Clinical trials: SCID
Primary Immunodeficiency, DOCK8
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Background: National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in…
- Conditions
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- Trial name
- NCT00895271
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Haematological Malignancy, Acute Leukemia
Feasibility Study to Assess an Adapted Physical Activity Program in Children, Adolescents and Young Adults Requiring Hematopoietic Stem Cell Transplantation
Allogeneic haematopoietic stem cell transplantation (aHSCT) is the only curative treatment for many paediatric and young adult haematological pathologies (acute leukaemia, myelodysplastic syndromes haemoglobinopathies, bone…
- Conditions
- Haematological Malignancy, Acute Leukemia, Myelodysplastic Syndromes, Hemoglobinopathy in Children
- Trial name
- EVAADE (NCT05298930)
- Testing
- Physical activity program
- Where
- France
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Centre Leon Berard
Alopecia
Effects of Ligands on Human Hair Follicles Grafted Onto SCID Mice
The purpose of this study is to determine if immunophilin ligands may have the potential to reverse hair loss.
- Trial name
- NCT00177099
- Testing
- FK506, GP11046, GP11511
- Where
- United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Hordinsky, Maria K., MD
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
T-Cell Immune Deficiency Diseases, Severe Combined Immunodeficiency
IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency
This is a multi-institution, single arm, non-randomized pilot study coordinated by the Pediatric Blood and Marrow Transplant Consortium.
- Trial name
- NCT00228852
- Testing
- Busulfan, Fludarabine and ATG
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Emory University
Severe Combined Immunodeficiency
Study Through Imaging of Visceral Lymphoid Organs in Patients With SCID Who Have Recieved Bone Marrow Allograft
To investigate the presence of seconday of lymphoid organs in patients who underwent allogenic hematopoietic stem cell transplantation 15 to 45 years ago.
- Trial name
- LymphImaging (NCT04246840)
- Where
- France
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Association Pour l'Aide a la Recherche en Immunologie Pediatrique
Primary Immunodeficiency Disorders
The Mechanistic Biology of Primary Immunodeficiency Disorders
Background: Primary immunodeficiency disorders, or PIDs, are diseases that weaken the immune system. This makes it easier for a person to get sick. Some PIDs are mild and may not be diagnosed until later in life.
- Trial name
- NCT03394053
- Where
- 2 sites in United States
- Volunteers
- 1,190 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Severe Combined Immunodeficiency
The Experience of Screening for SCID
This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of…
- Trial name
- NCT05651113
- Testing
- SCID Screening
- Where
- United Kingdom
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- King's College London
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
Severe Combined Immunodeficiency, Atypical
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development .
- Trial name
- DEPISTREC (NCT02244450)
- Testing
- SCID screening
- Where
- 51 sites in France
- Volunteers
- 190,539 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Severe Combined Immunodeficiency Due to ADA Deficiency
Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs)
STRIMVELIS is a medicinal product that restores adenosine deaminase (ADA) function in hematopoietic cell lineages, thereby preventing impaired immune function.
- Trial name
- NCT03232203
- Testing
- STRIMVELIS
- Where
- Italy
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Fondazione Telethon
Alveolar Soft Part Sarcoma, Sarcoma
Collection of Alveolar Soft Part Sarcoma and Blood Specimens for Research
Background: Alveolar soft part sarcoma (ASPS) is a rare tumor. ASPS is resistant to chemotherapy and radiation. ASPS is characterized by slow growth.
- Trial name
- NCT00340353
- Where
- United States
- Volunteers
- 99,999 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)