RecruitingNCT04528355
Blood
Congenital Amegakaryocytic Thrombocytopenia
Also known as CAMT, amegakaryocytic thrombocytopenia, MPL deficiency
Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome caused by biallelic loss-of-function mutations in MPL, encoding the thrombopoietin receptor (c-Mpl), which is essential for megakaryocyte developme
ORPHA:3319 ↗Gene MPLPrevalence Fewer than 1 in 1,000,000; exact prevalence unknownOnset Neonatal period; thrombocytopenia present at birthAutosomal recessive
3
studies recruiting now
as of 7 Sept 2026
15
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
27 Aug 2020
most recent study posted
among recruiting studies
Recruiting trials
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Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
RecruitingPhase 2NCT04099966
AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Congenital Amegakaryocytic Thrombocytopenia
Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome caused by biallelic loss-of-function mutations in MPL, encoding the thrombopoietin receptor (c-Mpl), which is essential for megakaryocyte development and hematopoietic stem cell self-renewal. The disease presents at birth with severe isolated thrombocytopenia from near-complete absence of bone marrow megakaryocytes, and progresses in most patients during the first decade to pancytopenia and aplastic anemia as hematopoietic stem cell reserves are depleted. Hematopoietic stem cell transplantation is currently the only curative treatment, with gene therapy approaches under investigation.
Common clinical features
Severe thrombocytopenia present from birth with platelet counts often below 20,000/uLPetechiae, purpura, and mucosal bleeding in the neonatal periodIntracranial hemorrhage risk in severely thrombocytopenic neonatesAbsent or markedly reduced megakaryocytes on bone marrow biopsyProgressive development of pancytopenia in early childhoodNormal neurological development (distinguishing from some other thrombocytopenias)Absent platelet response to thrombopoietin stimulationRecurrent need for platelet transfusions
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Congenital Amegakaryocytic Thrombocytopenia. Not eligibility rules; those are set by each study.
- Biallelic MPL mutation identification with functional thrombopoietin receptor studies is required for diagnosis confirmation; type I mutations (null) generally have more severe disease and earlier progression than type II (partial loss of function).
- Progression to aplastic anemia typically occurs by age 5 in type I; bone marrow biopsy showing hypocellularity is a critical eligibility marker for HSC transplant trials.
- Alloantibody formation from prior platelet transfusions can complicate transplant eligibility; HLA typing and antibody screening should be performed and documented early.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).