Clinical trials: Genetic Mutations
Cancer, Breast Cancer
Liquid Biopsy Evaluation and Repository Development at Princess Margaret
The objective of this protocol is to develop an institution-wide liquid biopsy protocol that will establish a common process for collecting blood and corresponding archived tumor specimens for future research studies at the…
- Conditions
- Cancer, Breast Cancer, Lung Cancer, Colon Cancer
- Trial name
- LIBERATE (NCT03702309)
- Where
- Canada
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
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)
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
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Parkinson Disease, Gaucher Disease
Drug Discovery for Parkinson's With Mutations in the GBA Gene
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem…
- Conditions
- Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
- Trial name
- NCT05536388
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Breast Cancer, Hereditary Breast and Ovarian Cancer
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
PROGECT is a registry for patients with Triple Negative breast cancer (TNBC) or patients who have an identified germline mutations (such as a mutation on the BRCA1 or BRCA2 genes).
- Trial name
- PROGECT (NCT02302742)
- Where
- 11 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Ovarian Cancer Prevention
ASA in Prevention of Ovarian Cancer (STICs and STONEs)
While ASA is not a cancer medication, research suggests that taking ASA reduces the probability of getting many types of cancer because of its anti-inflammatory action.
- Trial name
- NCT03480776
- Testing
- Acetylsalicylic acid
- Where
- 17 sites in Australia, Canada
- Volunteers
- 117 people, healthy volunteers welcome
- Sponsor
- Canadian Cancer Trials Group
Frontotemporal Dementia, Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) is a rare clinical entity, in which both disorders are variably associated in the same patient or within the family.
- Trial name
- NCT00159198
- Where
- 15 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Genetics
Parental Irradiation of Ukrainian Cleanup Workers and Evacuees and Germline Mutations in Their Offspring (Trio Study)
Data on transgenerational effects following nuclear accidents are important for understanding fully the consequences of parental exposure to ionizing radiation.
- Trial name
- NCT02566161
- Where
- Ukraine
- Volunteers
- 957 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Metabolic Disease
Characterisation of the Human Carboxylesterase 1 (CES1) Mutations in Thailand
The aim of this study is to evaluate the conversion of OP to OC in individual X and the family member of individual X. The investigators hypothesize that one or more of the single nucleoprotein polymorphisms (SNPs) of the CES1…
- Trial name
- NCT01443806
- Testing
- Oseltamivir
- Where
- Thailand
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Allergic Rhinitis, Peanut Allergies
The Role of Filaggrin Mutations and Sensitization Pathways in Allergic Rhinitis and Peanut Allergy
Caucasian male and female participants age 18 years of age and older will be enrolled in this study if they have known birch or peanut allergies or known to be non-atopic.
- Trial name
- NCT02745418
- Where
- Canada
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Dr. Anne Ellis
Education
Transition From Research to Disclosure in Human Genetics
The goal of this study is to design a means of providing research families, from diverse geographical locations, the chance to receive genetic testing after having been educated by video, and meetings or telephone conversations…
- Trial name
- NCT00505466
- Testing
- Genetic Counseling
- Where
- United States
- Volunteers
- 577 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
RAS Mutation, Ras (Kras or Nras) Gene Mutation
Leflunomide or Combination of MEK Inhibitor and Hydroxychloroquine for Refractory Patients With RAS Mutations
There is a huge variety of nucleotide substitutions that activate RAS. The search for new "universal" drugs for the RAS pathway that either interfere with RAS upregulation upstream in the signaling pathway or offset the…
- Conditions
- RAS Mutation, Ras (Kras or Nras) Gene Mutation, Colorectal Cancer Recurrent, Pancreas Cancer
- Trial name
- NТО-RAS (NCT06229340)
- Testing
- Leflunomide, The combination of MEK inhibitor + hydroxychloroquine( plaquenil) ± bevacizumab
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- N.N. Petrov National Medical Research Center of Oncology
Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns.
- Conditions
- Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III, Roifman Syndrome, Lowry Wood Syndrome
- Trial name
- ATAC (NCT06111950)
- Testing
- Blood samples, Skin biopsies, Fetal samples
- Where
- 6 sites in France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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
Urticaria Pigmentosa, Cutaneous Mastocytosis
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
Pediatric mastocytosis is an orphan disease, which encompasses several clinically distinct entities including solitary mastocytoma, urticaria pigmentosa, diffuse cutaneous mastocytosis and the newly recognized mast cell…
- Trial name
- NCT02761473
- Testing
- skin biopsy, blood draw
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Myocardial Deformation, Coronary Artery Anomaly
Correlation Between Myocardial Deformation and Coronary Artery Tortuosity in Patients With Hypertrophic Cardiomyopathy
Correlation between Myocardial Deformation and Coronary Tortuosity and Analysis of Genetic Factors Among Hypertrophic Cardiomyopathy Patients
- Conditions
- Myocardial Deformation, Coronary Artery Anomaly, Hypertrophic Cardiomyopathy, Genetic Mutation
- Trial name
- NCT04830787
- Testing
- no intervention
- Where
- China
- Volunteers
- 302 people, healthy volunteers welcome
- Sponsor
- Henan Provincial People's Hospital
Tubulointerstitial Kidney Diseases, MUC1 Kidney Disease
Effect of Cholecalciferol on Mucin-1 Levels in Urinary Extracelllular Vesicles in Individuals With Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutations (ADTKD-MUC1)
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is caused by mutations in the MUC1 gene encoding the protein mucin-1.
- Trial name
- CyCHOLEMUC1 (NCT07903909)
- Testing
- Cholecalciferol (Vit D3)
- Where
- Cyprus
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Gregory Papagregoriou