Clinical trials: Gene Mutation
Lipid Disorder
Genetic Origin of Lipid Disorders
Several lipid disorders are without known genetic origin. The scope of this project is to sequence genes superior involved in lipid and carbohydrate metabolism in patients with severe lipid disorders.
- Trial name
- NCT00277121
- Where
- Norway
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Oslo
Pregnancy
Delivery Vehicles for Prenatal Calcium Supplementation
The SickKids-led research team is currently developing a prenatal micronutrient powder that will contain calcium, iron, and folic acid with different absorption characteristics.
- Trial name
- NCT01676636
- Testing
- Traditional Tablet, Chewable tablets, Unflavoured Powder
- Where
- 2 sites in Bangladesh, Canada
- Volunteers
- 149 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Melanoma and Other Malignant Neoplasms of Skin
A Prospective Multicenter Sample Collection Study Using Non-invasive Methods to Investigate Mutation Burden in Non-lesional Facial Skin of Patients With a Hx of Skin Cancer
This is a prospective, multicenter, sample collection study using DermTech's non-invasive skin collection kits to evaluate the mutation burden of non-lesional facial skin from subjects with a documented history of numerous basal…
- Trial name
- NCT05602337
- Testing
- Observational Study Only
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- DermTech
Intellectual Disability, Speech and Language Disorder
Early Augmentative and Alternative Communication (AAC) Intervention Delivered Via Hybrid Telehealth
The goal of this mixed methods study aims to develop and pilot test an augmentative and alternative communication (AAC) intervention for toddlers with intellectual and developmental disabilities (IDD) and their families.
- Trial name
- NCT05743439
- Testing
- Early Augmentative and Alternative Communication (AAC) Intervention
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Colonic Neoplasms
Yoga and Bolus Lukewarm Saline as Rapid Colonoscopy Preparation
A quality colonoscopy examination remains as the gold standard for colorectal cancer screening, but effective large bowel cleansing prior to colonoscopy is still not achieved in all cases that undergo the procedure.
- Trial name
- NCT01547130
- Testing
- Normal (0.9%) saline, HalfLytely
- Where
- United States
- Volunteers
- 133 people, healthy volunteers welcome
- Sponsor
- Arya, Vijaypal, M.D., P.C.
Breast Carcinoma, Genetic Predisposition to Cancer
MEASUREMENT OF CIRCULATING MUTATION BURDEN
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
- Conditions
- Breast Carcinoma, Genetic Predisposition to Cancer, BRCA Mutation, cfMB
- Trial name
- cRISK (NCT06792721)
- Testing
- Mutation Burden cfMB analysis
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Centre Francois Baclesse
Spinal Muscular Atrophy
Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System…
- Trial name
- NCT04404764
- Testing
- Nusinersen Injectable Product
- Where
- 9 sites in Brazil
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Hospital Israelita Albert Einstein
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia: A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation
The purpose of this study is to assess the safety, tolerability, biomarker, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT06424236)
- Testing
- Gantenerumab
- Where
- 17 sites in United States, Australia and 4 more
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Complementary and Alternative Therapies, Aging
The Effect of Music on Sleep Quality and Comfort in Elderly: A Randomized Controlled Trial
The aim of this clinical study is to examine the effects of music on sleep quality and comfort levels in individuals aged 65 and older.
- Conditions
- Complementary and Alternative Therapies, Aging, Geriatric, Sleep Disorder in Elderly
- Trial name
- NCT06843941
- Testing
- Music intervention
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Ege University
Genetic Change, Athlete
Gene Expression in Intervened Athletes
Background: Exercise represents an important challenge for the homeostasis of the entire body that occurs on a cellular and systemic level in which micronutrients play an important role in regulating the processes that sustain…
- Trial name
- NCT03672786
- Testing
- Multicentrum
- Where
- Spain
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Universidad de Granada
Cricket Protein, Whey Protein
Insect vs Animal Protein for Building Muscle
This research is being carried out to investigate the potential of insects (crickets) as a sustainable protein source for supporting human muscle tissue by comparing cricket protein to a commonly used animal protein (whey).
- Trial name
- GAINZ (NCT07159919)
- Testing
- protein supplement
- Where
- United Kingdom
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- University of Surrey
Pain, Pulmonary Nodules
Effect of CYP2D6*10 Gene Mutation on Perioperative Precision Analgesia of Oxycodone in Elderly Patients
The purpose of this prospective study was to determine the effect of CYP2D6 gene polymorphism on perioperative analgesia of oxycodone in elderly patients, and to assign the CYP2D6 phenotype according to the genotype, and to use…
- Conditions
- Pain, Pulmonary Nodules, Oxycodone
- Trial name
- NCT07484867
- Testing
- oxycodone
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Henan Provincial People's Hospital
Caries, Dental
Alternative Treatment of Deep Carious Lesions Based on Biological Evidences
The purpose of this study is to evaluate the success rate of alternative treatment of deep carious lesions in asymptomatic primary teeth with no clinical nor radiographic signs of pulpal inflammation.
- Trial name
- NCT00973089
- Testing
- Incomplete caries removal in primary teeth
- Where
- Israel
- Volunteers
- healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Organic Pediatric Obstructive Sleep Apnea
Nasal Expiratory Positive Airway Pressure for the Treatment of Pediatric Obstructive Sleep Apnea Syndrome
This study will evaluate effectiveness and adherence of the nasal expiratory positive airway pressure (NEPAP) device as an an alternate therapy for children with Obstructive Sleep Apnea Syndrome (OSAS).
- Trial name
- NCT01768065
- Testing
- Nasal Expiratory Positive Airway Pressure Device
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Heart Failure
Stem Cells and Resynchronization Cardiac
Same patients with dilated myocardiopathies with large areas of fibrosis has not been as successful after Cardiac Resynchronization Therapy, for Heart Failure patients in functional class III or IV.
- Trial name
- RCT and SCT (NCT00800657)
- Testing
- Pacing and Stem Cells Implantations., Pacing and Stem Cells Implantation
- Where
- Brazil
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Instituto de Molestias Cardiovasculares
Type 2 Diabetes Mellitus
Investigating the Acute Effect of Alternative Forms of Physical Activity in a Multi-ethnic Population
The amount of people with diabetes has now reached over 4 million in the United Kingdom. Type 2 Diabetes accounts for the majority of all cases of diabetes and increases the risk of many other diseases, such as heart disease.
- Trial name
- NCT03549390
- Testing
- Physical activity
- Where
- United Kingdom
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- University of Leicester
Gaucher Disease, Type 1, Healthy
Prodromal Parkinsonian Features in GBA1 Mutation Carriers
Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that…
- Trial name
- NCT05253560
- Testing
- The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
- Where
- Israel
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Hallux Valgus
Diagnosis of Hallux Valgus by Using a Foot Pressure Platform as an Alternative to Radiological Images
Hallux Vagus is a common deformity which affects the first metatarsalphalangeal joint. The current diagnostic tool is using X-ray which is expensive and includes radiation exposure.
- Trial name
- NCT02676037
- Testing
- foot pressure plate form
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- University of Dundee
Smoking Cessation
An Alternative Dosing Schedule of Varenicline for Smoking Cessation
The purpose of this study is to explore the use of an prolonged alternative dosing schedule using varenicline for smoking cessation leading to greater quit rates and higher rates of continuous abstinence.
- Trial name
- NCT00835900
- Testing
- varenicline
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Roswell Park Cancer Institute