Clinical trials: Abnormalities
Bicuspid Aortic Valve Disease
Bicuspid Echocardiac Study Team（BEST）
The Chinese Bicuspid Aortic Valve (BAV) Ultrasound imaging cohort study is a Chinese BAV ultrasound imaging cohort study. At present, a retrospective study cohort involving more than 30 hospitals has been established.
- Trial name
- BEST (NCT05656820)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Suzhou Municipal Hospital
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Atopic Dermatitis
Effects of Lactobacillus Reuteri Plus Vitamin D3 in Children With Atopic Dermatitis
The purpose of this study is to evaluate in a randomized, double-blinded, controlled trial, whether a new food supplement containing Lactobacillus reuteri DSM 17938 and vitamin D3 (Reuterin® D3) may improve the SCORAD in…
- Trial name
- NCT02945683
- Testing
- Reuterin D3
- Where
- Italy
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Noos S.r.l.
Sickle Cell Disease
Development and Evaluation of an Information Management System and Communication System for Population-wide Point-of-care Infant Sickle Cell Disease Screening
Although over 75% of children with sickle cell disease (SCD) are born in sub-Sahara where the disease highly contributes to under-5 mortality and causes life-long debilitation, evidence-based strategies to control SCD are not…
- Trial name
- SIMCS SCD (NCT06563440)
- Testing
- Digital app and information system
- Where
- 2 sites in United States, Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
Neurofibromatosis Type 1
A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
The specific aim of this study is to determine whether Lovastatin ™ significantly improves visual spatial learning and/or sustained attention in children with NF1.
- Trial name
- STARS (NCT00853580)
- Testing
- Lovastatin ™
- Where
- 12 sites in United States, Australia
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Sickle Cell Anemia Crisis
Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Patients With Acute Sickle Cell Crises?
The purpose of this study is to determine whether IV acetaminophen can decrease the need for subsequent opioid administration in the acute management of sickle cell crisis pain in the pediatric emergency room.
- Trial name
- NCT03541980
- Testing
- Acetaminophen, Normal saline
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Newark Beth Israel Medical Center
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Complicated Twin Pregnancy
The Value of Prenatal Ultrasound in Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies
Recent years, women with infertility have become more and more and thus assisted reproductive technology has been applied in a broad range. And the quantities of twin pregnancies are larger and larger.
- Trial name
- NCT02732717
- Testing
- ultrasound (observation)
- Where
- China
- Volunteers
- 580 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Substance-Related Disorders, Alcohol-Related Disorders
Conflict Between Maternal Autonomy and Child Health in Substance-use
Qualitative project, comprising open-ended semi-structured interviews with healthcare workers, who provide antenatal care to substance-using women.
- Conditions
- Substance-Related Disorders, Alcohol-Related Disorders, Amphetamine-Related Disorders, Inhalant Abuse
- Trial name
- NCT02797990
- Where
- United Kingdom
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- London School of Hygiene and Tropical Medicine
Anemia, Sickle Cell, Sickle Cell Disease
Preventing Sickle Cell Kidney Disease
Untreated hypertension and renal injury are risk factors for increased morbidity and mortality in sickle cell disease, yet early markers of progressive disease have not been identified and therapies to prevent the development of…
- Conditions
- Anemia, Sickle Cell, Sickle Cell Disease, Kidney Disease, Hypertension
- Trial name
- NCT02373241
- Testing
- Losartan
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Rare Diseases, Congenital Disorders
Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes
Primary Study Objective The primary objective of the study is the definition of distinct vocal phenotypes and the development of an Explained Decision Support System (DSS) for the automatic detection of vocal patterns in relation…
- Trial name
- FONOTIPO (NCT05955794)
- Testing
- voice recordings
- Where
- Italy
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Dermatitis, Atopic
Intervention Study to Evaluate a Probiotic in Mild Atopic Dermatitis Young Patients
The aim of the study is to evaluate the beneficial effect of a probiotic preparation with an antiinflammatory and modulating activity on immunological processes, with positive results on different inflammatory and atopic…
- Trial name
- NCT02585986
- Testing
- Probiotic
- Where
- Spain
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Biopolis S.L.
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Primary Ciliary Dyskinesia
Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
Primary ciliary dyskinesia is an autosomal recessive disorder characterized by abnormal ciliary movement and disrupted mucociliary clearance.
- Trial name
- NCT03370029
- Where
- Turkey (Türkiye)
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Gazi University
Fanconi Anemia
Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine
The purpose of this research study is to: (1) determine if the combination of low dose total body irradiation, low dose cyclophosphamide and the addition of fludarabine, and a serum to suppress the immune system can allow…
- Trial name
- NCT00595127
- Testing
- Cyclophosphamide, Fludarabine, Total body irradiation (TBI)
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Cleft Lip and Palate
Evaluation of Efficiency the Full Digital Nasoalveolar Molding (F-D-NAM) on Nose and Lip Esthetics and Maxillary Arch Changes in Infants With Cleft Lip and Palate
Objectives: The aim of this study is to validate the measurements produced from a new 3D analysis using facial scans in infants with unilateral cleft lip and palate.
- Trial name
- NCT07660042
- Testing
- F-D-NAM
- Where
- Egypt
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Cairo University
Craniosynostoses
Neurodevelopmental Outcomes in Craniosynostosis Repair
Context: Craniosynostosis is a common craniofacial abnormality which can be associated with various clinical syndromes. Though it has been established that children with craniosynostosis score lower on certain developmental…
- Trial name
- NCT04072783
- Testing
- MRI,DTI, functional MRI
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
Heart Septal Defects, Ventricular
Study of Energy Expenditure in Infants With Ventricular Septal Defects
OBJECTIVES: I. Compare the total daily energy expenditure in infants with ventricular septal defects vs healthy control infants.
- Trial name
- NCT00006272
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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