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congenital amegakaryocytic thrombocytopenia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital amegakaryocytic thrombocytopenia

MONDO:0800451

Overview

TreatmentsNo approved treatments · 2 in pipeline

Diagnosis

Biomarker and diagnostic research for congenital amegakaryocytic thrombocytopenia has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for congenital amegakaryocytic thrombocytopenia. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for congenital amegakaryocytic thrombocytopenia, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for congenital amegakaryocytic thrombocytopenia. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital amegakaryocytic thrombocytopenia.

16 publications have been identified in PubMed for congenital amegakaryocytic thrombocytopenia. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (15%), and Other (8%).

Research Type	Count	% of Total
Patient case studies	7	54%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→What is the current development status of platelets produced in vitro from proplatelets derived from peripheral blood, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

congenital amegakaryocytic thrombocytopenia

Overview

Diagnosis

Treatment

Orphan Drug Designations

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

congenital amegakaryocytic thrombocytopenia

Overview

Diagnosis

Treatment

Orphan Drug Designations

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications