Hoyeraal-Hreidarsson syndrome
MONDO:0018045Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
Also known as: progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome, Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia, Hoyeraal Hreidarsson syndrome
36 clinical trials for this condition and its sub-types, 3 tagged with Hoyeraal-Hreidarsson syndrome itself.
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Could a simple sugar pill fix faulty telomeres? early trial launches
Disease control Recruiting nowThis early-stage trial is testing whether a combination of two natural substances, deoxycytidine and deoxythymidine, is safe for people with telomere biology disorders. These rare genetic conditions cause premature aging, bone marrow failure, and lung scarring. Up to 36 participa…
Phase 1 • Sponsor: Suneet Agarwal • Aim: Disease control
Last updated Aug 06, 2026 00:00 UTC
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New transplant approach aims to fix broken immune systems
Disease control Recruiting nowThis phase 2 trial is testing a stem cell transplant using a milder chemotherapy regimen to treat people with severe immune deficiencies and inherited bone marrow failure. The goal is to see if donor cells can safely take over and rebuild a healthy immune system. Up to 27 partici…
Phase 2 • Sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins • Aim: Disease control
Last updated Jun 27, 2026 08:00 UTC