Clinical trials: Mutations
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
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
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)
Autism Spectrum Disorders
Susceptibility Genes in Autism Spectrum 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
- NCT02628808
- Where
- 5 sites in France
- Volunteers
- 1,616 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
HIV-1, AIDS
HLA-B35 Alleles and AIDS
This study will identify variations in the genome of the human immunodeficiency virus (HIV) early after infection and following the development of AIDS.
- Trial name
- NCT00340223
- Where
- 7 sites in United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative
Genetics and Shared Decision Making in Improving Care for Patients With Stage IVA-C Non-small Cell Lung Cancer
This trial studies the use of genetics and shared decision making in improving care for patients with stage IVA-C non-small cell lung cancer.
- Conditions
- Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative, Activating ROS1 Gene Mutation Negative, Health Care Provider
- Trial name
- NCT03944265
- Testing
- Counseling, Questionnaire Administration, Medical Chart Review
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
BRCA1 Mutation, Breast Cancer
Studying the Effect of Denosumab on Preventing Breast Cancer in Women With a BRCA1 Germline Mutation
This phase III trial compares denosumab to placebo for the prevention of breast cancer in women with a BRCA1 germline mutation. A germline mutation is an inherited gene change which, in the BRCA1 gene, is associated with an…
- Conditions
- BRCA1 Mutation, Breast Cancer, Breast Diseases, Breast Neoplasms
- Trial name
- BRCA-P (NCT04711109)
- Testing
- Denosumab, Quality-of-Life Assessment
- Where
- 47 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Alliance for Clinical Trials in Oncology
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
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
Parkinson Disease, GBA Gene Mutation
Evaluation of the Frequency and Severity of Sleep Abnormalities in Patients With Parkinson's Disease
Sleep disturbances are one of the most common non-motor symptoms in PD, with an estimated prevalence as high as 40-90%. Sleep disturbances (particularly sleep duration, sleep fragmentation, Rapid Eye Movement (REM) sleep behavior…
- Conditions
- Parkinson Disease, GBA Gene Mutation, Leucine-rich Repeat Kinase 2 (LRRK2) Gene Mutation
- Trial name
- NCT04387812
- Testing
- Xtrodes home PSG system
- Where
- Israel
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Genetic Disease, Nonsense Mutation
Phase 1 Study of ELX-02 in Healthy Adults
Phase 1 Single Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03292302
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Photoaging
Sample Collection Study to Assess Prevalence of Gene Mutations: Establishing Population Norms
This is a multi-center, sample collection study to quantitatively assess the presence of gene mutations in subject's skin collected non-invasively.
- Trial name
- NCT05079737
- Testing
- Mutation Burden
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- DermTech
Acute Myeloid Leukemia
Functional Role of RUNX1 Mutations in the Etiology of Acute Myeloid Leukemia (AML)
The purpose of this study is to elucidate the role of RUNX1 in Acute Myeloid Leukemia (AML), in particular, the transcriptional regulation of genes by mutated forms of this protein.
- Trial name
- NCT01329471
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Hillel Yaffe Medical Center
Increased Oocyte Death, in Vitro Maturation
GREM1, HAS2 and PTGS2 Gene Expression Following the in Vitro Maturation (IVM)
Poor ovarian reserve (POR) is an adverse prognostic factor for In-Vitro Fertilization (IVF) success. Numerous established data showed low live birth rates per IVF cycle; 6 to 10%, including the usage of In-Vitro Maturation (IVM).
- Conditions
- Increased Oocyte Death, in Vitro Maturation, GREM1 Gene Mutation, Cumulus Cell
- Trial name
- NCT06315777
- Testing
- cumulus cell oocytes complex (COC) among women with poor ovarian reserve
- Where
- Malaysia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- National University of Malaysia
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
Non-small Cell Lung Cancer
Furmonertinib Monotherapy and Combination Therapy in Advanced EGFR Mutant NSCLC With Uncleared ctDNA
EGFR mutation positive advanced NSCLC patients with uncleared ctDNA have poor prognosis, whether they can benefit from combination therapy has not been reported.
- Trial name
- FOCUS-C (NCT05334277)
- Testing
- Furmonertinib, Furmonertinib/Pemetrexed/Carboplatin, Furmonertinib/Pemetrexed/Carboplatin/Bevacizumab
- Where
- 26 sites in China
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University
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