Clinical trials: Gene Mutations
Acromegaly
Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly
Acromegaly is a rare disease caused by growth hormone (GH) secreting pituitary adenoma in more than 95% of cases. Acromegaly can be seen sporadically or may be associated with a variety of genetic syndromes such as Multiple…
- Trial name
- AIP (NCT01902420)
- Where
- Turkey (Türkiye)
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
Myelodysplastic Syndromes
Comprehensive Molecular and Clinical Evaluation of Pediatric and Adult MDS
Background: Myelodysplastic syndromes (MDS) occur when the cells that make blood cells are abnormal. There are limited treatment options for MDS.
- Trial name
- NCT05350748
- Where
- United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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
Ventricular Tachycardia
Calmodulin Gene Mutations in Patients With Ventricular Arrhythmia of Unknown Origin - A Screening Study
The aim of this study is to screen a well characterized patient population with ventricular tachycardia of unknown origin and treated with an implantable cardioverter-defibrillator (ICD) for mutations in the calmodulin genes.
- Trial name
- NCT01947543
- Where
- Sweden
- Volunteers
- healthy volunteers welcome
- Sponsor
- Region Örebro County
Acute Myeloid Leukemia, Myelodysplastic Syndromes
Screening Gene Mutations in Myeloid Cancers by Next Generation Sequencing to Improve Treatment Results
Genetic mutations have closely linked to the pathogenesis and prognostication of myeloid cancers. In addition, a number of molecularly targeted agents have been developed in recent years.
- Conditions
- Acute Myeloid Leukemia, Myelodysplastic Syndromes, Myeloproliferative Neoplasm, Aplastic Anemia
- Trial name
- NCT04060485
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Parkinson's Disease
Parkin Mutations and Their Functional Consequences
Parkinson's disease (PD) is the most frequent neurodegenerative disease with a prevalence of 2% over 65 years and because of this high prevalence as the population ages, it is a major problem of public health.
- Trial name
- NCT00136721
- Where
- France
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Fabry Disease
Androgenetic Alopecia in Fabry Disease
The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness).
- Trial name
- NCT01295008
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation
Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome
Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis.
- Conditions
- BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P, MLH1 Gene Mutation
- Trial name
- NCT04009148
- Testing
- CASCADE genetic screening
- Where
- United States
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
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
Diffuse Large B Cell Lymphoma
ZR-CHOP in DLBCL With Specific Gene Abnormality
This is a phase 2, single center clinical trial. to evaluating the efficacy and safety of Zanubrutinib in combination with R-CHOP in newly diagnosed diffuse large B-cell lymphoma with specific gene abnormality.
- Trial name
- NCT05290337
- Testing
- zanubrutinib
- Where
- China
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Fudan University
Pulmonary Arterial Hypertension
BMPR2 Mutations and Iron Metabolism in Pulmonary Arterial Hypertension
Previously characterised PAH patients, including idiopathic, heritable and other forms of group 1 PAH with and without BMPR2 mutation which have already been analysed and are regularly seen in the Center for Pulmonary…
- Trial name
- AMIA (NCT04086537)
- Testing
- hepcidin levels and BMPR2 expression
- Where
- Germany
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Atypical Hemolytic Uremic Syndrome
Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy
Hemolytic Uremic Syndrome (HUS) is a rare disease characterized by rupture of red blood cells (hemolytic anemia), low platelet count (thrombocytopenia), and thrombotic occlusion of small vessels (thrombotic microangiopathy), with…
- Trial name
- aHUS-iPSC-EC (NCT05805202)
- Testing
- Blood sampling and urine analysis
- Where
- Italy
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Frontotemporal Lobar Degeneration
Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers
The purpose of this study is to investigate whether cognitive deficits, structural and functional changes can be detected before symptom onset in presymptomatic progranuline mutation carriers.
- Trial name
- Predict-PGRN (NCT04014673)
- Testing
- Behavioral : Characterization
- Where
- 2 sites in France
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
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
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
Mitochondrial Disorders, Li-Fraumeni Syndrome
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer.
- Conditions
- Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
- Trial name
- NCT00406445
- Where
- United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Microvessels, Carbohydrate Metabolism
Cardiometabolic and Mental Health in the RGV
Microvascular insulin resistance has been shown to precede myocyte insulin resistance and impairments in metabolic function. However, there is no convincing data showing the relationship between impaired microvascular flow and…
- Conditions
- Microvessels, Carbohydrate Metabolism, Diabetes Mellitus, Type 2
- Trial name
- NCT03436875
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Texas Rio Grande Valley
Congenital Central Hypoventilation Syndrome
Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control characterized by ventilatory impairment that results in arterial hypoxemia.
- Trial name
- CCHS (NCT01225679)
- Testing
- positive airway pressure, Non-invasive mechanic ventilation
- Where
- Brazil
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Associação Fundo de Incentivo à Pesquisa