Clinical trials: Immune Defects
Spinal Cord Injuries, Spina Bifida
Downstream Effects of Personalized 'Top-down' Participation-based Interventions Among Youth With Physical Disabilities
Participation in community-based activities is essential to the health and well-being of youth with physical disabilities; yet, it is extremely restricted.
- Conditions
- Spinal Cord Injuries, Spina Bifida, Musculoskeletal Disorder, Juvenile Arthritis
- Trial name
- NCT05784285
- Testing
- Engagement in a 8-week community-based activity program
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- McGill University
Immune Defect, 22q11.2 Deletion Syndrome
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
- Trial name
- NCT02460328
- Where
- Thailand
- Volunteers
- 43 people
- Sponsor
- Mahidol University
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome
Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders. II. Explore the mutations within each syndrome to better understand the genetics of these disorders. III.
- Conditions
- X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
- Trial name
- NCT00004341
- Where
- United States
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
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
Congenital Heart Disease, Pediatric ALL
Digital Health Promotion for Children With Congenital Heart Disease and Their Guardians
Congenital heart disease (CHD) affects approximately 1% of live births, and children with CHD often fail to meet WHO physical activity guidelines. Digital interventions to promote physical activity in CHD patients are limited.
- Trial name
- NCT06626672
- Testing
- Digital Health Intervention
- Where
- Germany
- Volunteers
- 60 people
- Sponsor
- Deutsches Herzzentrum Muenchen
DiGeorge Anomaly, DiGeorge Syndrome
Thymus Transplantation Dose in DiGeorge #932
One purpose of this study is to determine whether the amount of cultured thymus tissue implanted into DiGeorge anomaly infants has any effect on the immune outcome.
- Conditions
- DiGeorge Anomaly, DiGeorge Syndrome, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- NCT00576836
- Testing
- Cultured Thymus Tissue Implantation (CTTI), Cultured Thymus Tissue Implantation with Parathyroid Transplantation
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Molar Incisor Hypomineralisation
Correlation Between Colour and Hypersensitivity of First Permanent Molars With Molar Incisor Hypomineralisation (MIH)
Cheese molars (MIH: molar incisor hypomineralisation) can be recognized not only by their colour abnormalities but also by their hypersensitivity.
- Trial name
- NCT07727044
- Where
- Switzerland
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Basel
Immunodeficiency
Sample Collection for Systems Evaluation of Patients With Unknown or Incompletely Characterized Immune Defects
Background: The immune system defends the body against disease. It has many different parts spread out in the body, including in the blood and skin.
- Trial name
- NCT04408950
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Neurogenic Detrusor Overactivity
Open-label, Long-term Safety, Efficacy, and Pharmacokinetics Study of Vibegron in Pediatric Subjects 2 Years to < 18 Years of Age With NDO and on CIC
The purpose of this study is to evaluate the safety, efficacy, and PK of Vibegron in pediatric participants with NDO who are regularly using CIC
- Trial name
- KANGUROO (NCT05491525)
- Testing
- Vibegron
- Where
- 38 sites in United States, Belgium and 14 more
- Volunteers
- 71 people
- Sponsor
- Urovant Sciences GmbH
DiGeorge Anomaly
Serum-Free Thymus Transplantation in DiGeorge Anomaly
The study purpose is to determine if thymus tissue cultured in a serum-free (SF) solution is a safe and effective treatment for atypical and typical complete DiGeorge anomaly. [Funding Source - FDA OOPD]
- Trial name
- SerumFree (NCT00849888)
- Testing
- Serum Free Thymus Transplantation with Immunosuppression, Serum Free Thymus Transplantation without immunosuppression
- Volunteers
- 2 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Pediatric ALL, Congenital Heart Disease
Virtual Remote Physiological Monitoring Program of Children With Heart Disease
Infants and children with heart conditions require treatment in children's hospitals that are typically located in large cities.
- Conditions
- Pediatric ALL, Congenital Heart Disease, Single-ventricle, Biventricular Congestive Heart Failure
- Trial name
- NCT05034354
- Testing
- Remote physiological monitoring
- Where
- Canada
- Volunteers
- 23 people
- Sponsor
- University of Alberta
Immune Defects
Detection and Characterization of Host Defense Defects
This protocol is designed to evaluate selected patients with documented recurrent or unusual infections and their family members for clinical and laboratory correlates of immune abnormalities.
- Trial name
- NCT00001355
- Where
- United States
- Volunteers
- 3,600 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
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
Preterm Birth, Pediatric Cancer
eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness
The overall aim is twofold: 1) to stretch the borderline regarding the present knowledge of clinical and economic cost-effectiveness of eHealth as an aid for facilitating and supporting self-management in families with long-term…
- Conditions
- Preterm Birth, Pediatric Cancer, Hirschsprung Disease, Congenital Malformation
- Trial name
- eChildHealth (NCT04150120)
- Testing
- e-health device with application, Mobile phone text messaging, early detection of cerebral palsy using a mobile phone application
- Where
- 7 sites in Denmark, Ethiopia and 1 more
- Volunteers
- 720 people
- Sponsor
- Lund University
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
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
Hematologic Diseases
The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases
The universe of Inborn errors of Immunity (IEI) is rapidly expanding: their clinical spectrum is not only characterised by infections but often includes haematological complications.
- Trial name
- NCT06857604
- Testing
- Biological samples
- Where
- 7 sites in Canada, France and 3 more
- Volunteers
- 700 people
- Sponsor
- Meyer Children's Hospital IRCCS
Congenital Cardiac Defect, Acute Renal Injury
Investigation of the Relationship Between Blood Transfusion Volume and Development of Renal Failure in Pediatric Patients Undergoing Cardiovascular Surgery
Blood transfusion strategies in cardiac surgery are a research topic that has been studied more for adults. There is not enough data on this subject for children in studies.
- Conditions
- Congenital Cardiac Defect, Acute Renal Injury, Blood Transfusion Complication
- Trial name
- NCT06889272
- Testing
- blood transfusion
- Where
- Turkey (Türkiye)
- Volunteers
- 205 people
- Sponsor
- Hacettepe University