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Pearson SyndromeNCT05029843

SLSMDS Natural History Study

An observational study of Pearson Syndrome and Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS), run by The Champ Foundation at 2 sites in United States.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record
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Trial summary

The Single Large-Scale mtDNA Deletion Sydrome: Natural History Study (PS-NHS) aims to collect data on standardized clinical outcomes, store data on the Champ Foundation Registry (CFR) and make this data available to researchers, clinicians, and industry partners who are studying SLSMDS to answer questions regarding… Read more about this study

Who is it for?
Any age
How many people
30 participants
Where
2 sitesUnited States
Study dates
16 Mar 2021to 16 Oct 2024
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: All patients with confirmed Pearson Syndrome who satisfy the inclusion/exclusion criteria will be offered enrollment into this study.

Who may be able to join

  • Have an active account on the Champ Foundation Registry (CFR) or be willing to create an account on the CFR.
  • Must have a genetic diagnosis of a single large-scale mitochondrial DNA deletion and must upload their genetic report to the CFR.
  • Have a clinical diagnosis or history of Pearson syndrome OR have symptom onset prior to five years of age and a genetic diagnosis of a single large-scale mitochondrial DNA deletion OR in the opinion of the principal investigator the participant is suitable for participating in this study based on clinical presentation.
  • Participants may be of any age or gender, and originate from any country.

Who cannot join

None listed.

Trial locations and contacts

2 sites in 1 country.

Elizabeth Reynolds, PhD contact

727-612-4606

elizabeth.reynolds@thechampfoundation.org

United States2 sites, 2 recruiting

  • Cleveland Clinic

    Cleveland, Ohio, 44103

    Sumit Parikh, MD

    Recruiting

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104

    Marni Falk, MD

    Recruiting

Other trials in United States

About this study

Official title: Single Large-scale mtDNA Deletion Syndrome Natural History Study

The Single Large-Scale mtDNA Deletion Sydrome: Natural History Study (PS-NHS) aims to collect data on standardized clinical outcomes, store data on the Champ Foundation Registry (CFR) and make this data available to researchers, clinicians, and industry partners who are studying SLSMDS to answer questions regarding the disease, including its causes, potential treatments, and other topics. A secondary aim is to analyze the data to understand research questions relating to the natural history of SLSMDS.

Read the detailed description

This study is a prospective, observational, and longitudinal study intended to track the course of Pearson syndrome and single large scale mitochondrial DNA deletion syndromes (SLSMDS) to identify demographic, genetic, environmental, and other variables that correlate with the diseases development and outcomes. If available, retrospective clinical data may be accessed and used in analyses as well.

The PS-NHS will be conducted at two Center of Excellence sites: the Cleveland Clinic and Children's Hospital of Philadelphia (CHOP).

All PS-NHS data will be entered and stored on the CFR. The CFR exists entirely online.

Medical subject headings
VLCAD deficiency

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Columbia Neurological Scale

    The Columbia Neurological Scale is a neurological assessment that includes a general medical exam and a general neurological exam. It will take approximately 30 minutes to complete, and that includes evaluation of nerves, muscles and movement. Columbia Neurological Scale ranges from 0 (abnormal exam) to 76 (normal exam).

    Measured: 2 years

  2. PEDI-CAT assessment

    The PEDI-CAT is a computerized test that will ask participants about daily life tasks. This assessment will be given to patients 0 to 20 years old and will take approximately 15 minutes to complete.

    Measured: 2 years

  3. International Pediatric Mitochondrial Disease Scale

    The International Pediatric Mitochondrial Disease Scale is designed to monitor general disease progression associated with mitochondrial disease in children 0 to 18 years old. It includes a physical examination and evaluation of symptoms and functioning. The International Pediatric Mitochondrial Disease Scale will include a clinician-administered assessment that involves asking participants questions and evaluating participants' movements and responses, as well as a patient survey. The score is expressed as the percentage of items which were feasible to perform. Asterixes (*) can be scored as well, the total score will change accordingly. E.g. if the parents are not able to indicate the presence of headache, the maximum score of the first domain changes from 103 to 73. If the child is not cooperative during the execution of domain 2 and 3, these items are omitted from the total score.

    Measured: 2 years

  4. Scale for Assessment and Rating of Ataxia

    the SARA is a physical exam that evaluates symptoms of incoordination. A physician will complete this with exam and it will take approximately 20 minutes to complete.

    Measured: 2 years

  5. Balance test

    Standing balance test. May assessed with an accelerometer. Measured as time in seconds.

    Measured: 2 years

  6. Coordination test

    9-hold peg test. Measured as time in seconds.

    Measured: 2 years

  7. 2 or 6 minute walk test

    2-minute walk test (2MWT) ages 3-6 yrs. or 6MWT (ages 6+). Measured as distance in meters.

    Measured: 2 years

  8. Strength test

    Hand grip with Dynamometer. Measured as average value of lbs of grip strength.

    Measured: 2 years

  9. Hearing testing

    Assessing hearing frequency in both ears.

    Measured: 2 years

  10. EKG rhythm

    Measured: 2 years

  11. EKG PR interval

    Measured: 2 years

  12. EKG QRS interval

    Measured: 2 years

  13. Echo

    Assessing valve abnormalities

    Measured: 2 years

  14. BNP

    Measured as pg/ml

    Measured: 2 years

  15. Lipid panel

    Total cholesterol, HDL-C, LDL-C, triglycerides. Measured as mg/dL.

    Measured: 2 years

  16. Cortisol

    Measured mcg/dL

    Measured: 2 years

  17. PTH

    Measured as pg/mL

    Measured: 2 years

  18. Calcium

    Measured as pg/mL

    Measured: 2 years

  19. Vitamin D

    Measured ng/mL

    Measured: 2 years

  20. Growth hormone

    Measured ng/mL

    Measured: 2 years

  21. IGF1

    Measured ng/mL

    Measured: 2 years

  22. TSH

    Measured uIUg/mL

    Measured: 2 years

  23. FT4 and T3

    Measured ng/dL

    Measured: 2 years

  24. HbA1c

    Measured as a percentage

    Measured: 2 years

  25. C-peptide

    Measured ng/mL

    Measured: 2 years

  26. Fasting Plasma Glucose (FPG)

    Measured mg/dL

    Measured: 2 years

  27. Fructosamine

    Measured mcmol/L

    Measured: 2 years

  28. Amylase

    Measured U/L

    Measured: 2 years

  29. Comprehensive Metabolic Panel

    Electrolytes, transaminases, TP/Albumin, bilirubin, alk phos, creatinine, BUN, GFR. Measured mmol/L.

    Measured: 2 years

  30. Lipase

    Measured U/L

    Measured: 2 years

  31. PT/PTT

    Measured in seconds

    Measured: 2 years

  32. Stool elastase

    ug Elastase/g stool

    Measured: 2 years

  33. Height

    Assessed in cm

    Measured: 2 years

  34. Weight

    Assessed in kg

    Measured: 2 years

  35. Orbitofrontal cortex (OFC)

    Assessed in cm

    Measured: 2 years

  36. Complete blood count with differential

    Measured: 2 years

  37. Ferritin

    Measured in ng/mL

    Measured: 2 years

  38. Iron

    Measured ug/dL

    Measured: 2 years

  39. Reticulocytes

    Count (x10^9/uL)

    Measured: 2 years

  40. Reticulocytes

    Percentage

    Measured: 2 years

  41. Number of transfusions

    Frequency count of number of red blood transfusions and platelet transfusions

    Measured: 2 years

  42. Acylcarnitines (plasma)

    Measured as mcmol/L

    Measured: 2 years

  43. Amino acids (plasma and urine)

    Interpretation recorded.

    Measured: 2 years

  44. Organic acids (urine)

    Interpretation recorded.

    Measured: 2 years

  45. Lactate

    measured mmol/L

    Measured: 2 years

  46. Glutathione

    Measured uM

    Measured: 2 years

  47. GDF15

    pg/mL

    Measured: 2 years

  48. Visual exam

    Assessing palpebral fissure in mm; distance in mm; eye movement in mm

    Measured: 2 years

  49. ERG/OCT

    Assessed as normal or abnormal

    Measured: 2 years

  50. Ptosis/ophthalmoplegia

    Assessed in mm

    Measured: 2 years

  51. Cystatin C

    Measured mg/dL

    Measured: 2 years

  52. Magnesium

    Measured mg/dL

    Measured: 2 years

  53. Phosphate

    Measured mg/dL

    Measured: 2 years

  54. Urine Electrolytes

    Measured mg/dL

    Measured: 2 years

  55. Urine protein

    Measured mg/dL

    Measured: 2 years

  56. Urine amino acids

    Measured: 2 years

  57. Facial dysmorphology assessment

    Assessed with facial photography. Assessing ptosis and/or prominent cheeks/jowls.

    Measured: 2 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted1 Sep 2021
  2. Study start16 Mar 2021
  3. Primary completion16 Oct 2024 (estimated)
  4. Study completion16 Oct 2024 (estimated)

Resources

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
Cross-sectional
Enrolment
30 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05029843
Sponsor's protocol ID
CFR-02
Status last verified
Feb 2023
First submitted
11 Aug 2021
Last updated
8 Feb 2023
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No: The data obtained during the study may be available on reasonable request.

Questions about this trial

What is this clinical trial studying?

An observational study of Pearson Syndrome and Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS), run by The Champ Foundation at 2 sites in United States.

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 4 inclusion and 0 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: status not confirmed, as of the sponsor's last update on 8 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

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?

Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

Contact Elizabeth Reynolds, PhD (727-612-4606, elizabeth.reynolds@thechampfoundation.org), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Columbia Neurological Scale (time frame: 2 years). The study lists 57 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05029843.

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 8 Feb 2023.

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