Clinical trials: Hereditary Disease
End Stage Renal Disease
Blood Flow Conditions and Sounds in AVFs
This is a prospective non-pharmacological interventional study aimed at investigating the relationship between the blood flow condition and the arteriovenous fistula (AVF) sound, with the ultimate aim of predicting the AVF…
- Trial name
- APOLLO (NCT06411353)
- Testing
- MRI acquisition, US examination
- Where
- Italy
- Volunteers
- 15 people
- Sponsor
- Mario Negri Institute for Pharmacological Research
Obstructive Sleep Apnea, Down Syndrome (Trisomy 21)
Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down Syndrome
Obstructive Sleep Apnea (OSA) is characterised by repetitive collapse of the upper airway during sleep, inducing breathing disturbances that can result in oxygen desaturation and frequent arousals.
- Trial name
- TET21 (NCT07658053)
- Testing
- CURAPROX pacifier use, Pacifier diary, Polysomnography (PSG) to explore OSA
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Hospices Civils de Lyon
Beta Thalassemia Intermedia
Study of SDMB (2,2 Dimethylbutyrate, Sodium Salt) in Beta Thalassemia Intermedia in Thailand
Beta thalassemia intermedia is an inherited blood disease caused by molecular mutations which reduce the beta globin protein chain of adult hemoglobin A, the protein in red blood cells which carries oxygen throughout the body.
- Trial name
- ST20-P2T (NCT01609595)
- Testing
- sodium 2,2 dimethylbutyrate
- Where
- Thailand
- Volunteers
- 10 people
- Sponsor
- Boston University
Multiple Sclerosis, Relapse
Observational Trial Evaluating Elevated Factor VIII Related Labs as a Biomarker for Incomplete Relapse Recovery
Nine Multiple Sclerosis (MS) patients suffering an acute relapse from the outpatient or inpatient settings will be consented to be followed prospectively for three months post relapse, in an effort to identify markers of…
- Trial name
- NCT05926167
- Testing
- blood tests drawn days 1, 8, 22 and 90 of the study
- Volunteers
- 9 people
- Sponsor
- Dignity Health Medical Foundation
Lennox-Gastaut Syndrome
Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study
Background: Lennox-Gastaut syndrome (LGS) is a severe childhood epileptic syndrome with high pharmacoresistance. The treatment outcomes are still unsatisfied.
- Trial name
- NCT02731300
- Testing
- tDCS
- Volunteers
- 22 people
- Sponsor
- Khon Kaen University
Atopic Dermatitis
Evaluation of the Efficacy of Topialyse Baume barrière on Atopic Dermatis
The purpose of this study is to evaluate the efficacy and tolerability of a new SVR care product and to evaluate the reduction of the topical corticosteroids' consumption with this emollient care.
- Trial name
- TOPIA (NCT05006300)
- Testing
- Topialyse Baume Barrière
- Sponsor
- SVR Group
Fetal Hypoxia
Assessment of Cardiac Sparing in Fetal Hypoxia
The fetal heart plays a central role in the adaptive mechanisms for hypoxemia and placental insufficiency. Longitudinal data on the hemodynamic sequence of the natural history of fetal growth restriction show that the umbilical…
- Trial name
- NCT03146507
- Testing
- Ultrasound, Doppler ultrasound, Fetal echocardiography
- Where
- Egypt
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- Assiut University
Sickle Cell Disease, COVID-19
COVID-19 Vaccine Response in Sickle Cell Disease
The purpose of this study is to assess the antibody response to COVID-19 vaccination in a cohort of patients with sickle cell disease (SCD) and to assess vaccine and SCD related complications around the time of vaccination.
- Trial name
- NCT05139992
- Testing
- COVID-19 Vaccine
- Where
- 8 sites in United States
- Volunteers
- 59 people
- Sponsor
- ASH Research Collaborative
Single-ventricle
Association of Near Infrared Spectroscopy With Interstage Outcomes
The purpose of this study is to assess the utility of renal near infrared spectroscopy in the outpatient setting during the interstage period.
- Trial name
- NCT06538571
- Testing
- Near infrared spectroscopy
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Advocate Hospital System
Leukemia
Vaccine Therapy in Treating Patients With Acute Myeloid Leukemia
RATIONALE: Vaccines made from a person's white blood cells and cancer cells may make the body build an effective immune response to kill cancer cells.
- Trial name
- NCT00100971
- Testing
- autologous tumor cell vaccine, therapeutic autologous dendritic cells, tumor cell-derivative vaccine therapy
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Boston Medical Center
Hereditary Diseases, Critical Illness
UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults
The goal of this study is to learn how clinical whole genome sequencing can help identify diagnoses and guide medical care in adults.
- Trial name
- NCT07718971
- Testing
- Genome sequencing
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Washington
Birth Injuries, Pelvic Floor Disorders
Forceps vs Vacuum. Rate of Levator Ani Muscle Avulsion: Clinical Trial.
The main target is to determine levator ani muscle avulsion rate in vacuum delivery, comparing it to forceps delivery. As secondary goals, The aim to evaluate the difference in levator hiatus area among our study groups.
- Conditions
- Birth Injuries, Pelvic Floor Disorders, Instrumental; Injury, Obstetric
- Trial name
- NCT03683264
- Testing
- Ultrasound diagnosis of avulsion of the levator ani muscle
- Where
- Spain
- Volunteers
- 146 people
- Sponsor
- Hospital Universitario de Valme
Sickle Cell Disease and Pregnancy
HEMAGO Monitoring and Impact on the Occurrence of Complications During Pregnancy in Sickle Cell Patients
Sickle cell disease is the most common monosemic genetic disease in the world and affects approximately 32,000 people in France.
- Trial name
- HEMAGO (NCT06620887)
- Testing
- Evaluate the impact of HEMAGO program on maternal morbidity and mortality in sickle cell disease patients during their pregnancies.
- Where
- 3 sites in France
- Volunteers
- 100 people
- Sponsor
- Hospices Civils de Lyon
Wilson's Disease
A Registered Cohort Study on Wilson's Disease
The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of…
- Trial name
- NCT04012658
- Testing
- No intervention
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Thalassemia, Iron Overload
Evaluation of the Quality of Life in Patients With Chronic Iron Overload Due to Hemoglobinopathies in Greece.
This observational clinical study aims to evaluate the HRQoL of thalassemia patients with iron overload in Greece, who are under treatment with deferasirox based on standard clinical practice.
- Trial name
- FEROUSA (NCT07352878)
- Volunteers
- 150 people
- Sponsor
- Elpen Pharmaceutical Co. Inc.
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
Behcet's Syndrome
Psychological Symptoms in Patients With Behcet's Disease by SCL90-R
To find the overall psychological profile of patients with Behcet's Disease (BD) and compare it with Non-BD patients.patients were checked for psychological symptoms by Symptom Check List 90 Revised (SCL90-R)
- Trial name
- SCL90-R (NCT00699985)
- Where
- Iran
- Volunteers
- 400 people
- Sponsor
- Tehran University of Medical Sciences
Myotonic Dystrophy 1, DM1
The Spanish National Registry for Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents.
- Conditions
- Myotonic Dystrophy 1, DM1, Myotonic Dystrophy Type 1, Myotonic Dystrophy, Congenital
- Trial name
- DM1-Hub (NCT07385443)
- Testing
- Patient Registry
- Where
- 8 sites in Spain
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Fundació Institut Germans Trias i Pujol
Down Syndrome, Trisomy 21
JASPER Intervention in Down Syndrome
The goal of this study is to determine whether JASPER (Joint Attention, Symbolic Play, Engagement, Regulation), which is an intensive, targeted early behavioral intervention focused on a developmentally based approach for…
- Trial name
- NCT03653143
- Testing
- JASPER
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Bundle-Branch Block, Heart Septal Defects, Ventricular
Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect
The most common congenital heart disease is the ventricular septal defect, and after surgical closure of a such defect, an arrythmia called the right bundle branch block, is very frequent.
- Trial name
- NCT01480908
- Testing
- Echocardiography at rest, Echocardiography during exercise, MRI at rest
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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