Clinical trials: Genetic Mutations
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor
International PPB/DICER1 Registry
PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence.
- Conditions
- Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor, DICER1 Syndrome, Cystic Nephroma
- Trial name
- NCT03382158
- Where
- United States
- Volunteers
- 3,400 people, healthy volunteers welcome
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Parkinson Disease, LRRK2
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Trial name
- BioPD (NCT04668898)
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Xanthomatosis, Cerebrotendinous
A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)
This is a prospective, non-drug epidemological cohort study aimed to investigate the relatives of these cases with CTX-specific gene mutation and clinical features of CTX disease over CTX index cases diagnosed with CTX disease…
- Trial name
- F-GENE (NCT04218006)
- Testing
- Mutation Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- TRPHARM
Asparagine Synthetase Deficiency, Genetic Diseases, Inborn
Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.
- Trial name
- NCT03587155
- Where
- China
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- The First Hospital of Jilin University
Primary Raynaud's Phenomenon (PR), Genetic Mutations Causing PR
Prospective Multicenter Study on the Identification of Genetic Abnormalities Predisposing to Vasospasm From a Privileged Model: the Primary Raynaud's Phenomenon
Vasospasm is a transient contraction causing a decrease in caliber of a vessel and thus a decrease in vascularization in a vascular territory leading to suffering of tissue in the sector concerned.
- Conditions
- Primary Raynaud's Phenomenon (PR), Genetic Mutations Causing PR, Study of Patients and Their Relatives (With or Without Primary PR)
- Trial name
- RAY-GENE (NCT02202291)
- Testing
- Demonstration of genetic mutations causing Raynaud's phenomenon
- Where
- 6 sites in France
- Volunteers
- 258 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Autism Spectrum Disorder
Study of the Genetic Factors Involved in Autism and Related Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- Gene&autism (NCT04727489)
- Testing
- DNA from subjects will be stored in the biobank of our study.
- Where
- 6 sites in France
- Volunteers
- 3,800 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Romano-Ward Syndrome, Long QT Syndrome
Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients.
The objectives of the study are to investigate if KCNQ1 mutation in Romano-Ward long QT patients can be associated with changes in insulin regulation and with psychological features of compulsivity, impulsivity and behavioural…
- Conditions
- Romano-Ward Syndrome, Long QT Syndrome, Compulsive Behavior, Healthy Individuals
- Trial name
- PRIME (NCT04715256)
- Testing
- Cognitive assessment of obsessive-compulsive and impulsive behaviours, Genomic analysis, Glucoregulation assessment
- Where
- 2 sites in France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Biotrial
Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly.
- Trial name
- NCT01098929
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Salmonella
Safety and Immunogenicity of CVD 1902 Oral Attenuated Vaccine to Prevent S. Paratyphi A Infection
The purpose of this study is to determine whether CVD 1902 (a live, attenuated, oral vaccine) is safe and effective in the prevention of Salmonella enterica serovar paratyphi A infection.
- Trial name
- NCT01129453
- Testing
- CVD 1902, a Salmonella enterica Serovar Paratyphi A live, oral vaccine
- Where
- 2 sites in United States
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003
This is a Phase 1, First-in-Human study to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and immunogenicity of PYC-003 in healthy adult participants and adult participants with confirmed PKD1…
- Trial name
- NCT06714006
- Testing
- PYC-003
- Where
- 12 sites in Australia, Hong Kong and 1 more
- Volunteers
- 166 people, healthy volunteers welcome
- Sponsor
- PYC Therapeutics
Cancer
Clinical Validation of the Role of microRNA Binding Site Mutations in Cancer Risk, Prevention and Treatment
The investigators will recruit and enroll individuals that may have the KRAS-variant or other microRNA binding site mutations to join registry studies.
- Trial name
- NCT02253251
- Testing
- KRAS-variant and microRNA binding site mutation testing
- Where
- United States
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- MiraKind
Inherited Retinal Degeneration Associated With RPGR Mutations, Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
Monitoring and Early Detection of Treatable Inherited RETinal Disease in Children and Adolescents
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium…
- Trial name
- MEDIRET (NCT07901907)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 4,887 people, healthy volunteers welcome
- Sponsor
- University College, London
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
Stomach Neoplasms, Stomach Cancer
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers.
- Conditions
- Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC)
- Trial name
- NCT03030404
- Where
- United States
- Volunteers
- 733 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Detection and Genotyping of Factor V and Factor II Point Mutations
Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA
As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites.
- Trial name
- NCT00959504
- Volunteers
- 275 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
BRCA1 Mutation, BRCA2 Mutation
Promoting Men's Adherence to BRCA1/2 Germline Genetic Testing
BRCA1- and BRCA2-associated Hereditary Breast and Ovarian Cancer Syndrome (HBOC) increases the relative and absolute risk of developing breast and ovarian cancer and, to a lesser extent, prostate and pancreatic cancer.
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, Psychosocial Factors
- Trial name
- BRCA-MEN (NCT04683068)
- Testing
- Message comparison
- Where
- Italy
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- European Institute of Oncology