Clinical trials: DNA Sequencing
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Cancer
Genome Sequencing of Human Cancer Tissues
The goal of this study is to develop a new, local system that will use special tests based on patients' genetic makeup to better tailor cancer care at the University of New Mexico Cancer Center.
- Trial name
- NCT02105545
- Testing
- Cancer Treatment Options
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- New Mexico Cancer Research Alliance
Brain Concussion, Brain Injuries
Screening Brain MRI in High School Football: Does the Guardian Cap Reduce the Risk of Traumatic Brain Injury
Screening Brain magnetic resonance imaging (MRI) with Fluid-attenuated Inversion Recovery (FLAIR) and Susceptibility Weighted Imaging (SWI) sequences will be performed pre and post season on high school football players.
- Conditions
- Brain Concussion, Brain Injuries, Diffuse Axonal Injury, Athletic Injuries
- Trial name
- NCT02757053
- Testing
- Guardian Cap
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Mosaic Life Care
Full Gene Sequences of c-KIT、PDGFRA and DOG1 Are Analyzed With the Screening-sequencing Approach, Investigate the Characteristics and Variations Associated With the Different Gene Mutations of c-KIT、PDGFRA and DOG1 in GIST Patients
Study on the Evolution of Genes Mutation Related With Gastrointestinal Stromal Tumors
Mutations of tumor-related genes are dynamic. Gastrointestinal stromal tumor cells often are obviously more invasive in case of recurrence.
- Trial name
- NCT01505205
- Volunteers
- 60 people
- Sponsor
- Guangxi Medical University
Computational Modeling of Individual Metabolic Pathways
Continuous N-of-1 Computational Feasibility Study of a Whole Genome Sequence
This is an observational, computational N-of-1 study that uses previously collected Whole Genome Sequencing (WGS) data from a single adult participant to evaluate the feasibility of a deterministic bioenergetic simulation model.
- Trial name
- B2026N1 (NCT07462234)
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Bioactify LLC
Breast Carcinoma
Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Hypertension Receiving Bevacizumab for Breast Cancer
This research trial studies whole exome sequencing in finding causative variants in germline deoxyribonucleic acid (DNA) samples from patients with hypertension receiving bevacizumab for breast cancer.
- Trial name
- NCT02610413
- Testing
- Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 354 people
- Sponsor
- National Cancer Institute (NCI)
Analgesia
Lorazepam for the Analgosedation of Pediatric Patients in Mechanical Ventilation.
The aim of this study is to better define the pharmacokinetic and pharmacodynamic profile of lorazepam for the analgosedation in pediatric intensive care unit.
- Trial name
- NCT04646135
- Testing
- Lorazepam 4 mg/ml
- Volunteers
- 9 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Respiratory Failure
HEAVEN Criteria: Prediction of Difficult Airway for In- Hospital Emergency Airway Management
The HEAVEN criteria were found valid to predict difficult airways during preclinical emergency intubations in a retrospective study.
- Trial name
- NCT04764799
- Testing
- Rapid sequence induction
- Where
- Switzerland
- Volunteers
- 2,800 people
- Sponsor
- Thomas Riva
Eczema Herpeticum
Etiology of Eczema Herpeticum (EH)
Atopic dermatitis, also called eczema, is a disease with dry, scaly, itchy skin. Those with atopic dermatitis may have complications from skin infections such as eczema herpeticum after herpes simplex virus (HSV) infection.
- Trial name
- NCT03038932
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Endometrial Cancer, Atypical Endometrial Hyperplasia
Liquid Biopsy-Based Early Screening for Endometrial Cancer in Regional Chinese Populations
Endometrial cancer is one of the most common gynecological malignancies, and its incidence is rising. Currently, there is a lack of highly effective and non-invasive screening methods.
- Trial name
- NCT07892755
- Where
- China
- Volunteers
- 512 people, healthy volunteers welcome
- Sponsor
- Guizhou Provincial People's Hospital
Neurodevelopmental Disorders, Intellectual Developmental Disorder
High Depth Exome Sequencing on DNA From a Salivary Sample by Mouth Smear.
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups.
- Trial name
- SEPASA (NCT07492199)
- Testing
- genetic
- Volunteers
- 50 people
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Angelman Syndrome
Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
RANDOMIZED CLINICAL TRIAL, PLACEBO COMPARED TO EVALUATE THE EFFICACY AND SAFETY OF MINOCYCLINE IN ANGELMAN SYNDROME (A-MANECE STUDY)
- Trial name
- A-MANECE (NCT02056665)
- Testing
- MINOCYCLINE
- Where
- Spain
- Volunteers
- 32 people
- Sponsor
- Puerta de Hierro University Hospital
Abdominal Organs - Lipodystrophy, Tumors
Comparing Magnetic Resonance Imaging/Spectroscopy Techniques
Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) are diagnostic tests that allow researchers to look at different chemical properties of tissue.
- Trial name
- NCT00001219
- Where
- United States
- Volunteers
- 49,946 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Pierre Robin Syndrome, Cleft Palate
Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations
In cleft surgery there is no current general agreement on the treatment strategy of patients with the Pierre Robin Sequence. The timing of surgery and the surgical approach depends on the treating physician or the hospital…
- Trial name
- NCT02658318
- Where
- Belgium
- Volunteers
- 92 people
- Sponsor
- AZ Sint-Jan AV
Anorexia Nervosa
Whole Gut Microbiome Sequencing in Patients With Anorexia Nervosa
Background. Anorexia nervosa (AN) still carries the highest fatality rate of any psychiatric disease, and less than half of the patients recover, completely refractory to any treatment.
- Trial name
- NCT02217384
- Where
- 3 sites in Denmark
- Volunteers
- 151 people, healthy volunteers welcome
- Sponsor
- Odense University Hospital
Rare Genetic Disease
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia.
- Trial name
- ARNseqFibroSan (NCT07075107)
- Testing
- Blood collection, skin biopsy
- Where
- France
- Volunteers
- 62 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Pediatric Surgery, Rapid Sequence Induction
High-flow Nasal Cannula Oxygenation During Rapid Sequence Induction in Children
This randomised study aims to compare the utilization of high-flow humidified nasal oxygenation (HFNO) with standard care, using apnoeic facemask oxygenation, during rapid sequence induction (RSI) of anesthesia in young children.
- Trial name
- OPTINECK (NCT05063084)
- Testing
- Optiflow - HFNO, Classic
- Where
- France
- Volunteers
- 44 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Pneumothorax
Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax
The estimated recurrence rate of primary spontaneous pneumothorax is 23-50% after the first episode, and the optimal treatment remains unknown.
- Trial name
- NCT00418392
- Testing
- Simple aspiration with minocycline pleurodesis, simple aspiration
- Where
- Taiwan
- Volunteers
- 300 people
- Sponsor
- National Taiwan University Hospital
Schizophrenia and Disorders With Psychotic Features
The Benefit of Minocycline on Negative Symptoms in Schizophrenia: Extent and Mechanisms
The purpose of this study is to investigate if minocycline limits the development of negative symptoms in early psychosis and to test via what mechanism of action this change occurs.
- Trial name
- BeneMin (NCT02928965)
- Testing
- Minocycline
- Volunteers
- 207 people
- Sponsor
- University of Manchester
Pierre Robin Syndrome
Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence
The study team has made the hypothesis that the intensity of the phonatory disorders (rhinolalia), and of the maxillo-mandibular growth anomalies (facial morphology), may have negative effects on the quality of life of…
- Trial name
- ADOROBIN (NCT03194178)
- Testing
- Pierre Robin sequence patients
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Imagine Institute