Clinical trials: Gene Mutations
Genetic Diseases, Nonsense Mutations
Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers
This is the first study in humans of ELX-02, an advanced synthetic aminoglycoside optimized as a translational read-through drug (TRID) for the treatment of genetic conditions caused by nonsense. mutations.
- Trial name
- NCT02807961
- Testing
- ELX-02
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
BRCA1 Mutation, POLD1 Gene Mutation
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team.
- Conditions
- BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation
- Trial name
- NCT05420064
- Testing
- Intervention Arm At-risk Relative/ARR Contacts, MyGene Portal, Standard of Care
- Where
- 8 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Gene Mutation-Related Cancer, Genetic Predisposition
Genetic Information Assistant in Telegenetics
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers.
- Trial name
- NCT06089421
- Testing
- Genetic Information Assistant, Telegenetics with UVA genetic counselor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Retinoblastoma Bilateral, Retinoblastoma Unilateral
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene.
- Conditions
- Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent
- Trial name
- NCT06725173
- Testing
- Targeted Long-read sequencing
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Washington
Increased Oocyte Death, in Vitro Maturation
GREM1, HAS2 and PTGS2 Gene Expression Following the in Vitro Maturation (IVM)
Poor ovarian reserve (POR) is an adverse prognostic factor for In-Vitro Fertilization (IVF) success. Numerous established data showed low live birth rates per IVF cycle; 6 to 10%, including the usage of In-Vitro Maturation (IVM).
- Conditions
- Increased Oocyte Death, in Vitro Maturation, GREM1 Gene Mutation, Cumulus Cell
- Trial name
- NCT06315777
- Testing
- cumulus cell oocytes complex (COC) among women with poor ovarian reserve
- Where
- Malaysia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- National University of Malaysia
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
GATA2 Gene Mutation
Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
This trial is a translational, open-label, multi-site, retrospective and prospective cohort study of 250 patients aiming to characterize predictive parameters of clonal evolution in a population of subjects carrying the germline…
- Trial name
- GATA-2 (NCT05983991)
- Testing
- Biological samples (blood and bone marrow samples).
- Where
- 24 sites in France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
Systemic Lupus Erythematosus
" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin.
- Trial name
- NCT07397728
- Testing
- TREX1 gene polymorphisms
- Where
- Egypt
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- South Valley University
Primary Lymphedema
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
- Trial name
- CELSR1 (NCT04919655)
- Where
- France
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Atopic Dermatitis
The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
The incidence of atopic dermatitis has increased dramatically in this years. Atopic dermatitis occurs due to complex interactions between genetic and environmental factors.
- Trial name
- FLG-FADSgen (NCT02401178)
- Where
- Indonesia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Cerebellar Ataxias, Spastic Paraplegias
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity.
- Trial name
- Spatax (NCT00140829)
- Where
- 27 sites in Algeria, Belgium and 13 more
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Fabry Disease
Fabry Screening Study
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
- Trial name
- NCT01019629
- Where
- United States
- Volunteers
- 2,724 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Adnexal Mass, Germline BRCA1 Gene Mutation
Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection
The objective of this project is to validate a next-generation assay that utilizes both the protein biomarkers of our already established ovarian cancer risk assessment combined with a molecular profile in both germline and early…
- Conditions
- Adnexal Mass, Germline BRCA1 Gene Mutation, Germline BRCA2 Gene Mutation, Hereditary Breast and Ovarian Cancer
- Trial name
- OVA360 (NCT04668521)
- Testing
- OVA360
- Where
- United States
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- Aspira Women's Health
Frontotemporal Lobar Degeneration (FTLD), Frontotemporal Dementia (FTD)
Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations
The study will investigate the ability of a new PET tracer, 18F-AV-1451, to detect depositions of a protein, called tau, in the brains of people with a mutation in the tau gene that causes deposition of the protein, and in people…
- Conditions
- Frontotemporal Lobar Degeneration (FTLD), Frontotemporal Dementia (FTD), Tauopathies
- Trial name
- NCT02676843
- Testing
- 18F-AV-1451
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Columbia University
BRCA1/2 Mutation
INO 5401 Vaccination in BRCA1/2 Mutation Carriers
The research study is being conducted to test an experimental vaccine to potentially prevent cancer for people with BRCA1 or BRCA2 mutations.
- Trial name
- NCT04367675
- Testing
- INO-5401, INO-9012, Cellectra 2000
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Parkinson's Disease
Mutations Associated With Parkinson s Disease
Background: Early-onset Parkinson's disease (EOPD) is more likely to be caused by gene mutations than Parkinson's disease that develops in older people. Studying these mutations may help find therapies for EOPD.
- Trial name
- NCT01547832
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Healthy, GEN1 Gene Mutation
SREBF1 Polymorphism and Egg Yolk on Cardiovascular Disease Risk in Healthy Young Adults: a Randomised, Two-period, Single Blinded, Crossover Trial
Our previous analysis showed that sterol regulatory element binding protein gene (SREBF1) rs2236513/rs2297508/rs4925119 polymorphism modulated the relation between dietary cholesterol and serum low density lipoprotein cholesterol…
- Trial name
- NCT04975048
- Testing
- Egg yolks, Macronutrients equivalent control
- Where
- China
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Shandong University
Ergocalciferol
Pilot Study: The Effect of Ergocalciferol on Plasma Mucin-1 Levels
To determine if a one-time oral administration of ergocalciferol results in a decline in plasma mucin-1 levels in healthy individuals and individuals with ADTKD-MUC1.
- Trial name
- NCT03747523
- Testing
- Ergocalciferol
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Colorectal Cancer
Identification of New Colorectal Cancer Genes
The purpose of this study is to define new genes for family risks of developing colon cancer.
- Trial name
- NCT00582335
- Where
- United States
- Volunteers
- 337 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Parkinson Disease, GBA Gene Mutation
Evaluation of the Frequency and Severity of Sleep Abnormalities in Patients With Parkinson's Disease
Sleep disturbances are one of the most common non-motor symptoms in PD, with an estimated prevalence as high as 40-90%. Sleep disturbances (particularly sleep duration, sleep fragmentation, Rapid Eye Movement (REM) sleep behavior…
- Conditions
- Parkinson Disease, GBA Gene Mutation, Leucine-rich Repeat Kinase 2 (LRRK2) Gene Mutation
- Trial name
- NCT04387812
- Testing
- Xtrodes home PSG system
- Where
- Israel
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center