Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding congenital amegakaryocytic thrombocytopenia is limited primarily due to its rarity, which affects fewer than a few thousand individuals worldwide. This rarity results in insufficient systematic clinical studies and a lack of comprehensive characterization of the condition's clinical features.
To navigate congenital amegakaryocytic thrombocytopenia, consider seeking a hematologist with expertise in platelet disorders. Engaging with clinical trials may provide access to cutting-edge treatments and contribute to research. You can explore opportunities for participation in clinical trials through ClinicalTrials.gov. Additionally, genetic counseling may be beneficial, especially given the involvement of the MPL gene. The National Society of Genetic Counselors offers a directory at findageneticcounselor.com to help you find a specialist.
There are currently six active clinical trials related to congenital amegakaryocytic thrombocytopenia, exploring various treatment options. Notably, orphan drugs such as megatemlocel and innovative therapies involving platelets produced in vitro from proplatelets derived from peripheral blood are in development. For more information on ongoing trials, visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=congenital%20amegakaryocytic%20thrombocytopenia.
Actionable guidance for navigating care for congenital amegakaryocytic thrombocytopenia
To navigate congenital amegakaryocytic thrombocytopenia, consider seeking a hematologist with expertise in platelet disorders. Engaging with clinical trials may provide access to cutting-edge treatments and contribute to research. You can explore opportunities for participation in clinical trials through ClinicalTrials.gov. Additionally, genetic counseling may be beneficial, especially given the involvement of the MPL gene. The National Society of Genetic Counselors offers a directory at findageneticcounselor.com to help you find a specialist.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.