NCT05012358

Brief Summary

This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks. Once consent is obtained, subjects will be asked to schedule an appointment with radiology to undergo the listed MRIs of the heart and/or muscle. Subjects will also be given instructions on how to use the video recording app on their personal devices, or study provided device. The subjects will be followed regularly over the course of two years, submitting video recordings of their movements and reporting to Mayo Clinic for MRIs as scheduled.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
9

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2022

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

August 12, 2021

Completed
7 days until next milestone

First Posted

Study publicly available on registry

August 19, 2021

Completed
9 months until next milestone

Study Start

First participant enrolled

May 1, 2022

Completed
1.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 22, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 22, 2024

Completed
Last Updated

June 12, 2024

Status Verified

June 1, 2024

Enrollment Period

1.7 years

First QC Date

August 12, 2021

Last Update Submit

June 11, 2024

Conditions

Mitochondrial MyopathiesMitochondrial DNA MutationMitochondrial DiseasesChronic Progressive External Ophthalmoplegia With MyopathyKearns-Sayre Syndrome

Keywords

Mitochondrial DNA deletion

Outcome Measures

Primary Outcomes (4)

  • Indicators of disease severity and progression - cardiac movement

    Establish the prevalence and severity of specific morbid indicators of disease severity through use of echocardiogram

    2 years

  • Indicators of disease severity and progression - cardiac function

    Establish the prevalence and severity of specific morbid indicators of disease severity through use of magnetic resonance imaging (MRI) of cardiac muscle

    2 years

  • Indicators of disease severity and progression - skeletal muscle function

    Establish the prevalence and severity of specific morbid indicators of disease severity through use of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of skeletal muscle

    2 years

  • Indicators of disease severity and progression - skeletal muscle movement

    Establish the prevalence and severity of specific morbid indicators of disease severity through use of video scoring scale during exercise

    2 years

Study Arms (1)

Observational Cohort

no intervention

Eligibility Criteria

Age15 Years - 80 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

All participants in the study should have genetic confirmation or muslce biopsy confirmation along with supporting clinical features of mitochondrial disease with weakness in muscle.

You may qualify if:

  • Confirmed or suspected primary mitochondrial disorder \*Suspected mitochondrial disorder would mean that the patient meets clinical criteria and has either biopsy or biochemical testing that supports the diagnosis.

You may not qualify if:

  • Pregnant, breastfeeding
  • Severe cardiac disease who are unable to undergo all the required testing
  • Requiring anesthesia for MRIs
  • Has severe claustrophobia
  • Has implanted devices

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55901, United States

Location

MeSH Terms

Conditions

Mitochondrial MyopathiesMitochondrial DiseasesKearns-Sayre Syndrome

Condition Hierarchy (Ancestors)

Muscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesOphthalmoplegia, Chronic Progressive ExternalOphthalmoplegiaOcular Motility DisordersCranial Nerve DiseasesParalysisNeurologic ManifestationsEye DiseasesRetinitis PigmentosaRetinal DystrophiesRetinal DegenerationRetinal DiseasesCardiomyopathiesHeart DiseasesCardiovascular DiseasesChronic DiseaseDisease AttributesPathologic ProcessesPathological Conditions, Signs and SymptomsSigns and Symptoms

Study Officials

  • Ralitza Gavrilova, MD

    Mayo Clinic

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate Professor of Medical Genetics and Neurology, College of Medicine

Study Record Dates

First Submitted

August 12, 2021

First Posted

August 19, 2021

Study Start

May 1, 2022

Primary Completion

January 22, 2024

Study Completion

January 22, 2024

Last Updated

June 12, 2024

Record last verified: 2024-06

Data Sharing

IPD Sharing
Will not share

Locations

US(1)