Clinical trials: Genetic Mutations
Microvessels, Carbohydrate Metabolism
Cardiometabolic and Mental Health in the RGV
Microvascular insulin resistance has been shown to precede myocyte insulin resistance and impairments in metabolic function. However, there is no convincing data showing the relationship between impaired microvascular flow and…
- Conditions
- Microvessels, Carbohydrate Metabolism, Diabetes Mellitus, Type 2
- Trial name
- NCT03436875
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Texas Rio Grande Valley
Congenital Central Hypoventilation Syndrome
Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control characterized by ventilatory impairment that results in arterial hypoxemia.
- Trial name
- CCHS (NCT01225679)
- Testing
- positive airway pressure, Non-invasive mechanic ventilation
- Where
- Brazil
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Associação Fundo de Incentivo à Pesquisa
Parkinson Disease, Gaucher Disease
Biomarker Analysis for GBA Associated Parkinson's Disease
The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in…
- Trial name
- NCT03811496
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Gastric, Colorectal Adenocarcinoma
Chemotherapy Sequential Tislelizumab After Radical Resection in Patients With dMMR/MSI-H or POLE/POLD1 Mutations
Objective of this study to evaluate 1-year disease-free survival in patients with dMMR/MSI-H or POLE/POLD1 gene mutations with gastric or esophagus-gastric junctional adenocarcinoma or colorectal adenocarcinoma after…
- Trial name
- NCT06118658
- Testing
- tislelizumab
- Where
- China
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- China Medical University, China
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Photoaging
Sample Collection Study to Assess Prevalence of Gene Mutations: Establishing Population Norms
This is a multi-center, sample collection study to quantitatively assess the presence of gene mutations in subject's skin collected non-invasively.
- Trial name
- NCT05079737
- Testing
- Mutation Burden
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- DermTech
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Epigenomics, Transcriptomics
Epigenomic and Transcriptomic Analysis in BRCA Mutated Carriers With and Without Serous Tubal Intraepithelial Carcinoma
High-grade serous ovarian cancer (HGSOC) is the most lethal gynecologic malignancy and is typically diagnosed at an advanced stage, limiting opportunities for early detection and intervention.
- Conditions
- Epigenomics, Transcriptomics, BRCA Mutations
- Trial name
- PRE-PROBE (NCT07736300)
- Testing
- Peripheral blood sampling performed for germline DNA extraction and assessment of BRCA1/2 mutation status.
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
Cancer Genetics
Adaptation to Living With a BRCA1/2 Mutation
Background: Women who have a BRCA1/2 gene mutation have a very high risk of developing breast or ovarian cancer. They are also at increased risk of other developing other cancers.
- Trial name
- NCT01866865
- Where
- United States
- Volunteers
- 142 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Melanoma
Genetic Risk Factors and Acquired Oncogenic Mutations of Melanoma
Though it is generally accepted that exposure to sunlight is a major causative factor for skin cancer, the risk for developing melanoma is not directly linked to sun exposure such as in non-melanoma skin cancer.
- Trial name
- M3 (NCT00849407)
- Where
- Austria
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
HIV-1, AIDS
HLA-B35 Alleles and AIDS
This study will identify variations in the genome of the human immunodeficiency virus (HIV) early after infection and following the development of AIDS.
- Trial name
- NCT00340223
- Where
- 7 sites in United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Hearing Impairment
Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness.
- Trial name
- SURDOM (NCT01150305)
- Testing
- blood sample
- Where
- France
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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)
Breast Cancer, Ovarian Cancer
Clinical Significance of Germline BRCA Mutations
The goal of this study is to help us learn more about the roles of genes in cancers that run in families. Sometimes, we are born with genes that are changed or altered. Gene changes are called mutations.
- Trial name
- NCT00579488
- Where
- 7 sites in United States
- Volunteers
- 13,320 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Inherited BMF Syndrome
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can…
- Trial name
- NCT05436587
- Testing
- The whole-exome sequencing
- Where
- Egypt
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Sohag University
A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome
Inherited Myokymia: A Clinical and Genetic Study of a Family
Neuromyotonia (NMT), so called Isaac's syndrome, is a rare disorder in which hyperexcitability of peripheral motor nerves leads to intermittent muscle contractions.
- Trial name
- NCT01250704
- Where
- 3 sites in Taiwan
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- China Medical University Hospital
MDC1A
LAMA2 Genetic Correction
Merosin-deficient congenital muscle dystrophy type 1a (MDC1a), or LAMA2 muscular dystrophy (LAMA2-MD) is a severe autosomal recessive form of muscular dystrophy that is caused by homozygous or compound heterozygous mutations in…
- Trial name
- NCT06582537
- Testing
- Participants sample collection
- Where
- Netherlands
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Maastricht University
PTEN, ASD
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular…
- Conditions
- PTEN, ASD, Autism, Macrocephaly
- Trial name
- NCT02461446
- Where
- 5 sites in United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
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