Clinical trials: Mendelian Disorders
Hypertension, Dyslipidemias
Exploring the Effects of Antihypertensive and Lipid-Lowering Drugs on Inflammatory Cytokine Levels
This study investigates the causal relationships between antihypertensive and lipid-lowering drugs and inflammatory cytokines using a drug-targeted Mendelian randomization approach.
- Conditions
- Hypertension, Dyslipidemias, Inflammatory Response, Chronic Inflammation
- Trial name
- MRDLT (NCT06622304)
- Where
- China
- Volunteers
- 250,736 people
- Sponsor
- Guangzhou Institute of Respiratory Disease
Rheumatoid Arthritis, Periodontitis
Study of the Causal Link Between Rheumatoid Arthritis and Periodontitis Using Mendelian Randomization
This study aims to investigate the causal relationship between rheumatoid arthritis and periodontitis using Mendelian randomization.
- Trial name
- RAPD-MR (NCT06603207)
- Volunteers
- 220,000 people
- Sponsor
- Zhibin Xu
Placenta Previa
Causal Relationship Between Plasma VEGF Family Proteins and Placenta Previa: A Two-Sample Mendelian Randomization Study
This study aims to investigate the causal relationship between plasma vascular endothelial growth factor (VEGF) family proteins and placenta previa using a two-sample Mendelian randomization (MR) approach.
- Trial name
- VEGF PP (NCT06620068)
- Volunteers
- 207,473 people
- Sponsor
- Guangzhou Institute of Respiratory Disease
Mendelian Disorders
Genetics of Mendelian Diseases in Qatar
There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations.
- Trial name
- NCT02021734
- Where
- Qatar
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Autosomal Dominant Cases of Alzheimer 's Disease
Genetics of Mendelian Forms of Young Onset Alzheimer Disease
Genetics of mendelian forms of young onset Alzheimer Disease (GMAJ project) Introduction : Autosomal dominant forms of Alzheimer disease (AD) are characterized by young age of onset.
- Trial name
- GMAJ (NCT01622894)
- Testing
- Genetic-Tailored AntiThrombotic Strategy
- Where
- France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Rouen
Smoking Cessation, Smoking Cessation Intervention
Unraveling the Genetic Basis of Nicotine Addiction for Novel Therapeutic Strategies
This case-control study aims to investigate the genetic and molecular bases of nicotine addiction to identify potential therapeutic targets.
- Conditions
- Smoking Cessation, Smoking Cessation Intervention, Nicotine Addiction, Epigenetics
- Trial name
- NicoGen (NCT06471387)
- Testing
- Flexiquit Smoking Cessation Intervention
- Where
- Cyprus
- Volunteers
- 200 people
- Sponsor
- University of Cyprus
Mendelian Disorders, Genetic Disorder
Delineation of Novel Monogenic Disorders in the United Arab Emirates Population
The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in…
- Conditions
- Mendelian Disorders, Genetic Disorder, Novel Mutation, Hereditary Disorder
- Trial name
- NCT03589079
- Testing
- Sanger and/or Next Generation Sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 150 people
- Sponsor
- Imperial College London Diabetes Centre
Anxiety Disorder, Depression
Evaluation of Association Between Testosterone Levels, Dementia, and Adverse Mental Health Outcomes
This study evaluates the association between testosterone levels and risk of dementia and adverse mental health outcomes (e.g. depression and anxiety).
- Conditions
- Anxiety Disorder, Depression, Genetic Disorder, Hematopoietic and Lymphoid Cell Neoplasm
- Trial name
- NCT04743466
- Testing
- Electronic Health Record Review
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Allergic Rhinitis, Asthma
Causal Associations Between Allergic Rhinitis and Asthma
This study investigates the causal relationship between allergic rhinitis and asthma using a bidirectional two-sample Mendelian randomization approach.
- Trial name
- NCT06668974
- Testing
- Mendelian Randomization
- Where
- China
- Volunteers
- 239,607 people
- Sponsor
- Zhibin Xu
Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified
Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
The purpose of this study is to determine whether bilateral orthotopic lung transplantation (BOLT) followed by cadaveric partially-matched hematopoietic stem cell transplantation (HSCT) is safe and effective for patients aged…
- Conditions
- Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified, Severe Chronic Neutropenia, Chronic Granulomatous Disease (CGD)
- Trial name
- BOLT+BMT (NCT01852370)
- Testing
- CD3/CD19 negative allogeneic hematopoietic stem cells
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Paul Szabolcs
Genetic Diseases, Genetic Syndrome
Perinatal Precision Medicine
This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, randomized, blinded study to either rapid…
- Conditions
- Genetic Diseases, Genetic Syndrome, Mendelian Disorders
- Trial name
- NSIGHT2 (NCT03211039)
- Testing
- Genomic sequencing and molecular diagnostic results, if any.
- Where
- United States
- Volunteers
- 213 people
- Sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
Congenital Anomalies, Mendelian Disorders
Evaluating Prenatal Exome Sequencing Study
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies…
- Conditions
- Congenital Anomalies, Mendelian Disorders, Genetic Diseases, Inborn
- Trial name
- EPES (NCT05290701)
- Where
- Netherlands
- Volunteers
- 235 people
- Sponsor
- Leiden University Medical Center
Cholesterol, HDL, Lipid Metabolism, Inborn Errors
Mendelian Reverse Cholesterol Transport Study
The purpose of this study is to investigate the use of radiolabeled particulate cholesterol administered intravenously in association with albumin, as a method to study reverse cholesterol transport (RCT) in people carrying…
- Conditions
- Cholesterol, HDL, Lipid Metabolism, Inborn Errors, Tangier Disease, LCAT Deficiency
- Trial name
- NCT01782027
- Testing
- 3H-cholesterol bound to albumin
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Hidradenitis Suppurativa
Hidradenitis - an Analysis of Genetic Traits and Linkages in Families
The aim of this study is to find a genetic link or family trait connecting persons with Hidradenitis Suppurativa (HS) to each other. As a result, discover the cause and perhaps treatment for Hidradenitis Suppurativa (HS).
- Trial name
- NCT05710393
- Where
- United States
- Volunteers
- 97 people
- Sponsor
- University of Chicago
Enchondromatosis
Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing
Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood.
- Trial name
- NCT06749366
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Kidney Cancer
Risk-based Screen and Prognostic Analysis for Second Primary Malignancies in Kidney Cancer Patients
Second primary malignancy (SPM) significantly impacts the survival and prognosis of patients. This study endeavors to identify risk and prognostic factors associated with SPM after first primary kidney cancer and construct…
- Trial name
- NCT06531629
- Testing
- Surgery, radiation therapy and chemotherapy
- Where
- China
- Volunteers
- 72,408 people
- Sponsor
- Peking University First Hospital
Rare Diseases
DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders
There are more than 7000 known genetic disorders, and the number of affected is estimated to be about 6-10% of the population. Around 30 to 40% of genetic disorders have physical changes in the face and skull such as Down's…
- Trial name
- NCT05913843
- Testing
- Take photo
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital