipase (LPQ) gene affects the amount of weight loss and metabolic responses during a hypocaloric diet treatment for overweight and obese (BMI=25-35…
- Trial name
- NCT00018330
- Testing
- Weight Loss
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- US Department of Veterans Affairs
Death, Sudden, Cardiac
Genomics of Sudden Cardiac Arrest
Sudden cardiac arrest (SCA) is a sudden, unexpected loss of heart function. It is a leading cause of death, and more than 400,000 people in the United States die each year as a result of SCA.
- Trial name
- GenSCA (NCT00661128)
- Where
- United States
- Volunteers
- 14,862 people
- Sponsor
- University of Washington