RecruitingNCT05554835
Mitochondrial
Pearson Syndrome
Also known as Pearson marrow-pancreas syndrome, sideroblastic anemia with exocrine pancreatic dysfunction
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 dysfunctio
ORPHA:699 ↗Gene mtDNA deletionPrevalence Fewer than 100 cases reported; extremely rareOnset Neonatal / Infancy
3
studies recruiting now
as of 7 Sept 2026
8
studies registered in total
as of 7 Sept 2026
6
countries with a recruiting site
as of 7 Sept 2026
30 Aug 2023
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01694940
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
RecruitingPhase 2NCT06017869
Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
Search all Pearson Syndrome studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Pearson Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
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
Transfusion-dependent sideroblastic anaemia in infancyVacuolisation of bone marrow precursorsExocrine pancreatic insufficiency with malabsorptionLactic acidosisHepatic dysfunctionFailure to thriveRisk of progression to Kearns-Sayre syndrome
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Vatiquinone
Before you apply
Things trial teams commonly ask about for Pearson Syndrome. Not eligibility rules; those are set by each study.
- 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.
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).