Pearson SyndromeNCT02327364
Natural History of Pearson Syndrome
An observational study of Pearson Syndrome, run by Sumit Parikh.
Trial summary
The purpose of this 3-year, multi-site, non-randomized, prospective, observational study is to characterize the natural history of Pearson Syndrome. The Syndrome is a rare mitochondrial disorder due to a large-scale mtDNA deletion. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pearson Syndrome
- How many people
- 11 participants
- Where
- No sites listed yet
- Study dates
- Mar 2014to Aug 2020
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with confirmed Pearson Syndrome
Who may be able to join
- All individuals of any age with confirmed Pearson Syndrome are eligible to participate. Pearson Syndrome requires the presence of a large-scale mtDNA deletion along with sideroblastic anemia with or without pancreatic insufficiency.
- All patients must agree to participate in the NAMDC Clinical Registry
Who cannot join
- Patient does not fulfill criteria for Pearson Syndrome
- Not willing to participate in the NAMDC clinical Registry
About this study
Official title: Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC)
The purpose of this 3-year, multi-site, non-randomized, prospective, observational study is to characterize the natural history of Pearson Syndrome. The Syndrome is a rare mitochondrial disorder due to a large-scale mtDNA deletion. Children typically present in their 1st two years of life (most in infancy) with anemia and/or pancreatitis. Most individuals with Pearson Syndrome die in childhood. Those who survive evolve to Kearns-Sayre Syndrome/Chronic Progressive External Ophthalmoplegia (KSS/CPEO) although accurate survival estimates are not yet known.
Read the detailed description
All patients with confirmed Pearson Syndrome who satisfy the inclusion/exclusion criteria will be offered enrollment into this study. Patients followed at participating NAMDC clinical sites will be enrolled at those sites. Patients who are not followed at participating NAMDC clinical sites and wish to participate may contact one of the member sites directly or their local doctor may direct them to one of the member sites. Both male and female patients from all racial and ethnic backgrounds who satisfy the inclusion and exclusion criteria will be encouraged to participate. Children and adults will be eligible to be enrolled, but we expect the patient population to be mostly children.
Each patient with Pearson Syndrome who enrolls in the NAMDC Clinical Registry will be encouraged to participate in this study. Each patient enrolling in this study will be required to enroll in the NAMDC Clinical Registry either prior to or upon enrolling in this study. Demographic, medical history, biochemical, histological, genetic, and other clinical data from the registry will be incorporated into this study.
Every effort will be made to minimize the inconvenience to patients of participating in this study. The study-related activities at each patient visit will be kept to a maximum of one hour, and will, whenever possible, be scheduled to coincide with the patient's regular follow-up with his or her treating physician. This study is observational and has no associated medical procedures.
- Conditions
- Pearson Syndrome
- Medical subject headings
- VLCAD deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
Track patients with Pearson Syndrome longitudinally
Measured: 3 years
Secondary outcomes (1)
Determine genetic and clinical predictors of Pearson Syndrome course
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Dec 2014 (estimated)
- Study startMar 2014
- Primary completionAug 2020
- Study completionAug 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pearson SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 11 participants (actual)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Sumit Parikh
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH)
- Responsible party
- Sponsor-investigator, Sumit Parikh, The Cleveland Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02327364
- Sponsor's protocol ID
- NAMDC7408
- Status last verified
- Aug 2020
- First submitted
- 22 Dec 2014
- Last updated
- 3 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC)
- ClinicalTrials.gov ID
- NCT02327364
- Acronym / sponsor ID
- NAMDC7408
- Conditions
- Pearson Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Sumit ParikhUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH)
- Study start
- Mar 2014
- Primary completion
- Aug 2020 (actual)
- Study completion
- Aug 2020 (actual)
- First posted
- 30 Dec 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this 3-year, multi-site, non-randomized, prospective, observational study is to characterize the natural history of Pearson Syndrome. The Syndrome is a rare mitochondrial disorder due to a large-scale mtDNA deletion. Children typically present in their 1st two years of life (most in infancy) with anemia and/or pancreatitis. Most individuals with Pearson Syndrome die in childhood. Those who survive evolve to Kearns-Sayre Syndrome/Chronic Progressive External Ophthalmoplegia (KSS/CPEO) although accurate survival estimates are not yet known.
Detailed description
All patients with confirmed Pearson Syndrome who satisfy the inclusion/exclusion criteria will be offered enrollment into this study. Patients followed at participating NAMDC clinical sites will be enrolled at those sites. Patients who are not followed at participating NAMDC clinical sites and wish to participate may contact one of the member sites directly or their local doctor may direct them to one of the member sites. Both male and female patients from all racial and ethnic backgrounds who satisfy the inclusion and exclusion criteria will be encouraged to participate. Children and adults will be eligible to be enrolled, but we expect the patient population to be mostly children.
Each patient with Pearson Syndrome who enrolls in the NAMDC Clinical Registry will be encouraged to participate in this study. Each patient enrolling in this study will be required to enroll in the NAMDC Clinical Registry either prior to or upon enrolling in this study. Demographic, medical history, biochemical, histological, genetic, and other clinical data from the registry will be incorporated into this study.
Every effort will be made to minimize the inconvenience to patients of participating in this study. The study-related activities at each patient visit will be kept to a maximum of one hour, and will, whenever possible, be scheduled to coincide with the patient's regular follow-up with his or her treating physician. This study is observational and has no associated medical procedures.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with confirmed Pearson Syndrome
Key inclusion criteria (2 listed)
- All individuals of any age with confirmed Pearson Syndrome are eligible to participate. Pearson Syndrome requires the presence of a large-scale mtDNA deletion along with sideroblastic anemia with or without pancreatic insufficiency.
- All patients must agree to participate in the NAMDC Clinical Registry
Key exclusion criteria (2 listed)
- Patient does not fulfill criteria for Pearson Syndrome
- Not willing to participate in the NAMDC clinical Registry
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Track patients with Pearson Syndrome longitudinally
Time frame: 3 years
1 secondary outcome
Determine genetic and clinical predictors of Pearson Syndrome course
Time frame: 3 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Nov 2025.
Related trials for Pearson Syndrome
Enrolling by invitation
Investigation of the Treatment of Patients With Mitochondrial Defects by Assisted Reproductive Technology
Pearson Syndrome, Mitochondria DNA Deletion
RecruitingPhase 2
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)
Mitochondrial Diseases, Pearson Syndrome
RecruitingObservational study
Global Registry and Natural History Study for Mitochondrial Disorders
Mitochondrial Diseases, Kearns-Sayre Syndrome
RecruitingObservational study
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Mitochondrial Disorders, Mitochondrial Genetic Disorders
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Pearson Syndrome, run by Sumit Parikh.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Track patients with Pearson Syndrome longitudinally (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Nov 2025.