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Autosomal dominant form of antiphospholipid syndrome.
Features include: Central retinal artery occlusion, Retinal vasculitis, Visual loss, and Retinal detachment and 9 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Central retinal artery occlusion, Retinal vasculitis, Retinal detachment |
Biomarker and diagnostic research for familial antiphospholipid syndrome has been reported in the published literature.
33 clinical trials registered, 14 recruiting. Interventions under study include other interventions, drug therapy, biologic therapy, and medical devices. Pipeline includes 2 PHASE4, 3 PHASE2, 3 PHASE1. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT07236801](https://clinicaltrials.gov/study/NCT07236801) |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:00 AM UTC
Online Mendelian Inheritance in Man
2 |
Retinal vasculitis, Autoimmune thrombocytopenia |
Exploratory Clinical Study on YTS109 Cell Therapy for Autoimmune Diseases |
PHASE1 |
China Immunotech (Beijing) Biotechnology Co., Ltd. |
RECRUITING |
[NCT06794008](https://clinicaltrials.gov/study/NCT06794008) | BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases | PHASE2 | Peking University People's Hospital | RECRUITING |
[NCT05199909](https://clinicaltrials.gov/study/NCT05199909) | Safety and Efficacy of Zanubrutinib in the Treatment of Antiphospholipid Syndrome With Secondary Thrombocytopenia | PHASE2 | Institute of Hematology & Blood Diseases Hospital, China | RECRUITING |
[NCT07251179](https://clinicaltrials.gov/study/NCT07251179) | Characterization of Autoreactive b Lymphocytes in Autoimmune Diseases and Immune Deficiencies | — | University Hospital, Strasbourg, France | RECRUITING |
[NCT07236762](https://clinicaltrials.gov/study/NCT07236762) | An Exploratory Clinical Study of YTS109 Cell for R/R Autoimmune Diseases | PHASE1 | China Immunotech (Beijing) Biotechnology Co., Ltd. | RECRUITING |
8 publications have been identified in PubMed for familial antiphospholipid syndrome. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Diagnostic / Biomarker (13%).
Jiménez-Soto R (2026). [PMID: 41606985](https://pubmed.ncbi.nlm.nih.gov/41606985/). *Lupus*. [Epidemiology / Natural History]
Kontogiannis A (2026). [PMID: 41547043](https://pubmed.ncbi.nlm.nih.gov/41547043/). *J Reprod Immunol*. [Review / Meta-Analysis]
Su X (2025). [PMID: 40831950](https://pubmed.ncbi.nlm.nih.gov/40831950/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Khamashta M (2024). [PMID: 39174147](https://pubmed.ncbi.nlm.nih.gov/39174147/). *Med Clin (Barc)*. [Review / Meta-Analysis]
Al-Mayouf SM (2024). [PMID: 38957362](https://pubmed.ncbi.nlm.nih.gov/38957362/). *J Rheum Dis*. [Diagnostic / Biomarker]
Rahman AU (2024). [PMID: 39399194](https://pubmed.ncbi.nlm.nih.gov/39399194/). *J Community Hosp Intern Med Perspect*. [Case Report / Case Series]
Bernardi M (2024). [PMID: 38892776](https://pubmed.ncbi.nlm.nih.gov/38892776/). *J Clin Med*. [Review / Meta-Analysis]
Mohtashim A (2024). [PMID: 38694373](https://pubmed.ncbi.nlm.nih.gov/38694373/). *Ann Med Surg (Lond)*. [Review / Meta-Analysis]
AI-curated news mentioning familial antiphospholipid syndrome
Updated Sep 16, 2026
Recent research highlights the dysfunction of the protein C pathway in antiphospholipid syndrome, suggesting potential new therapeutic avenues. This study may pave the way for innovative treatments targeting this pathway.
A study involving 351 patients reveals that immune thrombocytopenia is rare among those with antiphospholipid syndrome who do not have systemic lupus erythematosus. This finding may influence clinical approaches to managing these patients.
A 47-year-old woman in Germany was cured of three severe autoimmune diseases—autoimmune hemolytic anemia, immune thrombocytopenia, and antiphospholipid syndrome—using CAR-T cell therapy, traditionally used for blood cancers. This breakthrough highlights the potential of CAR-T therapy beyond oncology, offering new hope for patients with refractory autoimmune conditions.
A recent study published in PubMed evaluates the criterion validity of the EULAR Antiphospholipid Syndrome Disease Activity Score (EAPSDAS). This research aims to enhance the assessment of disease activity in patients with antiphospholipid syndrome.