Clinical trials: Genetic Conditions
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Cardiac Arrhythmia, Cardiomyopathy, Dilated
The Rhytmia System to Determine the Precise Location and Potential Mechanism of Premature Contractions
This is a purely observational project and the objectives are to record and analyze the local potentials at the site of Premature Ventricular Contraction (VPC) focus through the Rhythmia system, ti determine the short and…
- Trial name
- RhytmiaPVC (NCT03460535)
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Toulouse
Bipolar Disorder
Effect of Esterogen Receptor Modulator on Gene in Bipolar Diseas
1. Identify randomized controlled trials of tamoxifen (Estrogen Receptor modulator) in in addition to traditional treatment of bipolar disorder and synthesize the results using meta-analysis. 2.
- Trial name
- NCT06580535
- Testing
- blood sample
- Volunteers
- 100 people
- Sponsor
- Assiut University
Acute Lymphoblastic Leukemia (ALL)
Genetic Study of Familial Acute Lymphoblastic Leukemia
Familial aggregation is well recognized in some cancers. Though a number of familial cancer predisposition syndromes have been described, the nature of inherited genetic alterations in patients with a strong history of familial…
- Trial name
- NCT03067584
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Lactose Intolerance
Lactobreath: A Study to Diagnose Lactose Intolerance Using Breath Markers
Food intolerances affect many people and can cause discomfort and dietary challenges. One common cause is difficulty digesting certain carbohydrates called FODMAPs.
- Trial name
- Lactobreath (NCT06177938)
- Testing
- Lactose solution/Glucose solution
- Where
- Switzerland
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- ETH Zurich
Hippel-Lindau Disease
EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome
This study will test the ability of the experimental drug EYE001 to reduce retinal thickening and improve vision in patients with Von Hippel-Lindau syndrome (VHL).
- Trial name
- NCT00056199
- Testing
- EYE001
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Nutrition, Metabolic Syndrome
Impact of Genetic Polymorphisms And DASH Diet On Weight Loss Progression In Climacteric Women With Metabolic Syndrome
Metabolic syndrome is a multifactorial inflammatory condition that is very prevalent in overweight women with type 2 diabetes. However, there seems to be great benefit in changing lifestyle and dietary patterns in the treatment…
- Conditions
- Nutrition, Metabolic Syndrome, Obesity, Weight Loss
- Trial name
- NCT06978504
- Testing
- DASH diet
- Where
- Brazil
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Nutrindo Ideais Research Center
HIV Infections
Biomarkers of Insomnia and Fatigue in HIV/AIDS (Symptoms and Genetics Study)
The purpose of this study is to identify biological markers, including genes, associated with sleep disturbance and other symptoms among people with HIV.
- Trial name
- SAG (NCT00503633)
- Where
- United States
- Volunteers
- 350 people
- Sponsor
- University of California, San Francisco
Gastric Cancer
Genomic and Dietary Aspects in Gastric Cancer Risk
Gastric Cancer (GC) ranks fourth in the number of deaths worldwide and it is sixth in Italy with almost 9,000 deaths in 2020. Survival of GC is one of the lowest reported amongst major cancers, thus making prevention a central…
- Trial name
- GenoStoP (NCT05934058)
- Where
- Italy
- Volunteers
- 383,980 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Arrhythmia, Cardiovascular Diseases
Diagnostic Investigation of Sudden Cardiac Event Risk
The overall objective of the DISCERN study is to develop and validate a genomic diagnostic assay to identify patients at increased risk for lethal ventricular arrhythmias and sudden cardiac death (SCD).
- Conditions
- Arrhythmia, Cardiovascular Diseases, Heart Failure, CVD
- Trial name
- DISCERN (NCT00500708)
- Where
- 8 sites in United States
- Volunteers
- 1,564 people
- Sponsor
- CardioDx
Huntington Disease, Chorea
Atomoxetine and Huntington's Disease
The purpose of this research study is to evaluate the effect of atomoxetine (also known as Strattera) compared to placebo (inactive substance) on daily activities such as attention and focus, thinking ability and muscle movements…
- Trial name
- NCT00368849
- Testing
- atomoxetine
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Iowa
Xeroderma Pigmentosum
A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum C and V
The CUV152 study will evaluate the safety of afamelanotide in XP-C and XP-V patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin.
- Trial name
- NCT05370235
- Testing
- Afamelanotide
- Where
- 2 sites in Belgium, Spain
- Volunteers
- 6 people
- Sponsor
- Clinuvel Europe Limited
Scoliosis, Kyphosis
Postoperative and Chronic Pain Genetic Spine and Pectus Surgery Study
This will be an open label, prospective study to determine the association between specific genotypes, epigenetics and behavioral factors, with the phenotypes, defined by pain perception, postoperative pain, analgesic and side…
- Conditions
- Scoliosis, Kyphosis, Kyphoscoliosis, Pectus Excavatum
- Trial name
- NCT02998138
- Where
- 5 sites in United States
- Volunteers
- 880 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Muscular Dystrophy, Facioscapulohumeral
Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy
OBJECTIVES: I. Determine whether albuterol increases strength in patients with facioscapulohumeral dystrophy as measured by quantitative voluntary isometric contraction testing. II.
- Trial name
- NCT00004685
- Testing
- albuterol
- Volunteers
- 90 people
- Sponsor
- Ohio State University
Arrhythmia, Sudden Cardiac Death
Electrophysiological Phenotyping Of Patients at Risk of Ventricular Arrhythmia and Sudden Cardiac Death
Obesity, rheumatoid arthritis (RA) and gene-specific dilated cardiomyopathy (DCM) are common medical conditions. Small-scale studies have shown that these are associated with proarrhythmic changes on 12-lead electrocardiogram…
- Conditions
- Arrhythmia, Sudden Cardiac Death, Cardiomyopathy, Dilated, Obesity
- Trial name
- EPORVA (NCT03910725)
- Testing
- Electrocardiographic imaging
- Where
- 2 sites in United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Cannabis Use, Neurocognitive Dysfunction
Prospective Evaluation on Cognitive Function and Its Associated Genetic Vulnerability in Cannabis Users
Most of the studies assessing Cannabis Use Disorder (CUD) and neurocognitive functions are cross-sectional without examining the longitudinal changes in neurocognitive function at a within-subject level with respect to the…
- Conditions
- Cannabis Use, Neurocognitive Dysfunction, Genetic Predisposition
- Trial name
- SToP-C_PeCoG (NCT04373525)
- Testing
- Genome analysis
- Where
- Hong Kong
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Quality of Life (QOL), Patient-Reported Outcome Measures (PROMs)
Validation of the EQ-5D-Y-3L and EQ-5D-Y-5L for Paediatric Patients in China
The goal of this observational study is to validate the EQ-5D-Y-3L and EQ-5D-Y-5L in measuring health-related quality of life (HRQoL) for paediatric patients with different health conditions in China.
- Conditions
- Quality of Life (QOL), Patient-Reported Outcome Measures (PROMs), Pneumonia Childhood, Neuroblastoma (NB)
- Trial name
- NCT06873672
- Where
- China
- Volunteers
- 360 people
- Sponsor
- RenJi Hospital
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Observational Prospective Study on Patients Treated With Norditropin®
This observational study is conducted globally. The aim of the study is to investigate the effectiveness and safety of real-life treatment with Norditropin®.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Adult Growth Hormone Deficiency, Genetic Disorder
- Trial name
- NCT00960128
- Testing
- somatropin
- Where
- 23 sites in Argentina, Belgium and 21 more
- Volunteers
- 21,249 people
- Sponsor
- Novo Nordisk A/S
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