Clinical trials: Congenital Diseases
Amyloidosis, Amyloid
Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis
This study measures circulating, misfolded ATTR oligomers in asymptomatic ATTRm amyloidosis genetic carriers longitudinally over five years.
- Conditions
- Amyloidosis, Amyloid, Amyloid Neuropathies, Familial, Amyloid Cardiomyopathy
- Trial name
- MED-hATTR (NCT03431896)
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- The Cleveland Clinic
Genetic Disease, Genetic Syndrome
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of…
- Trial name
- NCT03458962
- Testing
- Genetic Enrollees
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Malaria
Malaria Studies in Cambodia
This study, conducted by the National Center for Parasitology, Entomology and Malaria Control of Cambodia s Ministry of Health and the National Institute of Allergy and Infectious Diseases, will explore whether the following…
- Trial name
- NCT00663546
- Where
- 3 sites in Cambodia
- Volunteers
- 1,978 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Septate Uterus
New Pre-Surgical Scoring System for Uterine Septum
Comparing surgical outcomes of Hysteroscopic metroplasty for uterine septum when using the standard ESGE or ASRM classifications vs the novel scoring system dubbed Shawki Septum Scoring System.
- Trial name
- NCT05823103
- Testing
- Shawki Septum Scoring System, ESHRE ASRM Classification
- Where
- Egypt
- Volunteers
- 100 people
- Sponsor
- Ebtesama Hospital
Bronchopulmonary Dysplasia, Necrotizing Enterocolitis
Treatment of Classic Mid-trimester PPROM by Means of Continuous Amnioinfusion
Objective: Mid-trimester preterm premature rupture of membranes (PPROM), defined as rupture of fetal mem-branes prior to 28 weeks' gestation (WG), complicates approximately 0.4-0.7% of all pregnancies and associated with very…
- Conditions
- Bronchopulmonary Dysplasia, Necrotizing Enterocolitis, Intracranial Hemorrhages
- Trial name
- AmnionFlush (NCT04696003)
- Testing
- Continuous amnioinfusion with Amnion Flush Solution through the intraamniotic catheter
- Where
- Germany
- Volunteers
- 68 people, healthy volunteers welcome
- Sponsor
- Martin-Luther-Universität Halle-Wittenberg
Urea Cycle Disorder
A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders
This is an open-label study consisting of a transition period to RAVICTI, followed by a safety extension period for at least 6 months and up to 24 months of treatment with RAVICTI, depending on age at enrollment.
- Trial name
- NCT02246218
- Testing
- RAVICTI
- Where
- 17 sites in United States, Canada
- Volunteers
- 27 people
- Sponsor
- Amgen
Neonatal Respiratory Distress Syndrome
The Use of Maternal Serum Unconjugated Estriol for Monitoring the Prevention of Neonatal Respiratory Distress Syndrome
The objective of this project is to evaluate clinical significance of measuring maternal blood estriol levels, after the administration of antenatal corticosteroids to enhance lung maturity.
- Trial name
- NCT02112513
- Where
- 2 sites in United States
- Volunteers
- 160 people
- Sponsor
- Indiana University
Hypophosphatasia
Characteristics of Hypophosphatasia in Adult Patients in Rheumatology and Their Value in Developing an Algorithm to HPP-diagnosis - the COHIR Multi-center Study
Non-interventional, prospective, multi-center investigation with exploratory data analysis to assess the proportion of patients with hypophosphatasia presenting at departments of rheumatology and to establish an algorithm to HPP…
- Trial name
- COHIRnational (NCT06574282)
- Testing
- Second alkaline phosphatase measurement
- Where
- Germany
- Volunteers
- 720 people
- Sponsor
- University of Bonn
Hereditary Hemorrhagic Telangiectasia, Epistaxis
Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) (OMIM 187300 and 600376), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disease and has a prevalence between 1:5000 and 1:8000 in different populations.
- Trial name
- THALI-HHT (NCT01485224)
- Testing
- Thalidomide
- Where
- Italy
- Volunteers
- 31 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Pain Crisis
Natural History of Sickle Cell Disease
This study is not a treatment protocol and no experimental treatments are involved. Study participants may be seen as needed for clinical, translational and basic research studies, or as medically indicated.
- Trial name
- NCT00081523
- Where
- 3 sites in United States
- Volunteers
- 3,500 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Becker Muscular Dystrophy
Open-Label Extension of EDG-5506 in Participants With Becker Muscular Dystrophy
EDG-5506-203 MESA is an open-label extension study to assess the long-term effect of sevasemten (EDG-5506) on safety, biomarkers, and functional measures in adults and adolescents with Becker muscular dystrophy
- Trial name
- MESA (NCT06066580)
- Testing
- Sevasemten
- Where
- 48 sites in United States, Australia and 10 more
- Volunteers
- 260 people
- Sponsor
- Edgewise Therapeutics, Inc.
Clubfoot
Evertor Muscle Activity as a Predictor of Achilles Tenotomy in the Management of Idiopathic Varus Equinus Clubfoot
Clubfoot is an orthopedic congenital malformation of the lower limb of the newborn evaluated by the Dimeglio score. There is a deficit of muscular balance between the agonists and antagonists to the deformity.
- Trial name
- PBVE-Muscle (NCT05767762)
- Testing
- scale Idiopathic Clubfoot
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Fondation Lenval
Breast Cancer
A Study of the Experimental Drug BKM120 With Paclitaxel in Patients With HER2 Negative, Locally Advanced or Metastatic Breast Cancer, With or Without PI3K Activation
This study evaluated whether the addition of daily BKM120 to weekly paclitaxel was effective and safe in treating patients with HER2- locally advanced or metastatic breast cancer.
- Trial name
- BELLE-4 (NCT01572727)
- Testing
- Paclitaxel, BKM120
- Where
- 112 sites in United States, Australia and 20 more
- Volunteers
- 416 people
- Sponsor
- Novartis Pharmaceuticals
Mandibular Deficiency
Mandibular Reconstruction With Axially Vascularised Bone Substitutes
Mandibular reconstruction is necessary following trauma, tumour resections and extensive infections resulting in severe defects of the mandibular arch.
- Trial name
- NCT04001842
- Testing
- Surgical reconstruction of the mandible using an axially vascularized bone construct
- Where
- Egypt
- Volunteers
- 10 people
- Sponsor
- University of Alexandria
Dysarthria, Down Syndrome
Intensive Dysarthria Sessions in Adults and Children With Down Syndrome
This research study is designed to investigate the feasibility and treatment effects of a behavioral speech treatment in adults and children with Down Syndrome (DS) and dysarthria.
- Trial name
- NCT01684670
- Testing
- Speech sessions
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Cystic Fibrosis, Polymyxin B
Pharmacokinetics of Polymyxin B in Adult Patients With Cystic Fibrosis
Cystic fibrosis (CF) pulmonary disease is a major cause of morbidity and mortality in CF patients and is punctuated by episodes of acute exacerbation that require antibiotic treatment.
- Trial name
- NCT04335370
- Testing
- Blood Draw
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Michigan
Glycogen Storage Disease Type II
Respiratory Muscle Training in L-Onset Pompe Disease (LOPD)
This study is being done to test the effects of respiratory muscle training (RMT) in patients with late-onset Pompe Disease (LOPD) who have weakness of their breathing muscles.
- Trial name
- NCT02801539
- Testing
- RMT therapy using modified RMT device
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Hereditary Breast and Ovarian Cancer Syndrome
Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
Breast cancer (BC) is a major health problem and the most prevalent cancer among women.In a substantial proportion of familial cases, germ-line mutations in either BRCA1/2 can be detected.
- Trial name
- NCT01367639
- Testing
- Inquiry Based Stress Reduction (IBSR) program
- Where
- Israel
- Volunteers
- 67 people
- Sponsor
- Sheba Medical Center
Retinopathy of Prematurity (ROP)
Long-term Safety and Efficacy Outcome Study Comparing Children Previously Enrolled in Study ROPP-2008-01 for the Prevention of Retinopathy of Prematurity (ROP)
The main purpose of this study is to evaluate the long-term efficacy and safety outcomes following short-term exposure to rhIGF-1/rhIGFBP-3 versus standard neonatal care in Study ROPP-2008-01 (NCT01096784).
- Trial name
- PEDAL (NCT02386839)
- Testing
- rhIGF-1/rhIGFBP-3
- Where
- 16 sites in United States, Italy and 4 more
- Volunteers
- 76 people
- Sponsor
- Shire
Sickle Cell Disease
A Study of Prasugrel in Pediatric Participants With Sickle Cell Disease (SCD)
The main purpose of the study is to evaluate the efficacy and safety of the study drug known as prasugrel for the reduction of Vaso-Occlusive Crisis events in pediatric participants with sickle cell disease.
- Trial name
- NCT01794000
- Testing
- Prasugrel
- Where
- 50 sites in United States, Belgium and 12 more
- Volunteers
- 341 people
- Sponsor
- Eli Lilly and Company
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