Clinical trials: Blau Syndrome
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Blau Syndrome
Efficacy and Safety of Tofacitinib in Refractory Blau Syndrome
This is a prospective cohort study to observe the efficacy and safety of Tofacitinib in children with Blau syndrome (BS). The investigators would analyze the rate of remission or low disease activity after treatment as well as…
- Trial name
- NCT06660329
- Testing
- Janus Kinase Inhibitor
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Peking Union Medical College Hospital
Inflammatory Bowel Diseases, Blau Syndrome
Phase 1 Study to Investigate OD-07656 in Healthy Adult Participants
First-in-human study to provide an assessment of the safety, tolerability, pharmacokinetics (PK), including food effects and a drug-drug interaction, and pharmacodynamics (PD) of OD-07656 after administration of ascending single…
- Conditions
- Inflammatory Bowel Diseases, Blau Syndrome, Crohn Disease, Ulcerative Colitis
- Trial name
- NCT06206811
- Testing
- OD-07656
- Where
- Australia
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Odyssey Therapeutics, Inc.
XLA, CVID
Immune Regulation in Patients With Common Variable Immunodeficiency and Related Inborn Errors of Immunity (IEI)
This study aims to understand the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity (IEI).
- Conditions
- XLA, CVID, Yao Syndrome, Blau Syndrome
- Trial name
- NCT00001244
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Blau Syndrome
Effective Treatment of Jak1/3 Inhibitor in Blau Syndrome
To investigate the effectiveness of the JAK 1/3 inhibitor tofacitinib in treating Blau syndrome and explore the association between various clinical and genetic features and therapeutic responses within the cohort.
- Trial name
- inapplicable (NCT06688838)
- Testing
- Tofacitinib
- Where
- China
- Volunteers
- 24 people
- Sponsor
- Tongji Hospital