Clinical trials: Molecular Diagnosis
TSC, Tuberous Sclerosis Complex
Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex
The primary objective of clinical part of EPISTOP project is to identify the clinical and molecular biomarkers of epileptogenesis in a prospective clinical study of patients with TSC.
- Conditions
- TSC, Tuberous Sclerosis Complex, Epilepsy
- Trial name
- EPISTOP (NCT02098759)
- Testing
- epilepsy early diagnosis protocol
- Where
- 9 sites in Austria, Belgium and 6 more
- Volunteers
- 100 people
- Sponsor
- Sergiusz Jozwiak
Colorectal Neoplasms
Clinical and Molecular Characterization of Familial Microsatellite Stable Colorectal Cancer
Two major genetic pathways leading to colorectal carcinoma can well be distinguished; the 'suppressor pathway', which is characterized by inactivation of tumor-suppressor genes and the 'mutator pathway', which is characterized by…
- Trial name
- NCT00220246
- Where
- Netherlands
- Volunteers
- 130 people
- Sponsor
- Radboud University Medical Center
Smith-Magenis Syndrome (SMS)
Natural History Study of Smith-Magenis Syndrome
This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece).
- Trial name
- NCT00013559
- Where
- United States
- Volunteers
- 593 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Anaplastic Astrocytoma, Anaplastic Ependymoma
SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors
Approximately 90% of children with malignant brain tumors that have recurred or relapsed after receiving conventional therapy will die of disease.
- Conditions
- Anaplastic Astrocytoma, Anaplastic Ependymoma, Anaplastic Ganglioglioma, Anaplastic Meningioma
- Trial name
- NCT03434262
- Testing
- Gemcitabine, ribociclib, sonidegib
- Where
- United States
- Volunteers
- 68 people
- Sponsor
- St. Jude Children's Research Hospital
Growth Hormone Deficiency
Molecular Basis of the Growth Axis in Short Stature
To examine the clinical genetic and biochemical characteristics of children with growth hormone deficiency.
- Trial name
- NCT00453245
- Where
- Israel
- Sponsor
- HaEmek Medical Center, Israel
Sepsis, Septicemia
Observational Study of Sepsis and Pneumonia to Develop Diagnostic Tests
We propose to develop novel diagnostic tests for severe sepsis and community acquired pneumonia (CAP). This program, entitled Community Acquired Pneumonia \& Sepsis Outcome Diagnostics (CAPSOD), is a multidisciplinary…
- Conditions
- Sepsis, Septicemia, Sepsis Syndrome, Shock, Septic
- Trial name
- NCT00258869
- Where
- 3 sites in United States
- Volunteers
- 1,200 people
- Sponsor
- National Center for Genome Resources
Severe Asthma, Asthma in Children
Severe Eosinophilic Asthma Phenotypes During Childhood Have Various Origins
Study of the clinical evolution at 10 years of children from the SAMP cohort (severe asthma, eosinophilic or not, allergic or not) in order to understand the different possible evolutions of these phenotypes at different ages.
- Trial name
- SAMP 2 (NCT05762627)
- Where
- France
- Volunteers
- 360 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Leukemia
Studying RNA in Samples From Younger Patients With T-Cell Acute Lymphoblastic Leukemia
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors identify and learn more about biomarkers related to cancer PURPOSE: This laboratory study is looking into RNA in samples…
- Trial name
- NCT01626183
- Testing
- RNA analysis, proteomic profiling, laboratory biomarker analysis
- Volunteers
- 20 people
- Sponsor
- Children's Oncology Group
Covid19
Comparison of Detection of SARS-CoV2 (COVID-19) Between Nasopharyngeal Swab Specimens and Those Obtained by Salivary Sputum
Multicenter observational study of diagnostic test validation (Research Involving the Human Person, type 3) In addition to the diagnosis by the reference method (nasopharyngeal swab), the patient will be asked to provide a saliva…
- Trial name
- COVISAL (NCT05024461)
- Testing
- Salivary test for COVID19
- Where
- French Guiana
- Volunteers
- 1,159 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier de Cayenne
Trophoblastic Neoplasms, Choriocarcinoma
Conformation of Beta Human Chorionic Gonadotropin During Chemotherapy for Choriocarcinoma
Gestational trophoblastic disease comprises a spectrum of diseases with different propensity for local invasion and metastasis, that is, partial and complete hydatidiform mole, choriocarcinoma, and placental site trophoblastic…
- Trial name
- NCT00294177
- Testing
- atomic force microscopy, dual polarisation interferometry
- Where
- Taiwan
- Volunteers
- 30 people
- Sponsor
- National Taiwan University Hospital
COVID-19
Bioaerosol Sampling Device (BSD) Clinical Study
The goal of this clinical trial is to learn about the bioaerosol sampling device (BSD) and how it can sample patient bioaerosols (breath) and patient's nares for the detection of COVID-19 viral particles in patients seeking to be…
- Trial name
- NCT06047067
- Where
- 6 sites in United States
- Volunteers
- 330 people, healthy volunteers welcome
- Sponsor
- Cantor BioConnect, Inc.
Sepsis, Sepsis Bacterial
Molecular Culture for the Diagnosis of Pediatric Sepsis
Babies and children have an increased risk of getting an infection with a bacteria in the bloodstream (sepsis). It is often difficult for the doctor to determine whether a child has an infection of the bloodstream, because the…
- Conditions
- Sepsis, Sepsis Bacterial, Sepsis, Neonatal, Infection, Bacterial
- Trial name
- CHAMPIONS (NCT06018792)
- Testing
- Molecular Culture
- Where
- 2 sites in Netherlands
- Volunteers
- 1,835 people
- Sponsor
- Jip Groen
Infections Nervous System
Molecular Panel Evaluation for Diagnosis of Infections of the Central Nervosous System
Infections involving the central nervous system (CNS), such as meningitis/encephalitis (ME), are serious clinical conditions associated with high morbidity and mortality rates, as well as significant long-term consequences.
- Trial name
- NCT06720519
- Testing
- QIAstat-Dx®Meningitis/Encephalite Panel
- Where
- Italy
- Volunteers
- 170 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Tuberculosis, Pulmonary
Integrated Discovery and Development of Innovative TB Diagnostics
The long term goal of this project is to provide information critical to the development and use of a low-cost, point-of-care, rapid, simple, and highly accurate diagnostic tool that can help clinicians make a microbiological…
- Trial name
- (CETR) (NCT06624501)
- Testing
- Observational cohort study
- Volunteers
- 1,450 people, healthy volunteers welcome
- Sponsor
- Harvard University Faculty of Medicine
Covid19
Evolution of COVID-19 in Anticoagulated or Antiaggregated Patients (CORONA Study)
CORONA is a retrospective, observational, one center study to investigate the clinical evolution (in terms of survival and thromboembolic complications) of patients on chronic treatment with anticoagulants or antiplatelet agents…
- Trial name
- CORONA (NCT04518735)
- Testing
- Antithrombotic Therapy (anticoagulant and/or antiplatelet) before admission for Covid19
- Where
- Spain
- Volunteers
- 1,707 people
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Cystic Fibrosis
Small Circulating RNA as Molecular Markers of Lung Disease in Cystic Fibrosis
The aim of our study is to assess miRNAs expression profiles in the circuling blood of patients with cystic fibrosis and highlight "signatures" that could reflect the pulmonary status of patients
- Trial name
- MIRDIAMUCO (NCT02992080)
- Testing
- miRNAs isolation from blood samples of patients and control
- Where
- 2 sites in France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.
This clinical trial is looking at two drugs called dabrafenib and trametinib. Dabrafenib and trametinib are approved as standard of care treatment for adult patients with melanoma (a type of skin cancer) or lung cancer and in…
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT07440290)
- Testing
- Dabrafenib, Trametinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Colorectal Cancer, Lynch Syndrome
Molecular Screening for Lynch Syndrome in Southern Denmark
A clinically applicably strategy for molecular screening for Lynch Syndrome has been implemented in the Region of Southern Denmark.
- Conditions
- Colorectal Cancer, Lynch Syndrome, HNPCC
- Trial name
- NCT01216930
- Testing
- Observation
- Where
- 7 sites in Denmark
- Volunteers
- 2,000 people
- Sponsor
- Vejle Hospital
Histiocytosis
Determination of Molecular Status, the Efficacy and Safety of Fluorodeoxyglucose in PET-CT Imaging
Prospective, low intervention, open, single-center, non-commercial clinical trial to improve diagnostics in patients with histiocytosis by assessing the molecular profile of the tumor tissues, monitoring its presence in…
- Trial name
- HISTIOGEN (NCT04943211)
- Testing
- fluorodeoxyglucose (18F-FDG)
- Where
- Poland
- Volunteers
- 150 people
- Sponsor
- Anna Raciborska
Intellectual Disability, Congenital Abnormalities
Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Apparently balanced chromosomal rearrangement (ABCR) associated with an abnormal phenotype is a rare but problematic event. It occurs in 6% of de novo reciprocal translocations and 9% of de novo inversions.
- Trial name
- ANI (NCT02451761)
- Testing
- Blood sampling
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Hospices Civils de Lyon