Selecting Outcome measures for MITOchondrial disease in children (the SO-MITO study)

Withdrawn

Conditions: Mitochondrial disease
10021605

Registration Number: NL-OMON38137

Lead Sponsor: niversitair Medisch Centrum Sint Radboud

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Withdrawn

Sex: Not specified

Target Recruitment: 150

Inclusion Criteria

* 2-17 years old at the inclusion date and
* Biochemical group (see paragraph 4.2.2 of the protocol)
o mitochondrial dysfunction in muscle biopsy AND a mitochondrial phenotype and/or
o a confirmed pathogenic mutation, in case of mtDNA mutation in sufficient heteroplasmy to explain phenotype, agreement on pathogenicity between two physicians working in different centres
* Syndromal group (see paragraph 4.2.1 of the protocol)
o Fulfilling the criteria of the specific syndrome
o A confirmed pathogenic mutation or biochemical defect (only in Leigh)

Exclusion Criteria

* Insufficient knowledge of the native language spoken in the hospital the child is seen in
* 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

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Per test, per patient group:<br /><br>* The percentage of patients who were able to complete the test<br /><br>* The inter-rater reliability of one assessor<br /><br>* The intra-rater reliability of two assessors<br /><br>* The test-retest reliability after two weeks<br /><br>* The correlation between parameters pre-specified per disorder (see paragraph<br /><br>7.1)<br /><br>* The correlation between these parameters over time (including a VAS-score for<br /><br>the patients and parents experience on disease severity and disease<br /><br>progression)</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Per patient group:<br /><br>* The SD and clinically significant difference (minimal important change; * 2<br /><br>points difference on the 11-item VAS scale of disease severity of both patient<br /><br>and parents and/ or * 2 point difference on the 11 item VAS-scale of disease<br /><br>progression of both patient and parents in the same direction as the effect of<br /><br>the study parameter) of the two most reliable instruments<br /><br>* The time to complete the inclusion of all patients (calculated from the day<br /><br>the study starts recruiting).<br /><br>* A description of the clinical symptoms, with focus on the functional<br /><br>abilities and challenges<br /><br>* The correlation between the concentration of several biomarkers and<br /><br>functional abilities and general disease severity</p><br>