Clinical trials: Immune Defect, open to volunteers
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
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
Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized…
- Trial name
- SPLIS-HIS (NCT06669949)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- University of California, San Francisco
Immunology, Allergy
Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National Cohort
The major role of human genetic factors in the immune response to infections is now well established, particularly for viral infections.
- Conditions
- Immunology, Allergy, Genetic Diseases, Infectious Diseases
- Trial name
- COVIFERON (NCT06762002)
- Testing
- blood sample
- Where
- 9 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Sphingolipidoses, Enzyme Deficiency
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, and to create a SPLIS patient registry.
- Trial name
- SPLIS-OSPRI (NCT04885179)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
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
Psoriasis, Pregnancy
Stelara and Tremfya Pregnancy Exposure Registry OTIS Autoimmune Diseases in Pregnancy Project
The purpose of the OTIS Autoimmune Diseases in Pregnancy Study is to monitor planned and unplanned pregnancies exposed to certain medications, to evaluate the possible teratogenic effect of these medications and to follow live…
- Conditions
- Psoriasis, Pregnancy, Psoriatic Arthritis, Crohn Disease
- Trial name
- NCT02103361
- Testing
- Ustekinumab, Guselkumab
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- University of California, San Diego
Persistent Corneal Epithelial Defect
An Efficacy and Safety Study of Cenegermin Ophthalmic Solution Compared With Vehicle in the Treatment of PCED
This is a phase 3, randomized, multicenter, double-masked, parallel group, vehicle-controlled prospective clinical trial to evaluate the safety and efficacy of cenegermin in inducing complete epithelial healing in participants…
- Trial name
- NCT07519902
- Testing
- Cenegermin, Vehicle
- Where
- 77 sites in United States, Argentina and 12 more
- Volunteers
- 150 people
- Sponsor
- Dompé Farmaceutici S.p.A
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
Chediak-Higashi Syndrome
Study of Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell…
- Trial name
- NCT00005917
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified
Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
The purpose of this study is to determine whether bilateral orthotopic lung transplantation (BOLT) followed by cadaveric partially-matched hematopoietic stem cell transplantation (HSCT) is safe and effective for patients aged…
- Conditions
- Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified, Severe Chronic Neutropenia, Chronic Granulomatous Disease (CGD)
- Trial name
- BOLT+BMT (NCT01852370)
- Testing
- CD3/CD19 negative allogeneic hematopoietic stem cells
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Paul Szabolcs
Pediatric ALL, Cardiac Defect
Evaluating the Relationship Between Skin Color and Pulse Oximeter Accuracy in Children
This multisite study seeks to understand whether and how pulse oximeter accuracy varies across children with different skin colors in real world clinical settings.
- Trial name
- PACH (NCT06529575)
- Where
- 3 sites in United States
- Volunteers
- 650 people
- Sponsor
- University of Pennsylvania
Diabetic Foot, Immune Defect
Immune Cells in Diabetic Chronic Foot Ulcers
The goal of this observational study is to learn about the role of immune cells in patients with diabetes and chronic foot ulcers.
- Trial name
- NCT06154915
- Testing
- medical treatments
- Where
- Sweden
- Volunteers
- 40 people
- Sponsor
- Karolinska Institutet
Melanoma, Immune Defect
Blocking TNF to Potentiate the ICI-dependent Immune Awakening in Melanoma
Cutaneous melanoma is a bad prognosis skin cancer, which can be treated with immune checkpoint inhibitors (ICI), such as anti-PD-1 (nivolumab, nivo) and anti-CTLA-4 (ipilimumab, ipi).
- Conditions
- Melanoma, Immune Defect, Tumor Skin
- Trial name
- ATPIC (NCT05867004)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Institut Claudius Regaud