Clinical trials: Primary Immune Deficiency Disorders
Primary Immunodeficiency
A Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL Administered With Two Different Delivery Devices: Injections Using Pump or Rapid Push
A randomised, cross-over study to compare quality of life and satisfaction in primary immunodeficient patients treated with subcutaneous injections of Gammanorm® 165 mg/mL administered with two different delivery devices…
- Trial name
- NCT02503293
- Testing
- Chrono Super PID then Generic Syringe-Gammanorm, Generic Syringe then Chrono Super PID-Gammanorm
- Where
- 12 sites in Australia, Germany and 2 more
- Volunteers
- 30 people
- Sponsor
- Octapharma
Hereditary Angioedema
A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase
The objectives of the study are to: 1. Evaluate the safety and tolerability of subcutaneously administered CINRYZE with recombinant human hyaluronidase (rHuPH20) in subjects with hereditary angioedema (HAE) who previously…
- Trial name
- NCT01426763
- Testing
- CINRYZE with rHuPH20
- Where
- 4 sites in United States
- Volunteers
- 12 people
- Sponsor
- Shire
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
Pancreatic Neoplasms, Peutz-Jegher's Syndrome
Pancreatic Cancer Screening of High-Risk Individuals in Arkansas
100 subjects who have a family history of pancreatic cancer (PC), or known genetic syndromes associated with increased risk of pancreatic cancer, will be followed for five years.
- Conditions
- Pancreatic Neoplasms, Peutz-Jegher's Syndrome, BRCA1 Gene Mutation, BRCA2 Gene Mutation
- Trial name
- NCT02309632
- Testing
- Pancreatic Cancer Screening Pathway 1, Pancreatic Cancer Screening Pathway 2
- Where
- United States
- Sponsor
- University of Arkansas
HIV, AIDS
Effectiveness of a Smoking Cessation Algorithm Integrated Into HIV Primary Care
To determine the efficacy of an algorithm designed to recommend smoking cessation-related pharmacotherapy options to the primary care providers of smokers living with HIV/AIDS.
- Conditions
- HIV, AIDS, Smoking Cessation
- Trial name
- NCT03670316
- Testing
- Algorithm Treatment, Quitline only
- Where
- United States
- Volunteers
- 371 people
- Sponsor
- University of Alabama at Birmingham
Immunologic Deficiency Syndrome
Genetic Basis of Primary Immunodeficiencies
The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor…
- Trial name
- NCT00001788
- Where
- United States
- Volunteers
- 119 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Hereditary Angioedema Type I and II
Global Registry to Gather Data on Natural History of Patients With Hereditary Angioedema Type I and II
The objective of this international hereditary angioedema (HAE) register is to collect homogeneous clinical and laboratory data on patients with HAE type I and II gathering better information on the natural course of the disease…
- Trial name
- HGR (NCT03828279)
- Testing
- functional and antigenic C1 inhibitor
- Where
- Italy
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- HAE Global Registry Foundation
Hereditary Angioedema
C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks
The study objective was to determine the safety and efficacy of C1INH-nf for the prevention of acute HAE attacks.
- Trial name
- NCT01005888
- Testing
- C1 esterase inhibitor [human] (C1INH-nf)
- Where
- 16 sites in United States
- Volunteers
- 26 people
- Sponsor
- Shire
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
Non-Neoplastic Hematologic and Lymphocytic Disorder
Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders
This phase II clinical trial studies how well treosulfan and fludarabine phosphate with or without low dose radiation before donor stem cell transplantation works in treating patients with nonmalignant (noncancerous) diseases.
- Trial name
- NCT00919503
- Testing
- Allogeneic Bone Marrow Transplantation, Anti-Thymocyte Globulin, Cyclosporine
- Where
- 6 sites in United States
- Volunteers
- 98 people
- Sponsor
- Fred Hutchinson Cancer Center
HIV Infection
The Effect of Raltegravir on HIV Decay During Primary and Chronic Infection
The purpose of this study is to measure the decay characteristics of HIV in the blood of patients after taking a combination of anti-HIV drugs, which includes a new class of anti-HIV drug, an integrase inhibitor.
- Trial name
- PINT (NCT00641641)
- Testing
- Tenofovir + emtricitabine + raltegravir.
- Where
- 4 sites in Australia
- Volunteers
- 16 people
- Sponsor
- Kirby Institute
Primary Antibody Deficiency Disorders
Exercise Intervention and Immunodeficiency
The purpose of this study is to assess if a 12-week exercise program is safe, practical, and acceptable for adults with primary antibody deficiencies.
- Trial name
- NCT07698197
- Testing
- App-based exercise intervention
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Yale University
HIV/AIDS and Infections
A Randomised Placebo Controlled Trial of ART Plus Dual Long-acting HIV-specific Broadly Neutralising Antibodies (bNAbs).
RIO is a placebo-controlled double-blinded two arm prospective phase II randomised controlled trial . This study will test the use of broadly neutralising antibodies (bNAbs) in participants with treated primary HIV infection…
- Trial name
- RIO (NCT04319367)
- Testing
- Investigational Medicinal Product
- Where
- 12 sites in Denmark, United Kingdom
- Volunteers
- 72 people
- Sponsor
- Imperial College London
Kidney Transplant
Improving Deceased-Donor Kidney Transplant Outcomes Via a Single Intragraft Injection of C1 Esterase Inhibitor (IMPROVE TRIAL)
The purpose of this study is to find out if Berinert can improve kidney function in the first year after transplant and to find out what effects, good or bad, Berinert will have in the kidney recipient.
- Trial name
- IMPROVE (NCT06919003)
- Testing
- Berinert
- Where
- 4 sites in United States
- Volunteers
- 180 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Leukocyte Adhesion Deficiency Syndrome
Interferon Gamma to Treat Leukocyte Adhesion Deficiency Type I
This study will evaluate the safety and effectiveness of the drug, interferon gamma, in treating leukocyte adhesion deficiency type I (LAD I).
- Trial name
- NCT00001905
- Testing
- Interferon gamma
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Hereditary Angioedema
Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks
HAE is a rare disorder characterized by functional C1 esterase inhibitor deficiency. If not treated adequately, the acute attacks of HAE can be life-threatening and may even result in fatalities, especially in case of swelling of…
- Trial name
- NCT00168103
- Testing
- C1 Esterase Inhibitor
- Where
- 36 sites in United States, Argentina and 13 more
- Volunteers
- 126 people
- Sponsor
- CSL Behring
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
HIV Infections
Anti-HIV Medications for People Recently Infected With HIV
It is not known if anti-HIV treatment for recently infected patients improves long-term patient prognosis. The purpose of this study is to determine if a one year course of anti-HIV medications slows progression of HIV disease in…
- Trial name
- NCT00106171
- Testing
- Highly active antiretroviral therapy (HAART)
- Where
- 5 sites in United States, Canada
- Volunteers
- 113 people
- Sponsor
- Johns Hopkins Bloomberg School of Public Health
Wiskott-Aldrich Syndrome, Thrombocytopenia
Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients
The purpose of this project is to describe the pathophysiology of thrombocytopenia and bleeding in patients with Wiskott-Aldrich Syndrome (WAS) and determine the response to thrombopoietic agents in vitro and in vivo.
- Conditions
- Wiskott-Aldrich Syndrome, Thrombocytopenia, Bleeding
- Trial name
- WAS (NCT00909363)
- Testing
- Promacta, blood drawing in patients with WAS, blood drawing in healthy controls
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University