Clinical trials: Congenital Diseases
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Genetic Disease, Genetic Syndrome
Ensuring Patients' Informed Access to Noninvasive Prenatal Testing
Noninvasive prenatal genetic testing (NIPT) is an important new screening test option provided to pregnant women in the first trimester of pregnancy.
- Conditions
- Genetic Disease, Genetic Syndrome, Prenatal Disorder, Prenatal Maternal Abnormality
- Trial name
- NEST (NCT03420274)
- Testing
- NEST, Usual care
- Where
- 2 sites in United States
- Volunteers
- 691 people
- Sponsor
- The Cleveland Clinic
Duchenne Muscular Dystrophy (DMD)
The Effect of Dual-tasking Program on Cognitive and Physical Functions and Independence in Activities of Daily Living in Children With Duchenne Muscular Dystrophy: A Single-blind Randomized Controlled Trial
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscle degeneration and frequent developmental, cognitive and behavioral impairments, occurring in one in 5000 live births of boys.
- Trial name
- DMD-DUAL-FUNC (NCT06887491)
- Testing
- Conventional physiotherapy program, Conventional physiotherapy program + Dual task program
- Where
- Turkey (Türkiye)
- Volunteers
- 16 people
- Sponsor
- Lokman Hekim University
Patients Who Underwent Surgery for Congenital Heart Disease
Influence of Tidal Volume During Mechanical Ventilation on Postoperative Clinical Outcome in Pediatric Patients Undergoing Congenital Heart Surgery
High tidal volume during mechanical ventilation has been reported to increase mortality in patients with acute lung injury or acute respiratory distress syndrome.
- Trial name
- NCT02081274
- Testing
- Surgery for congenital heart disease
- Where
- South Korea
- Volunteers
- 1,000 people
- Sponsor
- Samsung Medical Center
Incisional Hernia, Umbilical Hernia
Laparoscopic or Conventional Mesh Repair of Incisional and Umbilical Hernia
The aim of this study is to compare immediate and long-term (24 months) results of laparoscopic and open mesh repair of incisional and umbilical hernia.
- Trial name
- EVENTRALAP (NCT00970515)
- Testing
- Laparoscopic mesh hernia repair, Open anterior approach
- Where
- France
- Volunteers
- 98 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Eisenmenger Syndrome, Congenital Heart Disease
Sleep-disordered Breathing in Eisenmenger Syndrome
Sleep-disordered breathing (SDB) is a wellknown comorbidity in cardiovascular disease. Knowledge about SDB in adult congenital heart disease is limited.
- Conditions
- Eisenmenger Syndrome, Congenital Heart Disease, Sleep-disordered Breathing
- Trial name
- NCT02614417
- Testing
- Polysomnography
- Volunteers
- 20 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Gaucher Disease
A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease
Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD) leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the…
- Trial name
- NCT00376168
- Testing
- Plant cell expressed recombinant glucocerebrosidase (prGCD)
- Where
- 11 sites in United States, Canada and 6 more
- Volunteers
- 32 people
- Sponsor
- Pfizer
Burns
Determination of Nerve Growth Factor (NGF) Expression in Pediatric Patients With Severe Burns: a Pilot Study
The goal of this observational study is to determine the blood values of NGF in severely burned patients, to describe any changes over time and finally to correlate the expression of NGF to the severity of the burn.
- Trial name
- NCT05751174
- Testing
- pediatric patients affected by severe burns
- Where
- Italy
- Volunteers
- 12 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Arteriovenous Fistula, Dialysis Access Malfunction
Intervention With Selution SLR™ Agent Balloon for Endovascular Latent Limus Therapy for Failing AV Fistulas (ISABELLA) Trial
The most common problem with haemodialysis arteriovenous fistulas (AVF) and arterio-venous grafts (AVG) is stenosis, which can lead to inadequate dialysis, and eventual access thrombosis.
- Trial name
- ISABELLA (NCT04629118)
- Testing
- Selution SLR™ 018 Drug Eluting Balloon
- Where
- Singapore
- Volunteers
- 40 people
- Sponsor
- Singapore General Hospital
Incontinence, Bladder Dysfunction
Bladder Neck Surgery in Children with Neurogenic Bladder
Surgical outcomes of bladder neck surgery in children with neurogenic bladder. Consequences on bladder voiding.
- Conditions
- Incontinence, Bladder Dysfunction, Spina Bifida, Neurogenic Bladder Disorder
- Trial name
- CERPED (NCT06734390)
- Testing
- Bladder Neck Surgery
- Where
- France
- Volunteers
- 46 people
- Sponsor
- University Hospital, Clermont-Ferrand
Inflammatory Myopathy, Duchenne Muscular Dystrophy
Quantitative Muscle Ultrasound as a Marker of Progression in Children With Muscular Diseases
The aim of our study is to Assess skeletal muscle structural status in children with inflammatory myositis and Duchenne muscular dystrophy using musculoskeletal ultrasound and to perform a longitudinal follow up of these changes…
- Trial name
- NCT03786913
- Testing
- Quantitative muscle ultrasound measurements
- Where
- Egypt
- Volunteers
- 48 people
- Sponsor
- Benha University
Atopic Dermatitis
DMT210 Topical Gel in the Treatment of Atopic Dermatitis
The objective of the study is to evaluate the safety and efficacy of DMT210 Gel, 5% compared to vehicle control following 28 days of twice-daily topical application to selected target lesions in male and female patients with mild…
- Trial name
- NCT02949960
- Testing
- DMT210 Topical Gel, Vehicle Control
- Where
- 2 sites in United States
- Volunteers
- 19 people
- Sponsor
- Dermata Therapeutics
Cystic Fibrosis
Evaluation of the Timing of the Nebulization Related to the Physiotherapy Session
The purpose of this study is to determine the optimal time for the nebulization depending on the respiratory physiotherapy session in cystic fibrosis patients.
- Trial name
- NCT02201082
- Testing
- Airway clearance technique, Amikacin nebulization
- Where
- Belgium
- Volunteers
- 15 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Hereditary Angioedema, Hereditary Angioedema Type I
Study of Oral Deucrictibant Soft Capsule for On-Demand Treatment of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema
This is a Phase 3, multicenter, randomized, double-blind, placebo-controlled, 2-period, 2-treatment cross-over study to evaluate the efficacy and safety of orally administered deucrictibant compared to placebo for the on-demand…
- Conditions
- Hereditary Angioedema, Hereditary Angioedema Type I, Hereditary Angioedema Type II, Hereditary Angioedema Types I and II
- Trial name
- RAPIDe-3 (NCT06343779)
- Where
- 76 sites in United States, Argentina and 27 more
- Volunteers
- 134 people
- Sponsor
- Pharvaris Netherlands B.V.
Newborn, Umbilical Cord
Immediate VS Delayed Cord Clamping on Newborns
The best time of the umbilical cord clamping has not been fully understood. immediate cord clamping (with in 10 seconds after birth) has been standardized practice for many years, while WHO protocol recommends to wait for 60-90…
- Trial name
- NCT01029496
- Testing
- different time of umbilical cord clamping
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Hainan Medical College
Larynx Stenosis, Larynx Disease
Laryngeal Allograft Transplantation
The purpose of this proposed study is to obtain safety and efficacy data on human laryngeal allograft transplantation in an effort to safely use these procedures as a viable reconstructive option for patients with severe…
- Conditions
- Larynx Stenosis, Larynx Disease, Laryngectomy, Larynx
- Trial name
- NCT03269396
- Testing
- Larynx Allograft Transplantation
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Mayo Clinic
Pulmonary Hypertension, Sickle Cell Anemia
Secondary Pulmonary Hypertension in Adults With Sickle Cell Anemia
The purpose of this study is to determine how often people with sickle cell anemia develop pulmonary hypertension a serious disease in which blood pressure in the artery to the lungs is elevated.
- Conditions
- Pulmonary Hypertension, Sickle Cell Anemia, Sickle Cell Disease
- Trial name
- NCT00011648
- Where
- 2 sites in United States
- Volunteers
- 986 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Jaundice, Neonatal
Understanding Neonatal Jaundice in Rwanda
This study exploits the distribution of low-cost high-quality phototherapy devices (Brilliance by D-Rev) to public hospitals in Rwanda to assess whether the provision of improved technology improves health care for infant…
- Trial name
- NCT03184948
- Testing
- Brilliance
- Where
- Rwanda
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- University of California, Merced
Recurrent Head and Neck Squamous Cell Carcinoma, Metastatic Head and Neck Squamous Cell Carcinoma
A Phase Ib/II Study of BYL719 and Cetuximab in Recurrent or Metastatic Head and Neck Squamous Cell Carcinoma
This was a multi-center, open-label, Phase Ib dose escalation /Phase II study in recurrent or metastatic head and neck squamous cell carcinoma (RM HNSCC) patients considered to be resistant, ineligible or intolerant to…
- Trial name
- NCT01602315
- Testing
- BYL719 as film-coated (FC) whole tablets, BYL719 as dispersible tablets (DT), cetuximab
- Where
- 29 sites in United States, Australia and 7 more
- Volunteers
- 179 people
- Sponsor
- Novartis Pharmaceuticals
Sickle Cell Disease (SCD), Invasive Bacterial Infections
Epidemiology of Invasive Bacterial Infections in Children With Sickle Cell Disease in France Between 2020 and 2025
Children with sickle cell disease are at high risk of invasive bacterial infections, which may lead to serious complications. Preventive measures, including antibiotic prophylaxis and vaccination, have changed the epidemiology of…
- Trial name
- DREPIBAC (NCT07639008)
- Where
- 31 sites in France
- Volunteers
- 350 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.