Clinical trials: Mutation Abnormality
Healthy Subjects, Leber Hereditary Optic Neuropathy
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Leber hereditary optic neuropathy (LHON), due to mitochondrial DNA (mtDNA) mutations, is responsible for profound visual impairment. However, there is evidence that optic nerve damage begins before vision declines.
- Trial name
- MétabOCT (NCT06682819)
- Testing
- Optical coherent tomography
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hôpital Necker-Enfants Malades
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
Schizophrenia
A Study on Risk Mutations of Vulnerability Genes of Schizophrenia
This project entitled "A Study on Risk Mutations of the Vulnerability Genes of Schizophrenia" (RIGOS) is a continuous effort following the well founded and arduous work of genetic study on schizophrenia (SCH) by the Genomic…
- Trial name
- NCT00155207
- Where
- Taiwan
- Volunteers
- 1,065 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
DDX41 Gene Mutation
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic…
- Trial name
- LUCID (NCT06022016)
- Testing
- For each person (index case or related) included in this study:
- Where
- 5 sites in France
- Volunteers
- 910 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
- Trial name
- NCT00589225
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 902 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
- Conditions
- Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L, Healthy Volunteers
- Trial name
- Rementips (NCT02980302)
- Testing
- Cutaneous biopsy
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Diabetes Prevention Program With or Without Hunger Training in Helping to Lower Breast Cancer Risk in Obese Participants
This pilot trial studies how well a diabetes prevention program with or without hunger training works in helping to lower breast cancer risk in obese participants.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Ductal Breast Carcinoma In Situ, Obesity
- Trial name
- NCT03546972
- Testing
- Behavioral, Psychological or Informational Intervention, Questionnaire Administration
- Where
- United States
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Response Assessment in Newly Diagnosed RA Patients at 3rd Month Was Evaluated by DAS28 and ACR in Relation to JAK Expression
JAK2 Mutation May Predict Response and Guide First Line Treatment in Rheumatoid Arthritis
This study included 76 newly diagnosed RA patients and 50 matched controls. Basal JAK2 mutation was assessed by PCR in blood samples, TNF-α and IL 6 were measured by ELISA in serum of patients and controls.
- Trial name
- NCT04667988
- Testing
- JAK expression
- Where
- Egypt
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Helicobacter Pylori Infection
The Prevalence of Family-unit Helicobacter Pylori Infection in Jiangsu
To assess Family-unit Helicobacter Pylori Infection rates and antimicrobial resistance rates in Jiangsu,China
- Trial name
- NCT05654857
- Testing
- PCR test in the stool
- Where
- 16 sites in China
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Nanjing First Hospital, Nanjing Medical University
Hearing Impairment
Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness.
- Trial name
- SURDOM (NCT01150305)
- Testing
- blood sample
- Where
- France
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
ATTR, ATTR Gene Mutation
PET/CT Imaging in Carriers of TTR Mutations
The purpose of this study is to determine if TTR gene carriers have early signs of a type of heart disease called amyloidosis using a new radiotracer dye (iodine-124 evuzamitide, I-124E).
- Conditions
- ATTR, ATTR Gene Mutation, Cardiomyopathy, Transthyretin Mediated Amyloidosis (ATTR)
- Trial name
- EPIC-TTR (NCT07591038)
- Testing
- Iodine-124 Evuzamitide (I-124E)
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Cardiac Allograft Vasculopathy
A P2X7R Single Nucleotide Mutation Promotes Chronic Allograft Vasculopathy
Heart transplantation (HT) is a lifesaving procedure for patients with end-stage heart failure and provides a better survival and quality of life if compared to medical treatment.
- Trial name
- NCT02082821
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Primary Myelofibrosids
JAK2V617F Mutated Endothelium Has a Stem Cell Potential in Primary Myelofibrosis: a New Disease Ontogenesis for Chronic Myeloproliferative Disorders
The present project aims to experimentally test the hypothesis that JAK2V617F mutated endothelium in primary myelofibrosis (PMF) we discovered in 2013 represents an embryonic-like hemogenic endothelium and is part of the…
- Trial name
- NCT07607392
- Where
- Italy
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Major Depressive Disorder
Deplin® P.L.U.S. Program (Progress Through Learning Understanding & Support)
This study will be an observational study in which patients who have been prescribed Deplin® are invited to participate in surveys regarding their experiences with Deplin®.
- Trial name
- NCT01369030
- Testing
- Deplin®
- Where
- 2 sites in United States
- Volunteers
- 554 people, healthy volunteers welcome
- Sponsor
- Pamlab, Inc.
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
Atherosclerosis
Arterial Function and Atherosclerosis in Essential Thrombocythemia
The aim of the study is to examine (a) whether patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show more advanced progression of arterial stiffness, pulse-wave…
- Trial name
- NCT03828422
- Testing
- imaging
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- University Medical Centre Ljubljana
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
Cancer Gene Mutation
Telephone Versus In-person Post-test Cancer Genetic Counseling
The purpose of the GEO-STAR randomized non-inferiority trial is to compare the outcome of post-test telephone cancer genetic counseling with standard in-person cancer genetic counseling.
- Trial name
- GEO-STAR (NCT04759352)
- Testing
- Post-test genetic counseling delivered by telephone
- Where
- Italy
- Volunteers
- 724 people, healthy volunteers welcome
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Lung Cancer
Correlation Between EGFR Mutation Using cfDNAs and Circulating Tumor Cells in Patients With NSCLC
Correlation of epithelial growth factor receptor mutation in blood of lung cancer patient and clinical outcome.
- Trial name
- NCT02422628
- Where
- Taiwan
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital