Clinical trials: Genetic
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
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
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
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
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
Turner's Syndrome
An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG
Children with growth failure due to inadequate secretion of growth hormone or growth retardation due to Turner's syndrome are individually dosed and treated for 12 weeks
- Trial name
- NCT00250250
- Testing
- ZOMACTON
- Where
- 6 sites in Czechia, France and 1 more
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Ferring Pharmaceuticals
Cystic Fibrosis
Clinical Outcomes of Triple Combination Therapy in Severe Cystic Fibrosis Disease.
This is an observational study of people with severe cystic fibrosis that are eligible for Vertex's triple combination therapy through its expanded access.
- Trial name
- NCT04038710
- Testing
- Triple combination therapy
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- National Jewish Health
Sickle Cell Disease
Study to Evaluate the Effect of Voxelotor Administered Orally to Patients With Sickle Cell Disease (GBT_HOPE)
A Phase 3, Double-blind, Randomized, Placebo-controlled, Multicenter Study of Voxelotor Administered Orally to Patients With Sickle Cell Disease
- Trial name
- GBT_HOPE (NCT03036813)
- Testing
- voxelotor
- Where
- 62 sites in United States, Canada and 10 more
- Volunteers
- 449 people
- Sponsor
- Pfizer
Congenital Hearing Loss, Congenital Deafness
Genetic Feature of Congenital Hearing Loss in Chinese Population
Congenital hearing loss, as well as hearing loss present at birth, is one of the most common chronic conditions in children, with a prevalence of permanent bilateral hearing loss of 2.83 per 1000 children of primary school age…
- Trial name
- NCT06365749
- Volunteers
- 50 people
- Sponsor
- Dan Bing
Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant
Biomarkers and Outcome Predictors of Pediatric Nephrotic Syndrome: A Genetic, Transcriptomic, and Secretome Multiomics Study
Idiopathic Nephrotic Syndrome is a rare disease of the kidneys, which typically affects children. For most affected children there is the need of a prolonged treatment with drugs reducing the activity of the immune system, also…
- Conditions
- Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant, Nephrotic Syndrome in Children, Glomerulonephritis
- Trial name
- PRECISE (NCT06792448)
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Sickle Cell Disease
Long-term Follow-up of Subjects with Sickle Cell Disease Treated with Ex Vivo Gene Therapy
This is a multi-center, long-term safety and efficacy follow-up study for subjects with sickle cell disease who have been treated with ex vivo gene therapy drug product in bluebird bio-sponsored clinical studies.
- Trial name
- NCT04628585
- Testing
- Safety and efficacy assessments
- Where
- 16 sites in United States, France
- Volunteers
- 85 people
- Sponsor
- Genetix Biotherapeutics Inc.
Retinal Hemangioblastoma, Von Hippel-Lindau Disease
Retrospective Case Series of Trans-scleral Cryotherapy for Retinal Hemangioblastoma
Background: Retinal hemangioblastoma (RH) is a tumor. It grows from the retina in the eye. It can threaten a person s vision. Trans-scleral cryotherapy is used to destroy the tumors and minimize the long-term risks of vision…
- Trial name
- NCT04458935
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Eye Institute (NEI)
Cardiovascular Diseases, Heart Diseases
Genetic Epidemiology of Lipoprotein-Lipid Levels
To determine the contribution of polymorphic variation in candidate genes involved in lipid metabolism in determining quantitative lipoprotein-lipid levels and cardiovascular risk factors in Anglo and Hispanic populations of the…
- Conditions
- Cardiovascular Diseases, Heart Diseases, Atherosclerosis
- Trial name
- NCT00005335
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Growth Disorders
Treatment of Children and Adolescents With Growth Failure Associated With Primary IGF-1 Deficiency
This is an extension study to Tercica study MS301 (NCT00125164) and is intended to collect long term safety and efficacy data on the continued use of recombinant human insulin-like growth factor-1 (rh IGF-1) in children and…
- Trial name
- NCT00330668
- Testing
- rh IGF-1 (mecasermin)
- Where
- France
- Volunteers
- 114 people
- Sponsor
- Ipsen
Autosomal Dominant Polycystic Kidney Disease
High Water Intake in Polycystic Kidney Disease
DRINK is an open-label randomised controlled feasibility trial of high versus ad libitum water intake in ADPKD.
- Trial name
- DRINK (NCT02933268)
- Testing
- High water intake, Ad libitum water intake
- Where
- United Kingdom
- Volunteers
- 42 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
Evaluation of Plasma Lipoproteins
Evaluation of Lipoproteins
Lipoproteins are particles that carry fats such as cholesterol and triglycerides through the blood stream. These particles are involved in causing blood vessel disease that can lead to conditions like hardening of the arteries…
- Trial name
- NCT00001168
- Testing
- Balanced diet
- Where
- United States
- Volunteers
- 1,017 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Hereditary Angioedema
Assessment of the State of Health, Quality of Life and Expectations of Patients With Hereditary Angioedema
8 years after the establishment of the therapeutic education program and 14 years after the creation of the National Reference Center for Angioedemas (CREAK), it is necessary to make an inventory in 2021 on the disease…
- Trial name
- BESQAOH (NCT04888650)
- Testing
- questionnaire
- Where
- France
- Volunteers
- 314 people
- Sponsor
- University Hospital, Grenoble
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.