SPIMM-300

Principal Investigator: NicolaLongo
Keywords: Mitochondrial disease Department: Pediatric Genetics
IRB Number: 00101249 Co Investigator:
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

CarrieBailey
carrie.bailey@hsc.utah.edu
8015873605

Brief Summary

Study Purposes

In this prospective, observational study, the Investigator will continue to make his/her own clinical decisions regarding care of enrolled patients diagnosed with PMD; thus, data captured at the single study visit will provide a snapshot of the current practice related to diagnosis, management, and clinical findings. At the time of enrollment, data will be collected from the following sources: (1) Investigator-completed questionnaires that capture information from the patient’s medical record, (2) genetic testing in patients who do not have adequate prior genetic test results from a certified laboratory (determined by the Investigator), (3) patient-completed questionnaires about disease symptoms and quality of life, and (4) a timed walking test to examine the extent of exercise tolerance and fatigue, an up-and-go test to assess mobility, and a sit-to-stand test to assess functional lower limb strength and balance. The information captured in this study will serve to evaluate the relationship of genetic confirmation (genotype) with the clinical presentation (phenotype) of PMD, compare local and regional differences in standard of care and management of patients with PMD, compare local and regional differences in genetic testing methodologies for PMD, and identify potential patients for an upcoming Phase 3, randomized, double-blind, placebo-controlled study evaluating elamipretide for the treatment of PMD (Protocol SPIMM-301).

Primary Objectives: 

To assess the relationship if genetic test results (genotype) to the clinical presentation (phenotype) of patients with primary mitochondrial disease (PMD)

To compare local and regional differences in standard of care and management of patients with PMD

Secondary Objectives:

To identify potential patients for an upcoming Phase 3, randomized, double-blind, placebo-controlled clinical study examining elamipretide for the treatment of PMD (Protocol SPIMM-301)

To compare local and regional differences in genetic testing methodologies for PMD

Inclusion Criteria

Patient (or guardian) is willing and able to provide written informed consent prior to participation in any study-related procedures.

Patient is ≥16 and ≤65 years of age at baseline. 

Patient has a clinical presentation of PMD with either signs or symptoms suggestive of myopathy (e.g., easy fatigability, exercise intolerance, muscle pain) in the opinion of the Investigator. 

Patient is ambulatory and able to attempt the 6MWT.

Exclusion Criteria

Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements. 

Patient has symptoms of PMD due to known secondary mitochondrial dysfunction (e.g., drug induced myopathy).

Patient has had prior exposure to elamipretide or has previously been randomized into a study investigating elamipretide. 

Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments. 

Patient has a score of "Not at all" for all symptoms on the PMDSA.