Clinical trials: Genetic Conditions
Aneuploidy, Down Syndrome
Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored…
- Conditions
- Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
- Trial name
- NCT01597063
- Testing
- SEQureDx Trisomy Test
- Where
- 27 sites in United States
- Volunteers
- 3,333 people
- Sponsor
- Sequenom, Inc.
Atopic Dermatitis
Tolerance and Efficacy Open-label Study With RV4421B, in Various Populations With Atopic Dermatitis for 12 Weeks
Pierre Fabre Laboratories have developed a cream with medical device status, RV4421B-EV0407 indicated for the treatment of eczemas, including atopic eczema, contact eczema and chronic hand eczema.
- Trial name
- NCT07014007
- Testing
- RV4421B- EV0407
- Where
- Mauritius
- Volunteers
- 105 people
- Sponsor
- Pierre Fabre Dermo Cosmetique
Obstructive Sleep Apnea
A Pilot Study of Biomarkers in Obstructive Sleep Apnea
Obstructive sleep apnea (OSA) is common and is a risk factor for postoperative complications, including respiratory and cardiac events and delirium.
- Trial name
- Cytokine OSA (NCT02325687)
- Testing
- Lumbar Puncture (Standard-of-Care)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Hospital for Special Surgery, New York
SC Disease, Pain, Chronic
Ketamine Sickle Cell Disease
Sickle cell disease (SCD) often results in acute vaso-occlusive crisis (VOC), an obstruction of blood vessels resulting in ischemic injury and pain.
- Trial name
- SCD (NCT03502421)
- Testing
- Ketamine
- Sponsor
- University of South Florida
Cushing's Syndrome, Pituitary Adenoma
Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex
Lentiginosis refers to groups of diseases marked by the presence of pigmented spots on the skin. These conditions are most commonly associated with multiple tumors and changes in hormone producing glands.
- Conditions
- Cushing's Syndrome, Pituitary Adenoma, Carney Complex, Primary Pigmented Nodular Adrenocortical Disease
- Trial name
- NCT00001452
- Testing
- oCRH
- Where
- United States
- Volunteers
- 1,387 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Gout, Hyperuricemia
Tigulixostat, Phase 3 Study, Placebo Controlled in Gout Patients
The aim of this 6-month randomized multi-regional double-blind parallel group placebo-controlled phase 3 study is to assess the efficacy and safety of three different doses of Tigulixostat in gout patients with hyperuricemia.
- Conditions
- Gout, Hyperuricemia, Gout Flare, Tophi
- Trial name
- EURELIA1 (NCT05586958)
- Testing
- Tigulixostat
- Where
- 52 sites in United States, Georgia and 2 more
- Volunteers
- 354 people
- Sponsor
- LG Chem
Myotonic Dystrophy Type 1, Urinary Incontinence
Pelvic Floor Muscle Training for Women with Myotonic Dystrophy
Myotonic dystrophy type 1 (DM1) is a neuromuscular disease characterized by multisystem manifestations. DM1 can affect the urinary system through the impact of the pelvic floor muscles (PFM).
- Trial name
- NCT06316778
- Testing
- Pelvic floor muscle training
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- Université de Sherbrooke
Sickle Cell Disease
Codeine in Sickle Cell Disease
The objective of this study is to determine if a subject's genetic make-up would affect the treatment response to codeine in subjects with sickle cell disease.
- Trial name
- NCT00174538
- Testing
- Codeine (30 mg)
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- PriCara, Unit of Ortho-McNeil, Inc.
Breast Cancer Screening, Colon Cancer Screening
Bundled Cancer Screening and Genetic Services Navigation
The goal of this study is to test bundled familial cancer risk assessment + multicancer (colorectal + breast) vs. single (breast) cancer navigation, using a wait list control for colorectal cancer screening referral and…
- Conditions
- Breast Cancer Screening, Colon Cancer Screening, Genetics Predisposition
- Trial name
- NCT07228000
- Testing
- Breast cancer screening navigation, Multicancer screening navigation, Usual care genetics referral
- Where
- 2 sites in United States
- Volunteers
- 820 people, healthy volunteers welcome
- Sponsor
- Georgetown University
Familial Adenomatous Polyposis Coli, FAP
Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA
This purpose of this study is to investigate whether the number and size of rectal polyps can be reduced in patients with Familial Adenomatous Polyposis (FAP) by using a highly-purified form of a naturally occurring substance…
- Trial name
- NCT00510692
- Testing
- Eicosapentanoic Acid (EPA), Endoscopy, Biopsies taken
- Where
- United Kingdom
- Volunteers
- 58 people
- Sponsor
- S.L.A. Pharma AG
Friedreich Ataxia
Idebenone to Treat Friedreich's Ataxia
This study will determine whether a drug called idebenone is safe and effective in reducing the level of oxidants that are believed to damage the nervous system and hearts in patients with Friedreich's ataxia.
- Trial name
- NCT00229632
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Atherosclerosis, Coronary Arteriosclerosis
Genetic- and Biological-Markers of Predisposition to Atherosclerosis: Leipzig-Heart Study
Atherosclerotic cardiovascular disease is the major cause of morbidity and mortality in Western societies. It is a complex genetic disorder with many genes involved and significant gene-environment interactions.
- Conditions
- Atherosclerosis, Coronary Arteriosclerosis, Carotid Artery Diseases, Genetic Predisposition to Disease
- Trial name
- LE-Heart (NCT00497887)
- Where
- 2 sites in Germany
- Volunteers
- 4,000 people
- Sponsor
- University of Leipzig
Chronic Pain
Effectiveness, Safety, and Tolerability Study of Oxymorphone Immediate Release (IR) Oral Liquid in Opioid Tolerant Pediatric Subjects
The purpose of this study is to evaluate the effectiveness, tolerability, and safety of oxymorphone immediate release (IR) oral liquid as an analgesic in pediatric subjects having severe to moderate chronic pain.
- Trial name
- NCT01206907
- Testing
- oxymorphone IR
- Sponsor
- Endo USA Inc., a Keenova Therapeutics Company
Atopic Dermatitis (AD)
EFFICACY AND TOLERANCE OF AN EYELID BALM IN COMBINATION WITH TACROLIMUS 0.1% IN PATIENTS WITH EYELID ATOPIC DERMATITIS
The aim of this study is to evaluate the tolerance and efficacy of a new emollient cream specifically dedicated to the eyelid area when applied in association with tacrolimus 0.1% in subjects suffering from eyelid Atopic…
- Trial name
- NCT07819071
- Testing
- Tested Emollient RV5258A, tacrolimus 0.1%
- Where
- Poland
- Volunteers
- 33 people
- Sponsor
- Pierre Fabre Dermo Cosmetique
Amyloidosis Cardiac, Stenosis Coronary
Non-Interventional Study on the Prevalence of Cardiac Amyloidosis in Patients With Higher-Grade Aortic Valve Stenosis - Evaluation Using Echocardiography, Computed Tomography, Tc99-SPECT/CT and Cardiac Magnetic Resonance Imaging (CMR)
Degenerative aortic stenosis (AS) is frequently accompanied by left ventricular hypertrophy and diastolic dysfunction, features that overlap with transthyretin (ATTR) cardiac amyloidosis.
- Conditions
- Amyloidosis Cardiac, Stenosis Coronary, TAVI(Transcatheter Aortic Valve Implantation)
- Trial name
- NIS-TAVI-AMY (NCT07752732)
- Where
- Germany
- Volunteers
- 600 people
- Sponsor
- University Hospital Tuebingen
Lower Urinary Tract Symptoms, Bladder Outlet Obstruction
A Study of Mirabegron (YM178) in Men With Lower Urinary Tract Symptoms (LUTS) and Bladder Outlet Obstruction (BOO)
This study examined the safety, tolerability, and efficacy of mirabegron (YM178) compared to placebo.
- Trial name
- NCT00410514
- Testing
- Mirabegron
- Where
- 27 sites in United States, Canada
- Volunteers
- 200 people
- Sponsor
- Astellas Pharma Inc
Dermatitis, Atopic
Skin Irritation Study of GSK2894512 Cream
GSK2894512 is a novel anti-inflammatory agent that is currently under development for the topical treatment of atopic dermatitis and chronic plaque psoriasis.
- Trial name
- NCT02637206
- Testing
- GSK2894512 Cream, Vehicle Cream, Empty Patch
- Where
- Japan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Prader-Willi Syndrome
Characterization of Serum Proteome in Subjects With Prader Willi Syndrome (PROTEOMARKER)
The lack of serum markers that can be used to identify the levels of steatosis in obese subjects, or that can indicate a rapid progression of the metabolic disease, in which it is very often difficult to perform analyzes with…
- Trial name
- PROTEOMARKER (NCT05761184)
- Testing
- Serum collection for proteomic analysis
- Where
- Italy
- Volunteers
- 52 people
- Sponsor
- Istituto Auxologico Italiano
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
Cystic Fibrosis, Pulmonary Disease, Chronic Obstructive
Comparison of Two Treatment Regimens to Reduce PA Infection in Children With Cystic Fibrosis
Cystic fibrosis (CF) is a chronic disease that significantly affects an individual's lung function. Antibiotic medications have been proven effective at reducing Pseudomonas aeruginosa (PA) infection, which is one of the main…
- Trial name
- EPIC (NCT00097773)
- Testing
- Tobramycin solution for inhalation (TOBI), Oral ciprofloxacin
- Where
- 54 sites in United States
- Volunteers
- 304 people
- Sponsor
- Seattle Children's Hospital
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