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Global Registry and Natural History Study for Mitochondrial Disorders

ConditionsMitochondrial DiseasesKearns-Sayre SyndromeMIDDSANDOSCAENARP SyndromeMELAS SyndromeMERRF SyndromeCoenzyme Q10 DeficiencyLHONMNGIEMIRASBarth SyndromeMDSMitochondrial MyopathiesLeigh SyndromePearson SyndromeCPEO
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorLMU Klinikum

About this trial

The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

suspected or confirmed mitochondrial disease

willingness to participate

Disqualifiers

unwillingness to participate

Trial population

All

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

6,000 Participants
are grouped into 1 trial group
Group A: Mitochondrial patients

Trial outcomes

Primary outcomes

1

Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III

Newcastle Mitochondrial Disease Scale for Adults (NMDAS) is a clinical rating scale designed for mitochondrial disease. The rating scale explores several domains: current function, system specific involvement and current clinical assessment. The individual scores are summed to provide a total score that ranges from 0 to 145; higher scores indicate more severely affection.

Time frame
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
2

Newcastle Pediatric Mitochondrial Disease Scale for Children (NPMDS)

NPMDS is a clinical rating scale designed for mitochondrial disease in children. There are three versions of the NPMDS, each for a specific age range (0-24 months, 2-11 years, and 12-18 years). The rating scale explores several domains: current function (Section I), system specific involvement (Section II), current clinical assessment (Section III) and quality of life (QoL) assessments (Section IV). The individual scores in Section I-III are summed to provide a total score that ranges from 0 to 70 (version 0-24month) and 0-82 (versions 2-18 years); higher scores indicate more severely affection. Section IV (QoL) is scored separately and provide a total score that ranges from 0 to 25 with higher scores indicating better quality of life.

Time frame
The individual participants are followed with annual assessments until they reach the next age group version (up to 18 years) or until discontinuation or death.
3

Scale for the assessment and rating of ataxia (SARA) in adults

The Scale for the Assessment and Rating of Ataxia (SARA) is a clinical scale used to assess cerebellar ataxia in adults. The scale includes 8 items, related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test. The individual scores are summed to provide a total score that ranges from 0 to 40, higher scores indicate more severe ataxia.

Time frame
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
4

Disease progression

Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.

Time frame
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

LMU Klinikum

Lead sponsor

European Commission

Collaborator

German Federal Ministry of Education and Research

Collaborator

University of Pisa

Collaborator

Source ClinicalTrials.gov
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