Clinical trials: Mutation Abnormality
Mitochondrial DNA Mutation, Endoscopy
Multimodal Imaging Based on Pathological and Genomic Characteristics
Mitochondrial DNA mutations in normal gastric tissue, early gastric cancer and advanced gastric cancer were identified by single cell sequencing, and the origin of gastric stem cells was traced and new molecular markers were…
- Trial name
- NCT05196243
- Testing
- Patients diagnosed as gastrointestinal mucosal lesions
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Affiliated Hospital to Academy of Military Medical Sciences
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
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
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.
Breast Cancer, BRCA1 Mutation
Decision Support for BRCA Testing in Ethnically Diverse Women
The objective of this study is to expand genetic testing for hereditary breast and ovarian cancer syndrome to a broader population of high-risk women by prompting appropriate referrals from the primary care setting with the use…
- Conditions
- Breast Cancer, BRCA1 Mutation, BRCA2 Mutation, Ovarian Cancer
- Trial name
- NCT03470402
- Testing
- RealRisks, BNAV, iNYP
- Where
- United States
- Volunteers
- 276 people, healthy volunteers welcome
- Sponsor
- Columbia University
Cancer of Unknown Primary, Bone Cancer Metastatic
Tislelizumab Combined With Chemotherapy in the Treatment of Bone Metastases of Unknown Primary
Through scientific and rigorous design, implementation, follow-up and statistics, the sponsor aims to explore the clinical efficacy and safety of Tislelizumab combined with chemotherapy (platinum + paclitaxel) in the treatment of…
- Conditions
- Cancer of Unknown Primary, Bone Cancer Metastatic, Tislelizumab, Gene Mutation-Related Cancer
- Trial name
- NCT05241132
- Testing
- Tislelizumab plus chemotherapy
- Where
- China
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Wei Xu
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
Acute Myeloid Leukemia (AML)
IDH1/IDH2 Mutation Frequency in Acute Myeloblastic Patients
This leukemia is characterized by a poor prognosis for most patients, as they have a high relapse rate despite aggressive treatment with chemotherapy agents and allogeneic bone marrow transplantation.
- Trial name
- NCT03204838
- Testing
- IDH mutation test performed at diagnosis
- Where
- Mexico
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital General de Mexico
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
Uveal Melanoma, Cutaneous Melanoma
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1.
- Conditions
- Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma
- Trial name
- NCT04792463
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Mohamed Abdel-Rahman
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
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Zhongmou Therapeutics
Somatic Mutation, Ocular Melanoma
iSITE: Investigation of Somatic Alterations in Tumours of the Eye
Modern DNA sequencing technologies enable researchers to identify mutations that have been acquired during the lifetime of patients (somatic mutations).
- Trial name
- iSITE (NCT06861647)
- Testing
- sample collection, Discussing study/seeking consent, Completion of Study Questionnaire
- Where
- United Kingdom
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
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
Colorectal Cancer
Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI
Objectives: In this Radboud University Nijmegen Medical Centre (RUNMC) initiated study our first objective is to investigate toxicity (safety and feasibility) of vaccination with frameshift-derived neoantigen-loaded DC of CRC…
- Trial name
- NCT01885702
- Testing
- DC vaccination
- Where
- Netherlands
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Mutation, Obesity
Identification and Metabolic Characterization of a Cohort of Human Subjects With Mutations in PRDM-16
Chinese male subjects will be invited to participate in a research study of brown fat, a special tissue in the body that is designed to burn energy to make heat.
- Conditions
- Mutation, Obesity, Dyslipidemia, Diabetes
- Trial name
- NCT02808715
- Testing
- Blood Sample Collection
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- National Heart Centre Singapore
Infections, Pneumonia
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a…
- Conditions
- Infections, Pneumonia, Immune System Diseases, STAT3 Transcription Factor
- Trial name
- NCT00006150
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Hereditary Breast and Ovarian Cancer, Mutation
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
TUMOSPEC is a national family study designed to measure the relative and absolute risk of cancer for carriers of deleterious mutations to these "new" breast cancer (BC) susceptibility genes.
- Trial name
- TUMOSPEC (NCT03246841)
- Testing
- Genetic testing
- Where
- 2 sites in France
- Volunteers
- 7,274 people, healthy volunteers welcome
- Sponsor
- UNICANCER
Schizophrenia, Chinese Han People
Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia
Several chromosomal loci obtained from genetic linkage studies have been reported of relating to schizophrenia. These areas include of 1q32-41, 6p24-21, 8p22-21, 15q13-14, and 22q11-12.
- Trial name
- NCT00155701
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital