Clinical trials: Congenital Disorder
Myelofibrosis, Gaucher Disease
Clinical and Pathophysiological Investigations Into Erdheim Chester Disease
Background: Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain.
- Conditions
- Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT01417520
- Where
- United States
- Volunteers
- 88 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis
Short-term Effects of Physiotherapy on LCI
Although some studies have brought some evidences about the efficacy of positive expiratory pressure (PEP)-mask therapy as an airway clearance technique, yet it is not clearly understood what is the contribution of this technique…
- Trial name
- SPICy (NCT03760120)
- Testing
- PEP-MASK
- Where
- 2 sites in Italy
- Volunteers
- 19 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Primary Immune Deficiency
Safety Study of Subcutaneous Ig NextGen 16% in Patients With Primary Immunodeficiency
The study aims to assess the safety and tolerability of subcutaneous Ig NextGen 16% in patients with Primary Immune Deficiency who require Immunoglobulin (Ig) G replacement therapy.
- Trial name
- NCT00680446
- Testing
- Immunoglobulin G (Ig NextGen 16%)
- Where
- 9 sites in Australia, New Zealand
- Volunteers
- 41 people
- Sponsor
- CSL Limited
Congenital Heart Disease, Periventricular Leucomalacia
Randomized Trial of Maternal Progesterone Therapy
Neurodevelopmental disability is now recognized as the most common long-term complication after cardiac surgery in neonates. Research studies have shown that progesterone is critical to the development of the brain and in a…
- Conditions
- Congenital Heart Disease, Periventricular Leucomalacia, Brain Development, Cardiac Surgery
- Trial name
- NCT02133573
- Testing
- Progesterone, Vaginal lubricant
- Where
- United States
- Volunteers
- 102 people
- Sponsor
- Children's Hospital of Philadelphia
Congenital Heart Defect, Chronic Pain
Impacting Children's Physical and Mental Health Through Kinesiology Support in Clinical Care
Over the past four decades, it has become clear that childhood physical activity carries with it a myriad of beneficial effects.
- Conditions
- Congenital Heart Defect, Chronic Pain, Concussion Post Syndrome, Cerebral Palsy
- Trial name
- NCT04106154
- Testing
- Kinesiology Support
- Where
- Canada
- Volunteers
- 111 people
- Sponsor
- Children's Hospital of Eastern Ontario
MELAS Syndrome
Nitric Oxide Production in MELAS Syndrome
Introduction Baylor College of Medicine and Texas Children's Hospital are recruiting individuals with MELAS syndrome for a clinical study.
- Trial name
- NCT01339494
- Testing
- Arginine and citrulline supplementations
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q)
Iodine I 131 Monoclonal Antibody BC8, Fludarabine Phosphate, Total Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients With Advanced Acute Myeloid Leukemia or Myelodysplastic Syndrome
This phase II trial studies the side effects and best dose of iodine I 131 monoclonal antibody BC8 when given together with fludarabine phosphate, total-body irradiation, and donor stem cell transplant followed by cyclosporine…
- Conditions
- Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12)
- Trial name
- NCT00119366
- Testing
- iodine I 131 monoclonal antibody BC8, fludarabine phosphate, total-body irradiation
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Fred Hutchinson Cancer Center
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Netherton Syndrome
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome
To assess the safety, tolerability, and efficacy of QRX003 lotion (4%) when added to standard of care treatment regimen, including systemic therapy in subjects with Netherton syndrome
- Trial name
- NCT05789056
- Testing
- QRX003, 4% Lotion
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- Quoin Pharmaceuticals
Fetal Alcohol Spectrum Disorders
FASST - Fetal Alcohol Spectrum Stimulant Trial
This study is a double-blind, placebo controlled, series of N-of-1 trials of individualised stimulant dose on ADHD symptomatology in children with FASD.
- Trial name
- FASST (NCT04968522)
- Testing
- Methylphenidate Hydrochloride, Methylphenidate Hydrochloride 18 MG, Dexamphetamine sulfate
- Where
- Australia
- Volunteers
- 20 people
- Sponsor
- Monash Medical Centre
Hemophilia A
China ADVATE PTP Study
The purpose of this study is to assess efficacy, safety and pharmacokinetics of ADVATE in the treatment and prevention of bleeding episodes (BEs)
- Trial name
- NCT02170402
- Testing
- Octocog alfa (recombinant human coagulation factor VIII)
- Where
- 11 sites in China
- Volunteers
- 82 people
- Sponsor
- Baxalta now part of Shire
Premature, Feeding Disorders
Effect OF Lactase Enzyme Supplements ON Intolerance IN Preterm Neonates
This study aims to study the effect of lactase enzyme in preventing feeding intolerance in preterm neonates in neonatal intensive care unit at Alexandria University Children's Hospital.
- Conditions
- Premature, Feeding Disorders, Lactase Deficiency, Congenital
- Trial name
- NCT07088302
- Testing
- lactase administration
- Where
- Egypt
- Volunteers
- 120 people
- Sponsor
- Alexandria University
Bronchopulmonary Dysplasia
Inhaled Treatment for Bronchopulmonary Dysplasia
The primary objective of this study is to provide expanded access of S-nitrosylation therapy for the treatment of bronchopulmonary dysplasia
- Trial name
- NCT04619602
- Testing
- GSNO
- Where
- United States
- Sponsor
- University Hospitals Cleveland Medical Center
Hemophilia, Hemophilia A
Viscoelastic Properties of Lower Extremity Muscles in Patients With Hemophilia
The aim of our study is to evaluate the viscoelastic properties of lower extremity muscles in patients with hemophilia A and hemophilia B secondarily to compare them with their healthy peers.
- Conditions
- Hemophilia, Hemophilia A, Hemophilia B
- Trial name
- NCT05981313
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Hasan Kalyoncu University
Sickle Cell Disease
Haploidentical Bone Marrow Transplantation in Sickle Cell Patients (BMTCTN1507)
This is a Phase II, single arm, multi-center trial, designed to estimate the efficacy and toxicity of haploidentical bone marrow transplantation (BMT) in patients with sickle cell disease (SCD).
- Trial name
- NCT03263559
- Testing
- Haploidentical Bone Marrow Transplantation, Hydroxyurea, Rabbit-ATG
- Where
- 32 sites in United States
- Volunteers
- 95 people
- Sponsor
- Medical College of Wisconsin
Congenital Heart Defects
Randomized Controlled Trial of the Effects of Electroacupuncture Preconditioning in Children Undergoing Cardiac Surgery
The purpose of this study is to determine whether electroacupuncture preconditioning would provide protection against myocardial Ischemic-Reperfusion injury and systemic inflammation in children undergoing CPB for repair of…
- Trial name
- NCT01227096
- Testing
- Electrical acupuncture stimulation
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Air Force Military Medical University, China
Cystinosis
Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2)
Cystadrops® is currently indicated in adults and children from 2 years of age diagnosed with cystinosis with corneal crystal accumulation observed.
- Trial name
- SCOB2 (NCT04125927)
- Testing
- Mercaptamine
- Where
- 6 sites in Belgium, France and 3 more
- Volunteers
- 5 people
- Sponsor
- RECORDATI GROUP
Infant, Newborn, Diseases, Sepsis
Prevention of Perinatal Sepsis (PoPS): Evaluation of Chlorhexidine Wipes of Birth Canal and Newborn
The purpose of this study is to evaluate whether use of the disinfectant chlorhexidine administered to the birth canal during labour and newborn at delivery can protect a woman and her baby from bacterial infections after birth.
- Conditions
- Infant, Newborn, Diseases, Sepsis, Puerperal Infection
- Trial name
- NCT00136370
- Testing
- Chlorhexidine, Birth canal wipe, sterile water external genital wipe
- Where
- South Africa
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- Centers for Disease Control and Prevention
Angelman Syndrome
A Study in Adults and Adolescents With Angelman Syndrome (STARS)
The purpose of the study is to assess the safety and tolerability of oral OV101 (gaboxadol) in adult and adolescent subjects with Angelman syndrome. In addition, several exploratory efficacy outcome measures will be investigated.
- Trial name
- NCT02996305
- Testing
- OV101 Regimen 1, OV101 regimen 2
- Where
- 13 sites in United States, Israel
- Volunteers
- 88 people
- Sponsor
- Healx AI
Tetralogy of Fallot, Cardiac Death, Sudden
Repaired Tetralogy of Fallot Italian Registry
The CMR/CT WG of the Italian pediatric cardiology society set up a multi-center observational clinical database of repaired-TOF evaluated.
- Conditions
- Tetralogy of Fallot, Cardiac Death, Sudden, Cardiac Arrhythmia, Cardiac Event
- Trial name
- RETE-Fallot (NCT05288894)
- Testing
- Cardiac magnetic resonance imaging
- Where
- Italy
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Azienda Ospedaliero, Universitaria Ospedali Riuniti
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