Selecting Outcome measures for MITOchondrial disease in children: an explorative study

Completed

• Conditions: mitochondriopathy; energy metabolism disorders; 10000546

• Registration Number: NL-OMON43301
• Lead Sponsor: niversitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 10

Inclusion Criteria

-17 years old at the inclusion date
* Mitochondrial myopathy
o - Signs of myopathy on examination (muscle weakness, hypotonia) or testing (exercise intolerance).
o - No signs or history of encephalopathy (IQ < 80*, epilepsy, classical migraine, encephalopathy, psychiatric disorders**, autism**, spasticity, ataxia, extrapyrimidal signs, brainstem failure or abnormalities on MRI)
* tested only when struggling in main school, tests from *5 years accepted
** diagnosed by a paediatric psychiatrist
* A confirmed pathogenic mutation

Exclusion Criteria

* Insufficient knowledge of the Dutch language
* It is expected that the studies will be too burdensome for the patient or the family
* End-of-life expected within 3 months from the initiation of the study
* Other disabling disease
* Gluten allergy (for TOMASS cracker test only)

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Feasibility (primary endpoint; % of patients who were able to complete the<br /><br>test), reliability (inter-rater reliability, intra-rater reliability,<br /><br>test-retest reliability), and validity (correlation with predefined anchors and<br /><br>between parameters measuring the same construct) of all instruments tested in<br /><br>this study, per study group. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>NA</p><br>