The Champ Foundation

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Pearson Syndrome (PS) is a multi-system disease caused by a deletion in mitochondrial DNA. The hallmark features are sideroblastic anemia and pancreatic insufficiency. PS is often fatal in infancy. In addition to the hematological and pancreatic symptoms, PS can impair the heart, kidneys, eyes, ears and brain. Survivors develop Kearns-Sayre Syndrome.

Last updated 04/30/2026

Clinical

Disease Class

Inherited metabolic disorder

Mitochondrial disease

Body Systems

Cardiovascular / Circulatory

Digestive

Endocrine

Hematopoietic / Lymphatic / Immune

Integumentary / Exocrine

Metabolic

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Organs

Blood vessels (veins, arteries)

Bone marrow

Brain

Connective tissue / joints

Ears

Eyes

Heart

Intestines

Kidneys

Liver

Lungs

Lymph fluid, nodes, ducts, vessels

Muscles

Nose

Pancreas

Parathyroid

Skin

Stomach

Throat/pharynx

Thyroid

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

None specified / unknown

Contributory Genes

None specified / unknown

Type of Inheritance

De novo

Mitochondrial

Newborn Screening

Disease Mechanism(s)

Mitochondrial defects

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Average Age at Diagnosis

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

101-1000

Global Prevalence

Unknown

National Incidence

Less than 10

Global Incidence

Less than 10

Symptoms / Phenotypes

anemia

diabetes

diarrhea

failure to thrive

fatigue

pain, abdominal

Biomarkers

None

Existing Therapies

Expanded access (Compassionate Use)

Regulatory Agency-Approved for Symptom Relief

· Given the extent of symptoms children have, there are definitely approved treatments for symptoms (e.g., anti-nausea meds, feeding tubes, pace maker surgery, pancreatic enzymes, etc) but none address the underlying mitochondrial disease .

Therapies in Development

Gene therapy

Other (please specify)

· Mitochondrial augmentation therapy

Repurposed drug

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

Therapeutic Development Role

Access to registry or natural history study

Data sharing

Focus group participation or coordination

Funding

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Sample provision

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

iPSCs

Cell Lines, Institution

Boston Children's Hospital

Cell Lines, Involvement

Consulted

Funded

Cell Lines, share

Some of our cell lines are freely available

Disease Model

C. elegans

Mouse

Disease Model, Involvement

Consulted

Funded

Disease Model, share

Unsure

Organizational Challenges

Identifying new industry partners who are interested in SLSMDS

Clinical Trial Role

Data analysis

Data sharing

Funding

Meeting with regulators

Outcome measures, development

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Results dissemination, publication

Study material design, review (not protocol)

Study protocol design, review

Travel coordination

Clinical Trial Types

Observational

Phase 1

Phase 2

Biobank, Institution

Boston Children's Hospital

Biobank, Involvement

Designed

Funded

Center of Excellence, Institution

Children’s Hospital of Philadelphia (CHOP)

Cleveland Clinic

Center of Excellence, Involvement

Consulted

Designed

Endorsed/Certified/Accredited

Funded

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Both

Platform, Registry

Ordinal Data

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

Ordinal Data

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

No, we do not have any ICD codes

Diagnostic Guidelines

In the process of creating formal diagnostic guidelines for publication in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

We don't have a Research Roadmap

None

Europe

North America

Oceania

Europe

North America

Oceania