VALIDATION OF THE INTERNATIONAL PAEDIATRIC MITOCHONDRIAL DISEASE SCORE

Completed

• Conditions: Mitochondrial disease; 10027424; disturbed cellular energy metabolism

• Registration Number: NL-OMON38747
• Lead Sponsor: niversitair Medisch Centrum Sint Radboud

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 8

Inclusion Criteria

1. 0 to 18 years of age
2. Mitochondrial disorder established by a confirmed mutation in mtDNA or nuclear DNA

Exclusion Criteria

- it is estimated that the study will be too burdensome to the patient
- insufficient knowledge of the Dutch language

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>The main study endpoints will be the (inter- and intrarater) reliability and<br /><br>(construct and external) validity of the IPMDS. </p><br>

Secondary Outcome Measures

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