Clinical trials: Genetic Association Studies
Major Depressive Disorder (MDD, Anxiety Disorder, Generalized
Serotonin Variants & Gut Microbiota in Mental Health
This observational pilot study investigates whether a broad panel of genetic variants relevant to the serotonin pathway (including serotonergic system, methylation cycle, intestinal barrier integrity, and inflammatory response…
- Conditions
- Major Depressive Disorder (MDD, Anxiety Disorder, Generalized, Stress Disorders, Post-Traumatic, Panic Disorder
- Trial name
- NCT07634458
- Testing
- SNP Genotyping and Gut Metagenomics
- Volunteers
- 30 people
- Sponsor
- Neurobiologix
Hemophilia A
Quality of Life Study of Helixate NexGen
The aim of this study is to describe Health Related Quality of Life (HRQoL) in adolescents and adults with Hemophilia A treated prophylactically or on-demand with Helixate NexGen.
- Trial name
- NCT01053715
- Where
- 31 sites in Austria, Belgium and 5 more
- Volunteers
- 78 people
- Sponsor
- CSL Behring
Schizo-affective Disorder, Bipolar Disorder
Neurobiology of a Mutation in Glycine Metabolism in Psychotic Disorders
The purpose of this study is to assess the efficacy of oral glycine as an augmentation strategy in two psychotic patients with a triplication (4 copies) of the gene glycine decarboxylase (GLDC).
- Trial name
- NCT01720316
- Testing
- Glycine
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Mclean Hospital
Chikungunya Fever
Genetic Factors and Immunological Determinism of Persistent Consequences of Chikungunya
Chikungunya virus (CHIKV) infection has become a threat to public health worldwide. Reunion Island, due to the 2005-2006 epidemic, has acquired unique expertise and remains at the forefront of global research on this disease.
- Trial name
- CHIKGENE (NCT03690648)
- Testing
- Quality of life survey, Saliva collection, Blood collection
- Where
- Reunion
- Volunteers
- 600 people
- Sponsor
- Centre Hospitalier Universitaire de la Réunion
Diabetes, Chronic Kidney Diseases
Benchtop NMR Spectroscopy for Assessment of Clinical Human Pathologies (BRANCH-P STUDY)
This research programme seeks to combine the resources of NHS primary care, with the leading spectroscopic work in low-magnetic fields of the Wilson Group (Nottingham Trent University) to demonstrate the potential for benchtop…
- Conditions
- Diabetes, Chronic Kidney Diseases, Cancer, Bowel Disease
- Trial name
- BRANCH-P (NCT05473325)
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Willows Health
Diabetes Mellitus, Insulin-Dependent
Genetic and Environmental Risk Factors of Type 1 Autoimmune Diabetes and Its Early Complications
The aim of this study is to complete the identification of genetic factors (G) and to undertake the search of environmental factors (E) predisposing to type 1 diabetes (T1D) by constituting a cohort of 3500 T1D patients and a…
- Trial name
- ISIS-DIAB (NCT02212522)
- Testing
- Collect of environmental data on T1D patients before diagnosis, Collect of blood samples for DNA extraction and genetic characterization (GWAS), Collect of clinical data on the disease and its evolution
- Where
- France
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fanconi's Anemia
Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia
OBJECTIVES: I. Evaluate the toxicity of amifostine in patients with bone marrow failure related to Fanconi's anemia. II. Determine the efficacy of this treatment regimen in this patient population. III.
- Trial name
- NCT00006127
- Testing
- amifostine
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Dana-Farber Cancer Institute
Priapism
A Study to Evaluate the Safety and Efficacy of Crizanlizumab in Sickle Cell Disease Related Priapism
The goal of the study was to evaluate the efficacy and safety of crizanlizumab in sickle cell disease (SCD) patients with priapism.
- Trial name
- SPARTAN (NCT03938454)
- Testing
- Crizanlizumab
- Where
- 13 sites in United States
- Volunteers
- 36 people
- Sponsor
- Novartis Pharmaceuticals
Genetic Predisposition to Disease
Breast Cancer Risk After Diagnostic Gene Sequencing
Study of the psychological impact of breast cancer risk communication in Cancer Genetics based on the personalized estimation of the BOADICEA V5/PLUS model ("Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation…
- Trial name
- BRIDGEScohort2 (NCT04145817)
- Testing
- BRIDGES gene panel testing, Breast cancer risk polygenic risk score (PRS), Questionnaires
- Where
- 2 sites in France, Germany
- Volunteers
- 405 people
- Sponsor
- Institut Curie
Fanconi Anemia
Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia
RATIONALE: Giving low doses of chemotherapy, such as cyclophosphamide, before a donor bone marrow transplant helps stop the growth of abnormal cells.
- Trial name
- NCT00317876
- Testing
- cyclophosphamide, cyclosporine, methotrexate
- Where
- 3 sites in United States, Brazil
- Volunteers
- 25 people
- Sponsor
- Fred Hutchinson Cancer Center
Drug-Related Side Effects and Adverse Reactions, Treatment Failure
DOAC ADRs Retrospective Study on Genetic Variations
The purpose of this study is to see if the participant's genetic profile and clinical factors (age, drug dose, etc.) affect drug outcomes (i.e.
- Trial name
- DARES1 (NCT04580589)
- Where
- United States
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- Cipherome, Inc.
Limb Girdle Muscular Dystrophy
A Gene Transfer Study to Evaluate the Safety, Tolerability and Efficacy of SRP-6004 in Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2B/R2 (LGMD2B/R2, Dysferlin [DYSF] Related)
The primary purpose of this study is to evaluate the safety of SRP-6004 administered by intravenous (IV) infusion in ambulatory participants with LGMD2B/R2 (DYSF related).
- Trial name
- NCT05906251
- Testing
- SRP-6004
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Sarepta Therapeutics, Inc.
Gestational Diabetes, Pregnancy Complications
OneinSeven Gestational Diabetes Genetic and Socioeconomic Risk Study
The objective of the Gestational Diabetes Genetic Socioeconomic Risk Study is to generate genome wide association study data (GWAS) to calculate polygenic risk scores (PRS) for the development of gestational diabetes in pregnant…
- Conditions
- Gestational Diabetes, Pregnancy Complications, Pregnancy Related, Genetic Predisposition
- Trial name
- NCT04789473
- Testing
- Polygenic Risk Score Generation
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Prenome
Gut Microbiome, Gastrointestinal Microbiome
A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Disease
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records.
- Conditions
- Gut Microbiome, Gastrointestinal Microbiome, Autism, Autism Spectrum Disorder
- Trial name
- NCT04031469
- Testing
- There is no intervention in this study
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- ProgenaBiome
LMNA-Related Dilated Cardiomyopathy
A Study With NVC-001 in Patients With LMNA-related Dilated Cardiomyopathy (SUNBEAM-LMNA)
This study is designed to evaluate the safety and tolerability of NVC-001 in adults with LMNA-related dilated cardiomyopathy (LMNA-DCM). The study will also assess exploratory measures of efficacy.
- Trial name
- NCT07606274
- Testing
- NVC-001 - Low Dose, NVC-001 - Intermediate Dose, NVC-001 - High Dose
- Where
- 8 sites in United States
- Volunteers
- 21 people
- Sponsor
- Nuevocor Pte. Ltd.
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Pulmonary Disease, Chronic Obstructive, Emphysema
Examining the Genetic Factors That May Cause Chronic Obstructive Pulmonary Disease (COPD)
Chronic obstructive pulmonary disease (COPD) is a long-term lung disease that is often caused by cigarette smoking. The purpose of this study is to evaluate whether certain genetic factors predispose some smokers to develop COPD…
- Conditions
- Pulmonary Disease, Chronic Obstructive, Emphysema, Bronchitis, Chronic
- Trial name
- COPDGene (NCT00608764)
- Where
- 20 sites in United States
- Volunteers
- 10,718 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Retinitis Pigmentosa
Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial
Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment.
- Trial name
- NCT02759952
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- STZ eyetrial
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome
Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)
This is an open label, Phase 1/2 study of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA)-related Overgrowth…
- Trial name
- MOSAIC (NCT03094832)
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 2 more
- Volunteers
- 50 people
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis
Cardiac Magnetic Resonance and Echocardiography Study With Acoramidis
The study aims to evaluate the effect of acoramidis on cardiac functional and structural improvement in participants with ATTR-CM.
- Conditions
- Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis
- Trial name
- ASCEND-ATTR (NCT07695701)
- Testing
- Acoramidis (AG10) oral tablet
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company