Clinical trials: Genetics Disease
Thalassemia in Children, Pulmonary Hypertension
Erythrocyte Glutamine Level Relation to Pulmonary Hypertension Risk in Beta Thalassemia Major Children
The study will investigate the relation between erythrocyte glutamine/glutamate ratio and pulmonary hypertension risk in Egyptian thalassemic children in Assiut University Children Hospital
- Conditions
- Thalassemia in Children, Pulmonary Hypertension, Hemolysis
- Trial name
- NCT03133169
- Testing
- blood sample, Tricuspid regurge velocity
- Where
- Egypt
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assiut University
Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia
Phase 1, Open-label, Drug-drug Interaction Study to Assess Effect Between Radiprodil and the Co-administered Drugs.
This is a Phase 1, open-label, 3-period study to determine radiprodil's potential to act as a perpetrator of cytochrome P-450 (CYP) metabolic pathways and transporter pathways.
- Conditions
- Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia, Other Neurological Disorders
- Trial name
- NCT06975605
- Testing
- Radiprodil + co-administered drugs
- Where
- Australia
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- GRIN Therapeutics, Inc.
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Autism Spectrum Disorder (ASD), Neurodevelopmental Disorders
Multi-observational Study for the Early Identification of Autism Spectrum Disorder (ASD) and Other Neurodevelopmental Disorders (NDD) in At-risk Populations
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects about 78 million people worldwide. Its prevalence and degree of impact on individuals and families place it among disorders of global importance.
- Trial name
- BABY@NET (NCT06915805)
- Where
- 5 sites in Italy
- Volunteers
- 455 people, healthy volunteers welcome
- Sponsor
- Istituto Superiore di Sanità
Neurofibromatosis Type 1
Reliability of Functional Outcome Measures in Neurofibromatosis 1: Test- Retest
To examine the test-retest reliability (how stable the results are when the same participants, whose symptoms have remained stable, are assessed on 2 different occasions, 14 days apart) of the 10 meter walk test, the timed up and…
- Trial name
- NCT05186870
- Testing
- Outcome measures
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Guy's and St Thomas' NHS Foundation Trust
Turner's Syndrome
Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome.
- Trial name
- NCT00004274
- Testing
- Estrogen
- Where
- United States
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Cardiac Event, Klinefelter Syndrome
TyG Index Levels in Klinefelter Syndrome
It is well known that the frequency of cardiometabolic diseases are increased in patients with Klinefelter Syndrome. The triglyceride-glucose index (TyG index) is a simple surrogate marker of insulin resistance and is also…
- Conditions
- Cardiac Event, Klinefelter Syndrome, Endothelial Dysfunction
- Trial name
- NCT05014997
- Testing
- no intervention
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Gulhane School of Medicine
Congenital Diaphragmatic Hernia
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of…
- Trial name
- DHREAMS (NCT00950118)
- Where
- 14 sites in United States, Egypt
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
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
Down Syndrome
Resilience Training Intervention: Its Effect on Parental Acceptance/Rejection and Burden of Children With Down Syndrome
This research will test whether a resilience training program can help parents of children with Down syndrome feel more accepting of their child and experience less caregiving burden.
- Trial name
- NCT07306923
- Testing
- resilience training intervention
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Idiopathic Pulmonary Fibrosis
Assess the Safety, Tolerability and Pharmacokinetics of AZD5055 Following Single and Multiple Ascending Doses in Healthy Participants
This is a phase I, First-in-Human study in healthy participants, performed at a single study center, consisting of 2 parts: Part 1 is a single ascending dose (SAD) study and Part 2 is a multiple ascending dose (MAD) study.
- Trial name
- NCT05134727
- Testing
- AZD5055
- Where
- United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- AstraZeneca
Charcot-Marie-Tooth Disease, Type Ia (Disorder), HMSN
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
- Trial name
- INC-6602 (NCT01193088)
- Where
- 24 sites in United States, Australia and 4 more
- Volunteers
- 1,050 people, healthy volunteers welcome
- Sponsor
- University of Iowa
Retinoblastoma, Cancer Survivor
Studying Health Outcomes After Treatment in Patients With Retinoblastoma
This trial studies health outcomes after treatment in patients with retinoblastoma. Gathering health information over time from patients and family members through vision assessments, samples of tissue and saliva, and…
- Conditions
- Retinoblastoma, Cancer Survivor, Biological Sibling, Intraocular Retinoblastoma
- Trial name
- RIVERBOAT (NCT03932786)
- Testing
- Biospecimen collection, Vision assessment, Questionnaire administration
- Where
- 11 sites in United States, Canada
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Vanderbilt-Ingram Cancer Center
Muscular Dystrophy, Peripheral Neuropathy
Investigational Use of Neuromuscular Ultrasound
Background: Current techniques used to measure the health and function of a person s nerves and muscles are generally effective, but they do have limits.
- Conditions
- Muscular Dystrophy, Peripheral Neuropathy, Motor Neuron Disorder, Normal Physiology
- Trial name
- NCT05237973
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Infectious Disease
Genetic Susceptibility to Severe Infections
Only a fraction of individuals infected with microbes develop clinical disease. This observation raises fundamental questions about the pathogenesis of infectious diseases.
- Trial name
- PREDISPOSITI (NCT06102070)
- Testing
- Blood samples drawing, Skin biopsy
- Where
- France
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hyperlipoproteinemia Type II
FH Detection in Children by Salivary Test
Familial Hypercholesterolemia is a common cause of premature coronary heart disease, it is present in 1 per 500 to 1 per 250 people of the general population.
- Trial name
- DEPEDIACOL (NCT04261803)
- Testing
- salivary sample, blood test
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Late Onset Pompe Disease, Pompe Disease
Search for Serum/Plasma Biomarkers in Pompe's Disease
This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease.
- Trial name
- BIOPOMPE (NCT03045042)
- Testing
- Enzyme Replacement Agent
- Where
- Spain
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Heart Attack
The Role of Genetic Factors in the Development of Myocardial Infarction in the Kazakh Population
This is a GWAS study that aims to identify possible candidate genes associate to heart attack by exploring single nucleotide polymorphism (SNP) in a group of heart attack, in the Kazakh population.
- Trial name
- NCT05090618
- Testing
- DNA analysis
- Where
- Kazakhstan
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Asfendiyarov Kazakh National Medical University
Huntington Disease
31P-MRS and Huntington Disease
The purpose of this study is to identify and quantify a brain energy deficit in Huntington patients, using 31P-RMN spectroscopy.
- Trial name
- PRO-MH (NCT01359774)
- Testing
- 31P-MR spectroscopy, 31P-RMN spectroscopy
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Genetic Predisposition to Disease
AHC Ballana Heart Study
This Study is designed to assess CVD incidence, prevalence, progression and related risk factors, including genetic background. It will provide an important base for all cardiovascular research activities in our centre and help…
- Trial name
- AHC-BHS (NCT05661318)
- Testing
- Risk assessment
- Where
- Egypt
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Magdi Yacoub Heart Foundation
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