Clinical trials: Mutation Abnormality
Cancer, Breast Cancer
Liquid Biopsy Evaluation and Repository Development at Princess Margaret
The objective of this protocol is to develop an institution-wide liquid biopsy protocol that will establish a common process for collecting blood and corresponding archived tumor specimens for future research studies at the…
- Conditions
- Cancer, Breast Cancer, Lung Cancer, Colon Cancer
- Trial name
- LIBERATE (NCT03702309)
- Where
- Canada
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
Osteoporosis Pseudoglioma
Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome
This was a pilot study of 10 patients with Osteoporosis-pseudoglioma syndrome (OPPG) from the Old Order Mennonite community and 16 controls, who did not have OPPG.
- Trial name
- NCT01108068
- Testing
- Lithium
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
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
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
Alzheimers Disease, Dementia
A Study of a Potential Disease Modifying Treatment in Individuals at Risk for or With a Type of Early Onset AD Caused by a Genetic Mutation
The purpose of this research study is to test the study drug, referred to as remternetug, to determine its effectiveness for the study treatment of asymptomatic (at risk) Alzheimer disease in individuals with AD-causing…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU-002 (NCT06647498)
- Testing
- Remternetug
- Where
- 37 sites in United States, Argentina and 13 more
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Brain Tumor, Glioma
Metabolic Characterization of Space Occupying Lesions of the Brain
High field MR-technologies are expected to boost metabolic spectroscopic imaging (MRSI), but also CEST-MRI. This is due to the fact that increased SNR is available which can be used to increase the spatial resolution of all…
- Conditions
- Brain Tumor, Glioma, IDH Mutation
- Trial name
- FASTMRSI (NCT04233788)
- Testing
- MR-scans using a 3T Prisma and a 7T Terra scanner (Siemens, Erlangen Germany)
- Where
- Switzerland
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Parkinson's Disease
Functional Characterization of Parkin + Patients
Parkinson's disease is one of the most frequent neurodegenerative diseases, and for which the mechanisms remains unknown. Since the implication of susceptibility factors is highly suspect, we have recently shown that one…
- Trial name
- NCT00142311
- Where
- 14 sites in France
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hereditary Breast and Ovarian Cancer, Mutation
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
TUMOSPEC is a national family study designed to measure the relative and absolute risk of cancer for carriers of deleterious mutations to these "new" breast cancer (BC) susceptibility genes.
- Trial name
- TUMOSPEC (NCT03246841)
- Testing
- Genetic testing
- Where
- 2 sites in France
- Volunteers
- 7,274 people, healthy volunteers welcome
- Sponsor
- UNICANCER
Congenital Hypothyroidism
TG Gene Mutations and Congenital Hypothyroidism
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.
- Trial name
- NCT00493103
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Gene Insertions, Gene Deletion
Gene Biobank of Sports Injuries
Preserve biological samples and gene extracts of all sports medicine-related diseases. To study related gene mutation sites and regulation. To study related molecular mechanisms and signaling pathways.
- Trial name
- NCT04997629
- Where
- China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
Hereditary Elliptocytosis (HE), Hereditary Pyropoikilocytosis (HPP)
A Novel Mutation of the Spectrin Gene
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
- Trial name
- NCT00723567
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Utah
Study Genetic Basis of Infantile Onset Diabetes Mellitus
Gene Study for Infantile Onset Diabetes
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
- Trial name
- NCT03169413
- Testing
- Human Leucocytic antigen typing and mutation of adenosine triphosphate sensitive K channel gene in diabetic patients diagnosed under the age of one year.
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring.
- Conditions
- Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
- Trial name
- NCT04431024
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cancer, Precancerous Lesion
Molecular Markers in Cancers and Precancers (MOCA)
In oncology, the search for genetic alterations or infectious agents in tumour tissues has become a major medical challenge for diagnosis, prognosis, prediction of response to treatment and in particular to targeted therapies, or…
- Conditions
- Cancer, Precancerous Lesion, Healthy
- Trial name
- MOCA (NCT05257707)
- Testing
- Molecular biology
- Where
- France
- Volunteers
- healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Lung Adenocarcinoma
Osimertinib to Suppress the Progression of Remaining GGN for EGFR Mutation-positive Stage IB-IIIA Lung Adenocarcinoma
This is an open label, phase II study to assess the efficacy of osimertinib (80 mg, orally, once daily) to suppress the progression of remaining GGN(s) in other lobes following surgical resection for actionable EGFR…
- Trial name
- NCT05528458
- Testing
- Osimertinib 80Mg Tab
- Where
- South Korea
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Alzheimers Disease, Dementia
A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset AD Caused by a Genetic Mutation
The purpose is to evaluate the biomarker effect, safety, and tolerability of investigational study drugs in participants who are known to have an Alzheimer's disease (AD)-causing mutation.
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT05552157)
- Testing
- Remternetug (SC)
- Where
- 37 sites in United States, Argentina and 13 more
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Pancreatic Neoplasm, Peutz-Jeghers Syndrome
Cancer of the Pancreas Screening Study (CAPS 3)
The purpose of this study is to find the best and most sensitive screening modality (CT, MRI, EUS)for very small pre-cancerous pancreatic lesions and to treat these small lesions before they turn into cancer.
- Trial name
- CAPS 3 (NCT00438906)
- Testing
- Biopsy, Fine Needle Aspiration (FNA), Secretin (human synthetic) - ChiRhoClin
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
BRCA1 Mutation, BRCA2 Mutation
FaCT Trial (Facilitated Cascade Testing Trial)
The purpose of this study is to assess an intervention that incorporates engagement strategies with a medical team navigator, an educational video and accessible genetic testing services to maximize the genetic testing and…
- Trial name
- NCT04613440
- Testing
- Family Letter (Standard of Care), Educational Video, Mailed Saliva Kit for Genetic Testing
- Where
- 3 sites in United States
- Volunteers
- 524 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University