Clinical trials: Immune Defects
Spinal Cord Injuries, Cerebral Palsy
Mobile Health Self-Management and Support System for Chronic and Complex Health Conditions
This study will assess the benefits of using mobile health system designed for individuals with chronic and complex health conditions (such as those with Spinal Cord Injury,Cerebral Palsy, Spina Bifida, and Traumatic Brain…
- Conditions
- Spinal Cord Injuries, Cerebral Palsy, Spinal Dysraphism, Brain Injuries
- Trial name
- NCT02592291
- Testing
- MHealth
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Ventricular Septal Defect
Immune Heterogeneity Before and After Cardiopulmonary Bypass in Children
The goal of this observational study is to learn about functional heterogeneity of immune cells before and after cardiopulmonary bypass (CPB) in children with congenital heart disease (CHD).
- Trial name
- NCT06214182
- Where
- China
- Volunteers
- 3 people
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine
Dentin Sensitivity, Molar Incisor Hypomineralization
MIH and Hypersensitivity in Children
The aim of this study was to evaluate the efficacy of the association of casein phosphopeptide plus amorphous calcium phosphate (CPP-ACPF) mousse and photo-bio-modulation therapy (PMBT) (diode laser, RAFFAELLO 980 BIO - Dental…
- Trial name
- NCT05705037
- Testing
- CPP-ACPF, PBMT, CPP-ACPF+PBMT
- Where
- Italy
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Università degli Studi di Brescia
High Risk Pregnancy, Congenital Heart Disease
Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise
Each year world-wide, 2.5 million fetuses die unexpectedly in the last half of pregnancy, 25,000 in the United States, making fetal demise ten-times more common than Sudden Infant Death Syndrome.
- Conditions
- High Risk Pregnancy, Congenital Heart Disease, Fetal Hydrops, Twin Monochorionic Monoamniotic Placenta
- Trial name
- NCT03775954
- Testing
- Fetal Magnetocardiogram and Neonatal Electrocardiogram, Substudy only: Maternal/Infant Pharmacogenomic assessment postnatally
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Medical College of Wisconsin
Congenital Heart Disease, Pediatric ALL
HIIT in Youth With Congenital Heart Disease (MedBIKE)
Congenital heart disease (CHD), the most common birth defect, is present in nearly 1% of the population. CHD patients are associated with intense resource utilization and premature death in adulthood.
- Trial name
- NCT04575883
- Testing
- MedBIKE HIIT
- Where
- Canada
- Volunteers
- 44 people
- Sponsor
- University of Alberta
Molar Incisor Hypomineralization
HYPERSENSITIVITY IN MOLAR INCISOR HYPOMINERALISATION USING LOW LEVEL LASER IN CHILDREN
Molar Incisor Hypomineralisation (MIH) is a qualitative defect of enamel that shows asymmetrically involvement of one to four on first permanent molars (FPM) with or without incisor teeth involvement.
- Trial name
- NCT06154733
- Testing
- Photobiomodulation usinf low level laser therapy, Resin-based sealant, Glass ionomer sealant
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Alexandria University
Atopic Dermatitis, Skin Inflammation
Detection of Skin Epithelial Barrier in Patients With Allergic Skin Disorders
The primary function of epithelial tissues is to form a barrier between the body and the external environment, in order to protect the internal tissues from environmental stresses, by minimizing water loss and preventing the…
- Trial name
- NCT03581747
- Testing
- Nevisense
- Where
- Switzerland
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Swiss Institute of Allergy and Asthma Research
Creation of an Italian Network of Biobanks of Rare Diseases
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000.
- Trial name
- SATELLITES (NCT06782230)
- Where
- Italy
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Neurologic Disorder, Parkinson Disease
High Intensity Functional Training for Individuals With Neurologic Diagnoses and Their Care Partners
Individuals with and without neurologic diagnoses greatly benefit from participation in regular exercise but the majority are physically inactive.
- Conditions
- Neurologic Disorder, Parkinson Disease, Spinal Cord Injuries, Spina Bifida
- Trial name
- SHIFT-AR (NCT05951985)
- Testing
- HIFT
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Arkansas Colleges of Health Education
Sex Chromosome Abnormality, Klinefelter Syndrome
Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns.
- Conditions
- Sex Chromosome Abnormality, Klinefelter Syndrome, Turner Syndrome, Metabolic Disease
- Trial name
- EMKISCA (NCT05425953)
- Testing
- No intervention other than obtaining biopsies
- Where
- Denmark
- Volunteers
- 320 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Molar Incisor Hypomineralization, Hypersensitivity
Intraosseous vs Infiltration Anesthesia in Molar-Incisor Hypomineralization (MIH) Children
This study aims to compare the effectiveness of intraosseous and infiltration anesthesia techniques administered using a computer-assisted anesthesia device (SleeperOne® 5; Dental HiTec, France) during restorative treatments of…
- Trial name
- MIH (NCT07352813)
- Testing
- Intraosseous anaesthesia using a computerized system, Infiltration anaesthesia using a computerized system
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Ankara Yildirim Beyazıt University
Immune Deficiency and Early BMF in Childhood
Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes
The molecular mechanisms participating in the various aspects of the DNA Damage Response (DDR) are absolutely essential to maintain the genome dynamics essential to all living organisms.
- Trial name
- IMMUNEREP (NCT02556359)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Thymus Transplantation in DiGeorge Syndrome #668
The study purpose is to determine whether cultured thymus tissue implantation (CTTI) is effective in treating typical complete DiGeorge syndrome.
- Trial name
- NCT00576407
- Testing
- Cultured Thymus Tissue for Implantation (CTTI)
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Arrhythmogenic Right Ventricular Cardiomyopathy, Cardiomyopathies
Mayo AVC Registry and Biobank
Arrhythmogenic ventricular cardiomyopathy (AVC) is a genetic condition which affects the heart and can lead to heart failure and rhythm problems, of which, sudden cardiac arrest or death is the most tragic and dangerous.
- Conditions
- Arrhythmogenic Right Ventricular Cardiomyopathy, Cardiomyopathies, Heart Diseases, Cardiovascular Diseases
- Trial name
- NCT03049254
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Spina Bifida, Multiple Sclerosis
Urinary Markers of Detrusor Overactivity in Spina Bifida Patients
The purpose of this study is to assess diagnostic performance of urinary markers of detrusor overactivity (Nerve Growth Factor (NGF), Brain-Derived Neurotrophic Factor (BDNF), adenosine triphosphate (ATP), Prostaglandine E2) in…
- Conditions
- Spina Bifida, Multiple Sclerosis, Spinal Cord Injury, Overactive Bladder
- Trial name
- BUHD-SPINA (NCT02852317)
- Where
- France
- Volunteers
- 134 people
- Sponsor
- Rennes University Hospital
EBV, HSV
The Natural History of Severe Viral Infections and Characterization of Immune Defects in Patients Without Known Immunocompromise
Background: Infections caused by viruses are common causes of illnesses: the common cold, many ear infections, sore throats, chicken pox, and the flu are caused by different viruses.
- Conditions
- EBV, HSV, VZV, HPV
- Trial name
- NCT01011712
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Immune Deficiency
Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas
Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterised not only by an infectious diathesis, but by a wide variety of other clinical manifestations.
- Trial name
- NCT06332196
- Testing
- Analysis of biological sample and clinical data
- Where
- 4 sites in Italy
- Volunteers
- 50 people
- Sponsor
- Meyer Children's Hospital IRCCS
Primary Ciliary Dyskinesia, Kartagener Syndrome
Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies
Though common, morbidities related to upper airway disease in primary ciliary dyskinesia (PCD) and primary immunodeficiencies (PID) have not been fully characterized.
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome, Primary Immune Deficiency
- Trial name
- NCT04919018
- Where
- 4 sites in United States, Canada
- Volunteers
- 159 people
- Sponsor
- University of North Carolina, Chapel Hill