Clinical trials: Genetic Disorder
Breast Carcinoma, Male Breast Carcinoma
Access to Genetic Testing in Underserved Patients With Cancer
This study compares the experiences of people who receive information about genetic testing from a computer-generated character to patients who receive information from a human genetics healthcare provider.
- Conditions
- Breast Carcinoma, Male Breast Carcinoma, Malignant Solid Neoplasm, Metastatic Prostate Carcinoma
- Trial name
- NCT06422455
- Testing
- Best Practice, Educational Intervention, Electronic Health Record Review
- Where
- 2 sites in United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Genetic Health Risks
A Prospective, Monocentric Clinical Study for the Validation of in Vitro Diagnostic Tests Developed by Firalis
Firalis SA and its affiliate Amoneta Diagnostics SAS are developing novel in-vitro-diagnostic (IVD) tests for diverse diagnostic applications for major human diseases, including cardiovascular, and neurodegenerative disorders.
- Trial name
- ApoDiag (NCT06432192)
- Testing
- APO-Easy
- Where
- 2 sites in France
- Volunteers
- 1,474 people, healthy volunteers welcome
- Sponsor
- Firalis SA
Atopic Dermatitis, Type 1 Hypersensitivity
Allergic Disease Onset Prevention Study
This is a Phase 1b/2, randomized, double-blind, multi-center study to evaluate the safety, tolerability, and preliminary clinical efficacy of STMC-103H in neonates and infants at risk for developing allergic disease (Type 1…
- Trial name
- adored (NCT05003804)
- Testing
- STMC-103H
- Where
- 31 sites in United States, Australia and 1 more
- Volunteers
- 283 people, healthy volunteers welcome
- Sponsor
- Siolta Therapeutics, Inc.
Diabetes Mellitus, Healthy
Genetic Influence on Susceptibility to Type 1 Diabetes Mellitus
Type 1 diabetes mellitus is an autoimmune disease in which the body's immune cells attack the insulin-producing cells of the pancreas.
- Trial name
- NCT00001985
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Fabry's Disease
Analysis of the Nervous System in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Trial name
- NCT00001491
- Where
- United States
- Volunteers
- 325 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Mitochondrial Diseases, Developmental Delay Disorder
Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurodevelopmental Disorders
Background: Small-Fiber-Neuropathy describes the degeneration of mildly or unmyelinated nerve fibers and causes neuropathic pain and autonomic dysfunction.
- Conditions
- Mitochondrial Diseases, Developmental Delay Disorder, Small Fiber Neuropathy, Cerebral Palsy
- Trial name
- SFN_children (NCT05645874)
- Testing
- Skin biopsy
- Where
- Germany
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf
Sickle Cell Disease, Sickle Cell Anemia
Microvascular Blood Flow in Sickle Cell Anemia
Sickle cell disease (SCD) is an inherited blood disorder that causes the red blood cells to change their shape from a round shape to a half-moon/crescent or sickled shape.
- Trial name
- NCT01566890
- Testing
- regadenoson infusion with contrast-enhanced ultrasound, contrast-enhanced ultrasound
- Where
- 2 sites in United States
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Versiti Blood Health
Fabry Disease
Lipidomics and Functional Analyses of Platelets in Fabry Disease
This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events.
- Trial name
- NCT02649660
- Where
- 2 sites in Switzerland
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Spital Linth
Fed
Bioequivalence Study of Lisinopril and Hydrochlorothiazide Tablets (20+25) mg Under Fed Conditions
This is a randomized, open Label, balanced, two-treatment, two-period, two-sequence, single dose, cross over pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01827878
- Testing
- Lisinopril and Hydrochlorothiazide Tablets (20+25) mg, Zestoretic® 20/25 lisinopril/hydrochlorothiazide Tablets
- Where
- India
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Healthy Lifestyle, Obese
Project 1: Diet and Exercise Modulate the Sperm Epigenome in Men
This is a rigorous, controlled clinical trial designed to show that diet, exercise training, and their combination in overweight, inactive men will alter epigenetic programming to create a "healthy" sperm epigenome.
- Conditions
- Healthy Lifestyle, Obese, Men
- Trial name
- NCT04175678
- Testing
- Diet, Exercise, Standard care
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Embryo Aneuploidies
Embryo Aneuploidies and Ovarian Stimulation
There is a considerable concern about the effects of controlled ovarian hyperstimulation (COH) for In Vitro Fertilization- Embryo Transfer (IVF-ET) on embryo quality and on the incidence of chromosomal abnormalities in oocytes…
- Trial name
- NCT00707525
- Testing
- Preimplantation Genetic Diagnosis
- Where
- Spain
- Volunteers
- healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI VALENCIA
Sickle Cell Disease, Anemia
SCD-PROMIS: A Software Platform to Enhance Self-efficacy and Patient-provider Engagement for Patients With Sickle Cell Pain
The overall goal of the project is to reduce pain-related, 30-day readmission rates for sickle cell disease (SCD) patients. The investigators want to see if a mobile phone application (app) can help decrease the need for repeat…
- Conditions
- Sickle Cell Disease, Anemia, Anemia, Hemolytic, Anemia, Sickle Cell
- Trial name
- NCT03006718
- Testing
- PROMIS for Pain Management App
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Julia Finkel
Multiple Myeloma
BCMA Polymorphisms in Patients With Multiple Myeloma
The aim of this study is to investigate the effect of B cell maturation antigen (BCMA, TNFRSF17) gene polymorphisms on treatment response and survival in patients with multiple myeloma.
- Trial name
- BCMA in MM (NCT07906418)
- Testing
- BCMA polymorphism analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Başakşehir Çam & Sakura City Hospital
Resistance, APC
Effect of Resistance Training in Water Combined With Land on Starting and Turning ,12-weeks Resistance Training
Resistance training has been widely used in various sports and is a common practice aimed at improving competition performance, especially in swimming.
- Trial name
- NCT05051826
- Testing
- Resistance training that combines water and land
- Where
- China
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Universiti Putra Malaysia
Sickle Cell Disease, Pain
Integrative Medicine in Pain Management in Sickle Cell Disease, 2.0
The proposed research is to determine the clinical efficacy and neurobiological mechanisms of acupuncture analgesia in patients with sickle cell disease.
- Conditions
- Sickle Cell Disease, Pain, Acupuncture, Quantitative Sensory Testing
- Trial name
- NCT06725550
- Testing
- needling acupuncture, laser acupuncture
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Cincinnati
Parkinson's Disease, Gaucher's Disease
Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease
The investigators are interested in determining if the investigators are able to detect changes in brain chemistry using Magnetic Resonance Spectroscopy (MRS) in individuals with Parkinson's disease (PD), those with Gaucher's…
- Trial name
- NCT01427517
- Testing
- N-acetylcysteine
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Virus
Genetic Determinants of the Antiviral Immune Response in Oceanian Populations
Oceania's populations, including Melanesians, are paying a heavy price for dengue fever, which has been circulating actively in the region since the Second World War.
- Trial name
- GEDIPOP (NCT06432855)
- Testing
- Blood collection, saliva collection
- Where
- New Caledonia
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- Institut Pasteur
Congenital Adrenal Hyperplasia
Qualitative Research on Women With Congenital Adrenal Hyperplasia
This qualitative interview-based study will investigate the impact that living with congenital adrenal hyperplasia has for women in the following areas: health-related quality of life (HRQL), psychological health, and…
- Trial name
- CAH (NCT00559078)
- Testing
- Interview
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Lehigh University
Chronic Traumatic Encephalopathy
The DIAGNOSE-CTE Research Project
This is a study to develop methods of diagnosing chronic traumatic encephalopathy (CTE) during life, as well as to examine possible risk factors for this neurodegenerative disease.
- Trial name
- DIAGNOSE-CTE (NCT02798185)
- Where
- United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Boston University
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
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