Clinical trials: Genetic Mutation
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
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
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
Familial Mediterranean Fever, MEFV Gene Mutation
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome.
- Trial name
- DEPIST-FMF 2 (NCT04478409)
- Testing
- one additional blood sample during a planned blood test
- Where
- 8 sites in France
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Breast Cancers, Ovarian Cancers
Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
- Trial name
- GENEPSO (NCT03667417)
- Testing
- Questionnaires
- Where
- France
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Institut Paoli-Calmettes
Mutation, Point
Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease
In a previous study, we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus (IIN) and foveal hypoplasia, which follow an autosomal recessive mode of…
- Trial name
- NCT03566745
- Testing
- Blood for protein activity
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hillel Yaffe Medical Center
Prostate Cancer, Hereditary Prostate Cancer
Targeted Prostate Cancer Screening in Men With BRCA1/2 Mutations
This interventional study is a follow-up component of the IMPACT project, which aims to identify men at increased hereditary risk of prostate cancer.
- Trial name
- IMPACT (NCT07416812)
- Testing
- Targeted Prostate Cancer Screening, Telephone Follow-Up Interview
- Where
- Slovenia
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Institute of Oncology Ljubljana
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
Gene Insertions, Gene Deletion
Gene Biobank of Sports Injuries
Preserve biological samples and gene extracts of all sports medicine-related diseases. To study related gene mutation sites and regulation. To study related molecular mechanisms and signaling pathways.
- Trial name
- NCT04997629
- Where
- China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
BRCA1 Mutation Carrier, BRCA2 Mutation Carrier
Soy Isoflavones Supplementation in Treating Women at High Risk For or With Breast Cancer
RATIONALE: Chemoprevention is the use of certain drugs to keep cancer from forming. The use of soy isoflavones supplements may prevent or treat early stage breast cancer.
- Conditions
- BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Ductal Breast Carcinoma in Situ, Lobular Breast Carcinoma in Situ
- Trial name
- NCT01219075
- Testing
- soy isoflavones, questionnaire administration, magnetic resonance imaging
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Cancer Genetics
Adaptation to Living With a BRCA1/2 Mutation
Background: Women who have a BRCA1/2 gene mutation have a very high risk of developing breast or ovarian cancer. They are also at increased risk of other developing other cancers.
- Trial name
- NCT01866865
- Where
- United States
- Volunteers
- 142 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Intrahepatic Cholestasis of Pregnancy, Genetic Mutation
Bile Acids Metabolism and Genetic Mutation Profile in the Intrahepatic Cholestasis of Pregnacy in Indian Population
Intrahepatic cholestasis of pregnancy (ICP) is a disorder characterized by itching, elevated fasting serum bile acids ≥10μmol/L (and elevated serum transaminases), with increased risks of perinatal complications, including…
- Conditions
- Intrahepatic Cholestasis of Pregnancy, Genetic Mutation, Health Related Quality of Life
- Trial name
- ICP (NCT05691036)
- Where
- India
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Post Graduate Institute of Medical Education and Research, Chandigarh
Factor V Leiden, Prothrombin G20210A
A Single Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of CITY-FXI in Healthy Adults, Adults With FV Leiden or Prothrombin G20210A Mutation, and Adults With a History of Provoked Venous Thromboembolism
This is a first-in-human (FIH), single-center, randomized, double-blind, placebo-controlled, single ascending and multiple dose study evaluating the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of…
- Conditions
- Factor V Leiden, Prothrombin G20210A, Venous Thromboembolism (VTE)
- Trial name
- NCT07430397
- Testing
- CITY-FXI
- Where
- United Kingdom
- Volunteers
- 182 people, healthy volunteers welcome
- Sponsor
- City Therapeutics
Renal Tumor Histology, Kidney Cancer
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer
- Trial name
- NCT05534854
- Testing
- Gene test
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- RenJi Hospital
Genetic Predisposition, BRCA Mutation
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives
The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for…
- Conditions
- Genetic Predisposition, BRCA Mutation, Breast Cancer, Occult Cancer
- Trial name
- OBC-PM (NCT05771454)
- Testing
- Histopathological confirmation
- Where
- Pakistan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Aga Khan University Hospital, Pakistan
HIV-1 Infection
Dolutegravir-Lamivudine as Dual Therapy in naïve HIV-Infected Patients With Documented M184V Mutation:A Pilot Study
The purpose of this study is to evaluate the antiviral efficacy, safety and tolerability of dual therapy with 3TC and DTG as initial therapy among naïve HIV patients with a documented M184V mutation.
- Trial name
- PADDLE184V (NCT05295394)
- Testing
- Dolutegravir plus lamivudine
- Where
- 2 sites in Argentina
- Volunteers
- healthy volunteers welcome
- Sponsor
- Pedro Cahn
Somatic Mutation
SMS - Study of Somatic Mutations Using Genome Sequencing
Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and…
- Trial name
- SMS (NCT06851052)
- Testing
- sample collection, Seeking consent, Sample Collection: Surgical
- Where
- United Kingdom
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
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)
Genetic Alteration, Low Back Pain
Genetic Alterations From Physical Therapy in Low Back Pain and Disc Degeneration
Background and Scientific Rationale: This prospective randomized controlled trial examines the combined effect of physiotherapy and vitamin D supplementation on pain, disability, interleukin-6 (IL-6) expression, and vitamin D…
- Conditions
- Genetic Alteration, Low Back Pain, Physiotherapy
- Trial name
- Low back pain (NCT07439874)
- Testing
- Interferential therapy
- Where
- Saudi Arabia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Tabuk
Healthy, Frontotemporal Dementia
A First in Human Study in Healthy Volunteers and in Participants With Frontotemporal Dementia With Granulin (GRN) Mutation
A first in human phase 1 study in healthy volunteers and participants with Granulin (GRN) mutation causative of frontotemporal dementia (FTD) to assess AL001 safety, tolerability, pharmacokinetics, and pharmacodynamics
- Trial name
- NCT03636204
- Testing
- AL001
- Where
- 8 sites in United States, Canada and 1 more
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Alector Inc.