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Multicenter Study
. 2016 Sep;39(5):705-712.
doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9.

International Paediatric Mitochondrial Disease Scale

Saskia Koene  1 , Jan C M Hendriks  2 , Ilse Dirks  3 , Lonneke de Boer  3 , Maaike C de Vries  3 , Mirian C H Janssen  3 , Izelle Smuts  4 , Cheuk-Wing Fung  5 , Virginia C N Wong  5 , I René F M de Coo  6 , Katharina Vill  7 , Claudia Stendel  8   9 , Thomas Klopstock  8   9   10 , Marni J Falk  11 , Elizabeth M McCormick  12 , Robert McFarland  13 , Imelda J M de Groot  3   14 , Jan A M Smeitink  3
Affiliations
Multicenter Study

International Paediatric Mitochondrial Disease Scale

Saskia Koene et al. J Inherit Metab Dis. 2016 Sep.

Erratum in

Abstract

Objective: There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) during a Delphi-based process with input from international collaborators, patients and caretakers, as well as a pilot reliability study in eight patients. Subsequently, we aimed to test the feasibility, construct validity and reliability of the IPMDS in a multicentre study.

Methods: A clinically, biochemically and genetically heterogeneous group of 17 patients (age 1.6-16 years) from five different expert centres from four different continents were evaluated in this study.

Results: The feasibility of the IPMDS was good, as indicated by a low number of missing items (4 %) and the positive evaluation of patients, parents and users. Principal component analysis of our small sample identified three factors, which explained 57.9 % of the variance. Good construct validity was found using hypothesis testing. The overall interrater reliability was good [median intraclass correlation coefficient for agreement between raters (ICCagreement) 0.85; range 0.23-0.99).

Conclusion: In conclusion, we suggest using the IPMDS for assessing natural history in children with mitochondrial diseases. These data should be used to further explore construct validity of the IPMDS and to set age limits. In parallel, responsiveness and the minimal clinically important difference should be studied to facilitate sample size calculations in future clinical trials.

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Conflict of interest statement

Study fundingThe work of SK and JS was sponsored by ZonMW (The Netherlands Organization for Health Research and Development).Conflict of interestThis study was sponsored by ZonMW (The Netherlands Organization for Health Research and Development)Drs. Saskia Koene reports no disclosuresDr. Jan C.M. Hendriks reports no disclosuresIlse Dirks reports no disclosuresDr. Lonneke de Boer reports no disclosuresDrs. Maaike C. de Vries reports no disclosuresDr. Mirian C.H. Janssen reports no disclosuresProf. Izelle Smuts is an advisory board member for GenzymeCheuk-Wing Fung reports no disclosuresProf Virginia C.N. Wong reports no disclosuresDr. I. (René) F.M. de Coo reports no disclosuresDr. Katharina Vill reports no disclosuresDr. Claudia Stendel reports no disclosuresDr. Klopstock serves as a principal investigator or investigator on industry-sponsored trials funded by Santhera Pharmaceuticals and by GenSight Biologics. He has received research support from government entities (German Research Foundation; German Federal Ministry of Education and Research; European Commission 7th Framework Programme) and from commercial entities (Santhera Pharmaceuticals; Actelion Pharmaceuticals). He has been serving on scientific advisory boards for commercial entities (Santhera Pharmaceuticals; Actelion Pharmaceuticals) and for non-profit entities (Center for Rare Diseases Bonn, Germany; Hoffnungsbaum e.V., Germany). He has received speaker honoraria and travel costs from commercial entities (Santhera Pharmaceuticals; Actelion Pharmaceuticals; GenSight Biologics). He has been serving as a Section Editor for BMC Medical Genetics from 2011.Dr. Marni Falk holds stock options for serving on the scientific advisory board of Perlstein Laboratory, serves on the scientific advisory board of the non-profit Genesis Foundation, serves on the scientific and medical advisory board of the United Mitochondrial Disease Foundation, is a consultant for and receives research support from Mitobridge, and receives research support from Cardero Therapeutics, Vitaflo, Raptor Pharmaceuticals, as well as the National Institutes of Health (R01-HD065858, U54-HD086984, R01-GM115730)Elizabeth M. McCormick reports no disclosuresDr. Robert McFarland is supported by grants from the Wellcome Trust (0969/Z/11/Z), Medical Research Council UK (Kooo608), Lily Foundation (RES/0163/7553) and Ryan Stanford Appeal (RES/0163/7546)Imelda J.M. de Groot is consultant for Biomarin, PTC, Treat-NMD. She has collaborations in scientific projects on the development of technical aids (arm and hand exoskeletons) with Focal Meditech, Hankamp, BAAT Medical products, Summit, Laevo, Xsens, Maastricht Instruments. She has no financial interest in these firmsProf. Jan A.M. Smeitink is the founding CEO of Khondrion BV

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