Clinical trials: Gene Mutation
Colonoscopy
Virtual Reality Alternative to Pharmacological Sedation During Colonoscopy
Colonoscopy patients will be fitted with a virtual reality head-mounted display, and virtual experiences will be initiated prior to colonoscope insertion. Colonoscopy will be initiated without standard sedatives and narcotics.
- Trial name
- NCT04349150
- Testing
- Virtual reality
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Anxiety, Surgery
Could Music be an Alternative to Sedation in Patients Treated Total Knee Arthroplasty With Regional Anesthesia?
Background: Anxiety is a common phenomenon in hospitalized patients. In order to reduce it during the surgical procedure, sedatives and anxiolytics are used, which can cause undesirable side effects for patients.
- Conditions
- Anxiety, Surgery, Drug Toxicity, Anesthesia
- Trial name
- NCT03882541
- Testing
- Music therapy, Sedation with midazolam
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Consorci Sanitari de l'Anoia
Nasal Polyp, Smoking
The Factors Associated With the Formation of Nasal polyp-a Case Control and Descriptive Study
Nasal polyp is a significant health problem with a prevalence of 4%. It is increased in patients with asthma (7-15%), Cystic fibrosis (39-56%) or aspirin intolerance (36-96%).The quality of life (QOL) is worse than in patients…
- Conditions
- Nasal Polyp, Smoking, Rhinosinusitis, Allergic Rhinitis
- Trial name
- ACAAGSONP (NCT01278719)
- Where
- India
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Karnataka Institute of Medical Sciences
Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
- Conditions
- Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L, Healthy Volunteers
- Trial name
- Rementips (NCT02980302)
- Testing
- Cutaneous biopsy
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Autoimmune Diseases
A Study to Investigate the Pharmacokinetics (PK) of Modified Release (MR) Prototype Coated Tablet Formulations of GSK2982772
Previous clinical studies of immediate release (IR) formulations of GSK2982772 resulted in a high peak to trough ratio of GSK2982772.
- Trial name
- NCT03649412
- Testing
- GSK2982772 Modified Release, GSK2982772 Immediate Release
- Where
- United Kingdom
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Prion Diseases
PROSPECT Registry for Individuals at Risk for Genetic Prion Disease
PROSPECT is a prospective observational registry and longitudinal natural history study of adults at risk for genetic prion disease.
- Trial name
- PROSPECT (NCT07732608)
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Brian Appleby
Surgical Fitness, Imaging
Can Imaging be an Alternative to Exercise Testing as a Predictor of Surgical Fitness?
This study aims to explore an alternative method for assessing a participant's readiness for surgery, specifically for those undergoing surgery for gastric, oesophageal, or pancreatic cancer.
- Trial name
- RESPIRE (NCT06544187)
- Testing
- MRS scan, CPET
- Where
- United Kingdom
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University Hospitals of North Midlands NHS Trust
Schizophrenia, Psychotic Disorders
Acute Glycine Pharmacodynamic Study
The purpose of this study is to use proton magnetic resonance spectroscopy (MRS) at 4 Tesla to measure brain glycine levels noninvasively at baseline and for 2 hours after a single oral dose of a concentrated glycine-containing…
- Trial name
- NCT01610011
- Testing
- Glycine administration
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Mclean Hospital
Medical Abortion
The Acceptability and Feasibility of an Alternative to Routine Follow-up Visit After Medical Abortion in Vietnam
This trial will compare the efficacy and acceptability of post-medical abortion follow-up by assigning women to either 1) alternative follow-up via routine semi-quantitative pregnancy test and a self-administered follow-up…
- Trial name
- NCT01150422
- Testing
- Alternative follow-up
- Where
- 4 sites in Vietnam
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Gynuity Health Projects
Autosomal Dominant Alzheimers Disease, Early Onset Alzheimer Disease
A Study of Donanemab, RG6289, or the Combination of Donanemab and RG6289 in Presenilin 1 (PSEN1) E280A Mutation Carriers for the Treatment of Autosomal-Dominant Alzheimer's Disease
The study will be conducted in 2 blinded parts (Part 1 and Part 2). In Part 1, study participants who are mutation carriers will receive active donanemab and non-mutation carriers will receive placebo-donanemab for up to 18…
- Conditions
- Autosomal Dominant Alzheimers Disease, Early Onset Alzheimer Disease, Alzheimers Disease
- Trial name
- NCT06996730
- Testing
- Donanemab, RG6289
- Where
- Colombia
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Banner Health
Infections, Papillomavirus
Partially Blind Study to Evaluate Immunogenicity & Safety of GSK Bio's HPV Vaccine 580299 in Healthy Women Aged 9-25 Yrs
Human Papillomavirus (HPV) infection has been established as a necessary cause of cervical cancer. GlaxoSmithKline (GSK) Biologicals has developed an HPV vaccine (580299) which targets the 2 most common oncogenic HPV types…
- Trial name
- NCT00541970
- Testing
- Cervarix
- Where
- 25 sites in Canada, Germany
- Volunteers
- 961 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
AUD
Title: Effect of Opioid Receptor Modulation on Alcohol Self-Administration and Neural Response to Alcohol Cues in Heavy Drinkers: Role of OPRM1 Gene Variation
Background: Drugs like nalmefene interfere with opioid receptors. This might reduce drinking. The gene OPRM1 determines opioid receptor functions. Researchers want to see if nalmefene affects people s responses to alcohol cues.
- Trial name
- NCT02639273
- Testing
- Nalmefene
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- National Institute on Alcohol Abuse and Alcoholism (NIAAA)
BRCA1 Mutation, BRCA2 Mutation
BRCA1/2 Flu Vaccine
To evaluate immune function in BRCA1/2 mutation carriers without cancer, specifically to determine whether immune function in healthy individuals with germline loss of function BRCA1/2 mutations, impacts overall immune health and…
- Trial name
- NCT04499534
- Testing
- Seasonal influenza vaccine
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Obesity, Type 2 Diabetes Mellitus
Effect of Pre-meal Serving of Dairy and Dairy Alternatives on Post-meal Satiety and Glycaemia in Healthy Young Adults
Regular consumption of dairy products is found to negatively associated with metabolic diseases and improve body composition in long term studies and has positive effect on acute glycemia control and satiety.
- Trial name
- NCT04600128
- Testing
- Dairy-based greek yogurt, Dairy-based cheddar cheese, Plant-based yogurt
- Where
- Canada
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Primary Dysmenorrhea
The Effect Of Reiki And Massage With Sage Oil On Primary Dysmenorrhea
This study was a randomized controlled trial. It included young girls with primary dysmenorrhea in a district located in the south of Turkey and was conducted between March 01, 2021 and June 30, 2021.
- Trial name
- NCT05129852
- Testing
- Sage oil group, Reiki group
- Where
- Turkey (Türkiye)
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Mehmet Akif Ersoy University
Dietary Modification, BRCA1 Mutation
Dietary Intervention and BRCA Penetrance
Insulin-like growth factor I (IGF-I) and other markers of insulin resistance (IRm) might modulate the penetrance of BRCA genes mutation.
- Conditions
- Dietary Modification, BRCA1 Mutation, BRCA2 Mutation, Breast Cancer
- Trial name
- NCT03066856
- Testing
- Dietary intervention
- Where
- Italy
- Volunteers
- 502 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
Frontotemporal Dementia
GENetic Fronto Temporal Dementia Initiative in Lille
GENFI Lille is a French cohort that belongs to the international initiative GENFI2, a five year longitudinal biomarker cohort study of genetic FTD and its associated disorders (including MND/ALS) investigating members of families…
- Trial name
- GENFI-LILLE (NCT04639622)
- Testing
- Investigation procedures
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Carcinoma, Non-Small-Cell Lung
Detection of Either the EML4-ALK Gene Rearrangements or the T790M EGFR Mutation in the Plasma of Advanced NSCLC Patients
Demonstrate feasibility of detection of EML4-ALK fusion transcripts and T790M EGFR mutation from exosomes in the circulation of Non-Small Cell Lung Cancer (NSCLS) patients.
- Trial name
- NCT03236675
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Exosome Diagnostics, Inc.
Influenza
Evaluation of Alternative Oseltamivir (Tamiflu) Dosing Strategies.
Objective 1: Determine the safety and toxicity profile of Tamiflu administered in combination with probenecid in healthy adults.Objective 2: Determine the pharmacokinetic profile of Tamiflu and probenecid in healthy adults.
- Trial name
- NCT00304434
- Testing
- Oseltamivir, Probenecid
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- US Department of Veterans Affairs