Clinical trials: Genetic Testing
Stuttering
Genetic Linkage Studies of Stuttering
Stuttering is an abnormality in speech that affects the rhythm of speech. People who stutter know what they wish to say, but at the time are unable to say it because of involuntary repetition, unnecessary lengthening…
- Trial name
- NCT00001604
- Where
- 3 sites in United States, Japan and 1 more
- Volunteers
- 3,044 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Irritable Bowel Syndrome (IBS), Sucrase Isomaltase Deficiency
Genetic Carbohydrate Maldigestion as a Model to Study Food Hypersensitivity
Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms. IBS strongly impacts quality of life, is a leading cause of work absenteeism, and consumes 0.5% of the healthcare annual budget.
- Trial name
- GenMalCarb (NCT05795049)
- Testing
- Stool and saliva sample collection, Questionnaire completion
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Nottingham University Hospitals NHS Trust
Cystic Fibrosis
Evaluation of New Device for Beta-adrenergic Sweat Test in the Context of Stratification of Patient With Cystic Fibrosis
This is a clinical study to evaluate a new medical system used to perform a sweat secretion-based test for the diagnosis of cystic fibrosis.
- Trial name
- BESTRACYFIC (NCT06836453)
- Testing
- Sweat stimulation and secretion quantification
- Where
- Belgium
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Cystic Fibrosis
Comparison Between RTX (Biphasic Cuirass Ventilator) and Physiotherapy in Cystic Fibrosis Patients
The purpose of this study is to compare the effectiveness of different mucous clearance techniques in cystic fibrosis patients
- Trial name
- RTX (NCT00908505)
- Testing
- physiotherapy
- Where
- Israel
- Volunteers
- 40 people
- Sponsor
- Hadassah Medical Organization
Obesity
Genetic Analysis of Childhood Obesity
Identify news genetic causes of different type of obesity (syndromic, familial or isolated obesity) by highlighting new mutations or new implied genes
- Trial name
- OSV (NCT02326480)
- Testing
- Identification of genetic causes of obesity
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Lille Catholic University
Rare Kidney Stone Diseases
Monogenic Kidney Stone - Genetic Testing
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease.
- Trial name
- NCT03305835
- Where
- United States
- Volunteers
- 6,000 people
- Sponsor
- Mayo Clinic
Primary Ciliary Dyskinesia, Kartagener Syndrome
Genetics of Primary Ciliary Dyskinesia
This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD).
- Trial name
- NCT02389049
- Where
- 8 sites in United States, Canada
- Volunteers
- 320 people
- Sponsor
- University of North Carolina, Chapel Hill
HIV Testing
Peer-led HIV Self-testing Among Men in Two Ugandan Fishing Communities
The goal of this behavioral interventional study is to assess the feasibility and acceptability of a peer-led HIV self-testing intervention among men in two fishing communities along the shores of Lake Victoria in Uganda.
- Trial name
- PEST4MEN (NCT05685498)
- Testing
- Peer-led HIV self-testing among male fisherfolk in Uganda
- Where
- 2 sites in Uganda
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Joseph KB Matovu
Infertility, Female, Infertility, Male
Cell Free Preimplantation Genetic Testing
This study aims to develop preimplantation genetic testing methods from embryo culture media (cell free). Genetic testing of culture media will be compared to conventional methods based on embryo biopsies.
- Trial name
- NCT04628507
- Testing
- Spent media collection
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Genomic Prediction Inc.
Neuropathic Pain, Sickle Cell Disease
Sickle Cell Pain: Intervention With Capsaicin Exposure
This study evaluates the safety and feasibility of using high dose topical capsaicin patches for the treatment of neuropathic pain in pediatric patients with sickle cell disease, as well as the feasibility of using a number of…
- Trial name
- SPICE (NCT03899246)
- Testing
- Eight Percent Topical Capsaicin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital of Michigan
Neural Tube Defects (NTDs), Facial Cleft Defect
Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population
In a collaborative effort with the Health Research Board, the national organization for medical research in the Republic of Ireland, individuals with neural tube defects (NTDs) or facial cleft defects and their parents will be…
- Conditions
- Neural Tube Defects (NTDs), Facial Cleft Defect, Hereditary Oral Clefts
- Trial name
- NCT00341068
- Where
- United States
- Volunteers
- 7,451 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Atopic Dermatitis
In-home Use Test of the New Modified Diprobase Formulation to Assess the Safety and Tolerability in Infants and Children Under Physician's Control
To investigate the safety and tolerability of the modified Diprobase formulation over 14 days in infants and children with a history of Atopic Dermatitis (AD).
- Trial name
- NCT03441568
- Testing
- Modified Diprobase formulation (BAY987534)
- Where
- United Kingdom
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Bayer
Genetic Disorder, Noonan Syndrome
Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658
This trial is conducted in Europe. The aim of this trial is to obtain the PTPN11 mutation status and investigate the impact of the PTPN11 mutation status on the effect of somatropin (Norditropin®) by use of data obtained in the…
- Trial name
- NCT01529944
- Testing
- somatropin
- Where
- Sweden
- Volunteers
- 22 people
- Sponsor
- Novo Nordisk A/S
Cystic Fibrosis
Clinical Utility of the 1-minute Sit to Stand Test as a Measure of Submaximal Exercise Tolerance in Patients With Cystic Fibrosis During Acute Pulmonary Exacerbation
The aim of this study is to assess whether the 1 minute Sit to Stand (STS) test can be used as a measure of submaximal endurance during a pulmonary exacerbation of Cystic Fibrosis (CF) for patients in the acute care setting.
- Trial name
- NCT04058548
- Testing
- Sit to stand test
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Boston Children's Hospital
Short Stature, Growth Hormone Deficiency
The IGFBP-3 Stimulation Test: A New Tool for the Diagnosis of Growth Hormone Deficiency in Children.
This project is designed to answer the question: Is there an acute IGFBP-3 response in normal children? Our specific hypothesis states that under the influence of growth hormone secretagogues, intact IGFBP-3 molecule will undergo…
- Trial name
- NCT00235599
- Testing
- IGFBP-3 Stimulation Test
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Massachusetts, Worcester
Autism Spectrum Disorder
Early Detection of Autism Spectrum Disorder in Children
Rationale: Autism Spectrum Disorder (ASD) is defined by deficits in social interaction and communication identified before the age of 3 years.
- Trial name
- NCT01646866
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- St. Louis University
Schizophrenia
A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations
Schizophrenia (SCH) is a devastating brain disorder with grave personal, family and social cost. SCH is a complex and heterogeneous (both genetic and clinical) disorder with oligogenetic endowed vulnerability risk of disease…
- Trial name
- SONPOS (NCT01075373)
- Where
- Taiwan
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Cystic Fibrosis
Modeling of Chest Physiotherapy Using Impedance Measurements (PHYSIOMOD)
"The usefulness of respiratory physiotherapy and its execution modalities remains highly debated even though reviews of the literature show that respiratory physiotherapy is able to improve the drainage of bronchial secretions…
- Trial name
- PHYSIOMOD (NCT04094441)
- Testing
- chest physiotherapy
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Screening, Aortic Aneurysm and Dissection
A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases
The primary hypothesis is that a tailored programme of genetic and imaging screening of first- and second-degree relatives of patients affected by non-syndromic forms of thoracic aortic diseases will identify individuals at risk…
- Conditions
- Screening, Aortic Aneurysm and Dissection, Genetic Disease
- Trial name
- ReST (NCT03861741)
- Testing
- WES, MRI, TTE
- Where
- United Kingdom
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Leicester
Colon Cancer, Colorectal Cancer
Does Genetic Susceptibility for Bleeding Affect Quantitative Faecal Immunochemical Test (qFIT) Results?
Quantitative faecal immunochemical testing (qFIT) is used to test for blood within faeces that cannot always be visible. The presence of blood in the stool has been shown to be a finding where there may be a problem within the…
- Trial name
- NCT05329870
- Testing
- SNP array
- Where
- United Kingdom
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Edinburgh