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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.
34 clinical trials registered, 22 recruiting. Interventions under study include other interventions, drug therapy, biologic therapy, and medical devices. Pipeline includes 2 PHASE4, 1 PHASE3, 3 PHASE2. 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 Nov 4, 2026, 6:12 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 |
[NCT05646394](https://clinicaltrials.gov/study/NCT05646394) | Registry on Augmented Antithrombotic Treatment Regimens for Patients With Arterial Thrombotic APS | — | McMaster University | 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 |
[NCT06379646](https://clinicaltrials.gov/study/NCT06379646) | An Clinical Study of YTS109 Cell Injection in Subjects With Recurrent/Refractory Autoimmune Disease | NA | 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 Oct 16, 2026
A recent study identifies significant diagnostic testing gaps for antiphospholipid syndrome within a healthcare system. This research highlights the need for improved testing protocols to enhance diagnosis and treatment.
A recent study published in PubMed explores the epidemiology and outcomes of antiphospholipid syndrome in the context of evolving diagnostic criteria. The findings contribute to a better understanding of this rare disease and its impact on patient outcomes.
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 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.