About Pearson Syndrome
Pearson syndrome is a rare, usually fatal disorder of infancy caused by large-scale deletions of mitochondrial DNA, characterised by refractory sideroblastic anaemia with vacuolisation of marrow precursors and exocrine pancreatic dysfunction. Children who survive the haematological phase often show partial haematopoietic improvement, but may subsequently develop features of Kearns-Sayre syndrome as the mitochondrial deletion persists in other tissues. Supportive care, including transfusions and pancreatic enzyme replacement, is the mainstay of management.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Pearson Syndrome trials.
Bone marrow biopsy confirming vacuolisation and ringed sideroblasts, together with mtDNA deletion analysis, are required for definitive diagnosis and trial enrolment.
Due to extreme rarity, trials may be conducted under compassionate use or expanded access frameworks; contact the treating centre and the UMDF for guidance on access programmes.
Transfusion dependency and haematological status at the time of screening are key eligibility variables; maintain accurate transfusion records.
Patient Resources
Find recruiting Pearson Syndrome trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Pearson Syndrome. Updated daily.