Congenital amegakaryocytic thrombocytopenia 1
MONDO:0800452A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
Also known as: CAMT1, amegakaryocytic thrombocytopenia, congenital 1, thrombocytopenia, congenital amegakaryocytic, thrombocytopenia congenital amegakaryocytic
5 clinical trials for this condition and its sub-types, 3 tagged with Congenital amegakaryocytic thrombocytopenia 1 itself.
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Milder chemo before stem cell transplant shows promise for rare blood disorders
Disease control Recruiting nowThis study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…
Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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Milder transplant method aims to help young patients with rare blood diseases
Disease control Recruiting nowThis study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…
Phase 2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
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Scientists hunt for clues to fatigue in Low-Platelet patients
Knowledge-focused Recruiting nowThis study looks for substances in the blood that might be linked to fatigue in people with low platelet counts (thrombocytopenia). Researchers think a protein called BDNF, which is stored in platelets, could play a role. They will measure BDNF levels in 280 patients and healthy …
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC