Clinical trials: Primary Immune Deficiency Disorders
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hereditary Angioedema (HAE)
Long-term Safety and Efficacy Study of DX-2930 (SHP643) to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE
This study is an open-label, long term safety and efficacy study to evaluate DX-2930 in preventing acute angioedema attacks in participants with Type I and Type II HAE.
- Trial name
- NCT02741596
- Testing
- DX-2930
- Where
- 43 sites in United States, Canada and 5 more
- Volunteers
- 212 people
- Sponsor
- Shire
HIV Infection
MAPS PrEP Van Study
For this study the investigators aim to see if giving participants an oral HIV prevention medication on a medical van, is a good option of care for individuals who inject drugs and/or are sexually active and therefore at a higher…
- Trial name
- MAPS PrEP (NCT06908252)
- Testing
- Pre-Exposure Prophylaxis (PrEP)
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Duke University
Chronic Kidney Diseases, Type 2 Diabetes Mellitus
Prevalence, Incidence and Risk Signature of Chronic Kidney Disease in Sub-Saharan Africa
Chronic kidney disease (CKD) is associated with increased cardiovascular morbidity and mortality. The prevalence of CKD is increasing worldwide and is assumed to also dramatically increase in Sub-Saharan Africa (SSA).
- Conditions
- Chronic Kidney Diseases, Type 2 Diabetes Mellitus, Arterial Hypertension, Obesity
- Trial name
- RenalTWO (NCT05881447)
- Where
- Tanzania
- Volunteers
- 1,200 people
- Sponsor
- Swiss Tropical & Public Health Institute
Immuno-Deficiency
Pediatric Intensive Care Unit and Primary Immune Deficiency
To date, many studies have focused on the characteristics of PID in children, allowing to highlight an entry into the disease in the context of more or less severe infections in all pediatric departments.
- Trial name
- PICUPID (NCT05629247)
- Testing
- Systematic screening of immune deficiency
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Caen
Hereditary Angioedema
A Single and Multiple Doses Safety, Tolerability, Pharmacokinetics and Food Effect Study of KVD824 in Healthy Volunteers
This is a 3 part phase 1, randomized, double-blind, placebo-controlled, study of the safety, tolerability, and pharmacokinetics of KVD824 following administration of single and multiple ascending oral doses; followed by a…
- Trial name
- NCT05178355
- Testing
- KVD824
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- KalVista Pharmaceuticals, Ltd.
Ataxia Telangiectasia
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
- Trial name
- NCT04870866
- Testing
- Nicotinamide ribonucleoside
- Where
- 2 sites in Norway
- Volunteers
- 13 people
- Sponsor
- University Hospital, Akershus
Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders
Stem Cell Transplant for Immunologic or Histiocytic Disorders
This study tests the clinical outcomes of a preparative regimen of fludarabine (FLU), anti-thymocyte globulin (ATG)/or Campath, and melphalan; followed by hematopoietic stem cell transplant, and a post transplant regimen of…
- Conditions
- Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders, Chediak-Higashi Syndrome, Griscelli Syndrome
- Trial name
- NCT00176865
- Testing
- Stem Cell Transplant, Fludarabine, Melphalan
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
C1 Esterase Inhibitor Deficiency, Angio Edema
Biomarker for Hereditary AngioEdema Disease
International, multicenter, observational, longitudinal monitoring study to identify, validate and/or monitor Mass Spectrometry (MS)-based biomarker/s for Hereditary Angioedeme (HAE) disease and to test the clinical robustness…
- Conditions
- C1 Esterase Inhibitor Deficiency, Angio Edema, C4 Deficiency, HAE
- Trial name
- BioHAE (NCT03029728)
- Where
- 7 sites in Armenia, Georgia and 5 more
- Volunteers
- 42 people
- Sponsor
- CENTOGENE GmbH Rostock
Hereditary Angioedema (HAE)
Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema
Primary Objective - To assess the relative efficacy of two dose levels of CINRYZE (500 Units and 1000 Units) administered by intravenous (IV) injection every 3 or 4 days to prevent angioedema attacks in children 6 to 11 years of…
- Trial name
- NCT02052141
- Testing
- CINRYZE 500, CINRYZE 1000
- Where
- 8 sites in United States, Germany and 3 more
- Volunteers
- 12 people
- Sponsor
- Shire
Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome
Self-Test Strategies and Linkage Incentives to Improve ART and PrEP Uptake in Men
This is a randomized controlled trial to test a combination behavioral and biomedical interventions to improve the HIV prevention and care cascades in a population of mobile men in a high priority setting (fishermen in Kenya).
- Conditions
- Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome, HIV Infections, Sexually Transmitted Diseases, Viral
- Trial name
- NCT04772469
- Testing
- Provision of multiple self-tests, Small monetary incentives, Use of SMS/text reminders to motivate adherence to ART or PrEP
- Where
- Kenya
- Volunteers
- 934 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Primary Immune Deficiency
Study of Subcutaneous Immunoglobulin in Patients With PID Requiring IgG Replacement Therapy
The objective of this study is to assess the efficacy, tolerability, safety and pharmacokinetics of IgPro20 in patients with primary humoral immunodeficiency (PID).
- Trial name
- NCT00419341
- Testing
- Human Normal Immunoglobulin for Subcutaneous Administration
- Where
- 13 sites in United States
- Volunteers
- 49 people
- Sponsor
- CSL Behring
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
Bronchogenic Carcinoma, Chronic Granulomatous Disease
Diagnostic Effectiveness of Virtual Bronchoscopy
This study will evaluate a new technique for examining the air passages of the lungs called "virtual bronchoscopy." It involves using computed tomography (CT) images of the chest to generate a 3-dimensional model of the walls of…
- Conditions
- Bronchogenic Carcinoma, Chronic Granulomatous Disease, Job's Syndrome, Mycobacterium Infection
- Trial name
- NCT00001515
- Testing
- virtual bronchoscopy
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
ADA-SCID, Adenosine Deaminase Deficiency
EZN-2279 in Patients With ADA-SCID
The purpose of this study is to evaluate the safety, efficacy, and pharmacokinetics of EZN-2279 in patients with ADA-deficient combined immunodeficiency currently being treated with Adagen.
- Conditions
- ADA-SCID, Adenosine Deaminase Deficiency, Severe Combined Immunodeficiency
- Trial name
- NCT01420627
- Testing
- EZN-2279, Adagen
- Where
- 6 sites in United States
- Volunteers
- 7 people
- Sponsor
- Leadiant Biosciences, Inc.
Primary Immunodeficiency, Psoriasis
Metabolic Profiling of Immune Responses in Immune-mediated Diseases
Background: The immune system is the part of the body that fights infection. Some people have immune deficiencies that cause skin rashes, make them get sick often with infections, or make it difficult for their skin to heal.
- Conditions
- Primary Immunodeficiency, Psoriasis, Atopic Dermatitis, Immune-mediated Diseases
- Trial name
- NCT04864886
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Wiskott-Aldrich Syndrome
Haploidentical Hematopoietic Stem Cell Transplantation Patients With Wiskott-Aldrich Syndrome
Wiskott - Aldrich syndrome (WAS) is a rare disorder curable only through allogeneic hematopoietic stem cell transplantation. A mismatched family member is an option when no human leukocyte antigen (HLA-immune system type) matched…
- Trial name
- NCT00160355
- Testing
- Hematopoietic stem cell transplantation, Miltenyi CliniMACS selection system, Fludarabine, Melphalan, Thiotepa
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Severe Combined Immunodeficiency
Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector
Researchers are working on ways to treat SCID patients who don't have a matched brother or sister. One of the goals is to avoid the problems that happen with stem cell transplant from parents and unrelated people, such as repeat…
- Trial name
- NCT01129544
- Testing
- Gene transfer
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- David Williams
Hereditary Angioedema (HAE)
A Phase 2 in Adult Subjects With Hereditary Angioedema
A Phase 2 in Adult Subjects with Hereditary Angioedema
- Trial name
- HAE (NCT06846398)
- Testing
- BW-20805
- Where
- 18 sites in United States, China and 4 more
- Volunteers
- 25 people
- Sponsor
- Shanghai Argo Biopharmaceutical Co., Ltd.