Clinical trials: Genetic Mutations
Cystic Fibrosis
A DDI Study of FDL169 and FDL176 in Healthy Subjects
A DDI study to assess the safety, tolerability and pharmacokinetics of both; doses of FDL176 with and without co-administration of FDL169 and doses of FDL169 with and without co-administration of FDL176.
- Trial name
- NCT03756922
- Testing
- FDL169, FDL176
- Where
- United Kingdom
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Flatley Discovery Lab LLC
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.
Predictive Cancer Model
Innovative Approach to Detect Recurrent Colorectal Lesions With Surveillance Via Mutation Analysis & Clinical Phenotype
It is known that the development of colorectal adenoma is dependent on the appearance of somatic mutations in protooncogenes and tumor suppressor genes.
- Trial name
- MTG (NCT05929365)
- Testing
- colonoscopy
- Where
- Czechia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Military University Hospital, Prague
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
Systemic Lupus Erythematosus (SLE)
GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease for which the aetiology includes genet-ic and environmental factors. It is rare in children as compared to adults.
- Trial name
- GENIAL (NCT01992666)
- Testing
- Blood sampling
- Where
- 26 sites in France
- Volunteers
- 271 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Hypertension
The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension
The variations of ENaC have an impact on the degradation of epithelial sodium channels and sodium reabsorption, and thus are associated with hypertension and hypokalemia.
- Trial name
- NCT00448162
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College
Creutzfeldt-Jakob Disease (CJD)
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)
Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal.
- Trial name
- NHS_CJD (NCT05746715)
- Where
- Israel
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Segmental Dysplastic Nevi
Genetic Identification (ID) of Segmental Dysplastic Nevi
The investigators' goal is to identify the mutation in the gene that is responsible for the development of segmental dysplastic nevi. To identify the gene the investigators may use a candidate gene approach (i.e.
- Trial name
- NCT00955578
- Testing
- Punch Biopsy
- Where
- Canada
- Volunteers
- healthy volunteers welcome
- Sponsor
- Nova Scotia Health Authority
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
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
Predisposition, Genetic, Cancer
Investigating the Role of Genetics in Disease Predisposition
Gametogenesis is the production of sperm and eggs; it takes place through the process of meiosis. Gametogenesis is subject to the acquisition of mutations as with other processes in the body.
- Conditions
- Predisposition, Genetic, Cancer, Mutation, Fertility Disorders
- Trial name
- NCT06584994
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
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