Clinical trials: Genetic Mutations
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
Alzheimer Disease
Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease 18F-Florbetaben Positron Emission Tomography Study
The main purpose of the study is to assess safety of a single dose of FBB followed by PET scan in individuals at risk of genetic Alzheimer's disease.
- Trial name
- NCT02362880
- Testing
- Florbetaben
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Judit Pich Martínez
Altitude Intolerance, High-Altitude Illness
Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness
This study is is the first step of a full study named CHEMOGENE because it explores the genetic determinant of an alteration of the chemoreflex.
- Trial name
- NCT00202683
- Where
- France
- Volunteers
- 83 people, healthy volunteers welcome
- Sponsor
- Société Française de Cardiologie
Obesity
GLP-1 Response and Effect in Individuals With Obesity Causing Genetic Mutations
The obesity epidemic is attributable to dietary and behavioral trends acting on a person's genetic makeup to determine body mass and susceptibility to obesity-related diseases.
- Trial name
- NCT02082496
- Testing
- Liraglutide
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Kartagener Syndrome
Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect…
- Trial name
- NCT00807482
- Where
- United States
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Pulmonary Arterial Hypertension
BMPR2 Mutations and Iron Metabolism in Pulmonary Arterial Hypertension
Previously characterised PAH patients, including idiopathic, heritable and other forms of group 1 PAH with and without BMPR2 mutation which have already been analysed and are regularly seen in the Center for Pulmonary…
- Trial name
- AMIA (NCT04086537)
- Testing
- hepcidin levels and BMPR2 expression
- Where
- Germany
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Short Stature
IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls.
- Trial name
- NCT02636270
- Testing
- Increlex
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Usefulness of Video-Based Intervention in Helping Participants Encourage Their Families to Get Tested for BRCA Gene Mutations
This trial studies how well a video-based intervention works in helping participants encourage their families to get tested for BRCA gene mutations.
- Trial name
- NCT05264532
- Testing
- Informational Intervention, Survey Administration
- Where
- United States
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
MutYH-associated Polyposis
MUTYH-associated Polyposis
This is single-center, prospective, non-randomized study
- Trial name
- MAP (NCT03847532)
- Testing
- Sanger sequencing method
- Where
- Russia
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- State Scientific Centre of Coloproctology, Russian Federation
Epidermolysis Bullosa
Topical Gentamicin Nonsense Suppression Therapy of EB
The overall purpose of this study is to address whether topical gentamicin therapy is an effective and feasible treatment. Specifically, we will investigate the effect of non-intensive treatment (once daily or every other day) on…
- Trial name
- GENTELBULL (NCT04644627)
- Testing
- Gentamicin Sulfate
- Where
- Norway
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Oslo University Hospital
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
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
Body Mass Index 25 or Greater, BRCA1 Gene Mutation
Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients, Lynch Syndrome-Positive Patients, CLL Survivors or High-Risk Family Members
This pilot clinical trial studies different types of energy balance interventions to see how well they work in increasing the physical activity levels of breast cancer gene-positive patients, Lynch syndrome-positive patients…
- Conditions
- Body Mass Index 25 or Greater, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Breast Carcinoma
- Trial name
- NCT02194387
- Testing
- Dietary Intervention, Internet-Based Intervention, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 337 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR)
AYLo - AutoimmunitY and Loss of y
The AYLo study (AutoimmunitY and Loss of y - Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases) aims to systematically investigate hematopoietic…
- Conditions
- Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR), ANCA Associated Vasculitis (AAV), Idiopathic Inflammatory Myopathies
- Trial name
- AYLo (NCT06696027)
- Testing
- Single nucleotide polymorphisms (SNP), 3'mRNA sequencing, Enzyme-linked immunosorbent assay (ELISA) and Legendplex Array
- Where
- Germany
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Bonn
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
Lynch Syndrome, Lynch Syndrome I
Videocapsule Endoscopy in Lynch Syndrome
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation
- Trial name
- NCT05704010
- Testing
- Video capsule endoscopy
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
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
Myelodysplastic Syndromes
Comprehensive Molecular and Clinical Evaluation of Pediatric and Adult MDS
Background: Myelodysplastic syndromes (MDS) occur when the cells that make blood cells are abnormal. There are limited treatment options for MDS.
- Trial name
- NCT05350748
- Where
- United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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