Clinical trials: Immune Defects
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
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
DiGeorge Anomaly, Complete DiGeorge Anomaly
Phase I/II Thymus Transplantation With Immunosuppression #950
The study purpose is to determine if cultured thymus tissue implantation (CTTI) (previously described as transplantation) with tailored immunosuppression based on the recipient's pre-implantation T cell population is a safe and…
- Conditions
- DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete Atypical DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- #950 (NCT00579527)
- Testing
- Cultured Thymus Tissue for Implantation (CTTI), Cultured Thymus Tissue Implantation and Parental Parathyroid Transplantation, Blood Draw
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
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
DiGeorge Syndrome, DiGeorge Anomaly
Thymus Transplantation With Immunosuppression
The research purpose is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge anomaly.
- Conditions
- DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- 884 (NCT00579709)
- Testing
- Thymus Tissue for Transplantation
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Cerebral Palsy, Spina Bifida
A Peer E-mentoring Intervention to Improve Employment
Despite the strong business case of hiring people with disabilities, a significant proportion of youth with disabilities leave high school and neither work nor continue their education and are unprepared to meet the demands of a…
- Conditions
- Cerebral Palsy, Spina Bifida, Juvenile Arthritis, Spinal Cord Injury
- Trial name
- NCT02522507
- Testing
- Empowering youth towards employment
- Where
- Canada
- Volunteers
- 44 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
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)
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
Hypogammaglobulinemia, Congenital Heart Disease
Post-bypass Prophylactic IVIG in Infants and Neonates
The purpose of this study protocol is to determine if administering Intravenous Immunoglobulin (IVIG) for treatment of cardiopulmonary bypass (CPB) induced hypogammaglobulinemia in the early post-operative period can impact…
- Trial name
- NCT02043379
- Testing
- IVIG
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Alabama at Birmingham
Adenovirus, Cytomegalovirus Infections
Anti-viral T-cell Therapy by Gamma Capture
The primary purpose of this phase I/II study is to evaluate whether partially matched, ≥1/6 Human Leukocyte Antigens (HLA) -matched, viral specific T cells have efficacy against adenovirus, Cytomegalovirus (CMV), and Epstein Barr…
- Conditions
- Adenovirus, Cytomegalovirus Infections, Epstein-Barr Virus Infections
- Trial name
- Gamma Capture (NCT06027879)
- Testing
- Specific T- Lymphocytes
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Kidney Transplant, Familial Hypercholesterolaemia
Cardiovascular Risk in Children With Chronic Conditions Study
Children living with chronic health conditions face a higher risk of developing cardiovascular diseases than their peers, largely due to the accelerated aging of the heart and blood vessels.
- Conditions
- Kidney Transplant, Familial Hypercholesterolaemia, Type 1 Diabetes Mellitus (T1DM), Type 2 Diabetes Mellitus (T2DM)
- Trial name
- CR3C (NCT07086989)
- Where
- 3 sites in Hungary
- Volunteers
- 300 people
- Sponsor
- Semmelweis University
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)
Spinal Cord Injuries, Spina Bifida
Examining Capacity Building of Youth With Physical Disabilities to Pursue Participation Following the PREP Intervention.
The goal of this clinical trial is to learn about how a participation-based intervention builds capacity of youth with physical disabilities to pursue activities of their choice in the community.
- Conditions
- Spinal Cord Injuries, Spina Bifida, Musculoskeletal Disorder, Juvenile Arthritis
- Trial name
- NCT06007885
- Testing
- Pathways and Resources to Engagement and Participation (PREP)
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- McGill University
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Birth Defects, Pregnancy Complications
Betaseron Pregnancy Registry
This is a prospective, observational, registration and follow-up study of women exposed to Betaseron® at the time of conception (i.e., any time from the first day of the last menstrual period) and/or during pregnancy.
- Conditions
- Birth Defects, Pregnancy Complications, Multiple Sclerosis
- Trial name
- NCT00317564
- Where
- United States
- Volunteers
- 113 people
- Sponsor
- Syneos Health
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
Cystic Fibrosis, Immunologic Deficiency Syndrome
Natural History of Noncirrhotic Portal Hypertension
Background: Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs.
- Conditions
- Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis
- Trial name
- NCT02417740
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Primary Ciliary Dyskinesia, Primary Immune Deficiency
Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia…
- Conditions
- Primary Ciliary Dyskinesia, Primary Immune Deficiency, Kartagener Syndrome
- Trial name
- NCT04702243
- Testing
- Genetic Testing for PCD or PID, Unaffected Family Member Genetic Testing
- Where
- 8 sites in United States, Canada
- Volunteers
- 436 people
- Sponsor
- University of North Carolina, Chapel Hill