Table 1.

Demographic and genotypic characteristic summary (N = 30) [25]

Variable	n	Mean (SD or range) or percentage
Age (in years)	30	45.3 (17–65)
Sex
Female	25	83%
Male	5	17%
Race (one participant chose all that applied)
White	30	100%
Asian	1	3%
Ethnicity
Not Hispanic of Latino	29	97%
Hispanic of Latino	1	3%
Weight (kg)	30	65.1 (± 14.2)
BMI (kg/m2)	30	24.1 (15.8–36.0)
Baseline 6MWT (m)	30	389.4 (± 23.6)
Baseline 6MWT (m) < 450	22	73%
Baseline 6MWT (m) ≥ 450	8	27%
Genotypic characteristics
Mitochondrial DNA (mtDNA)
Disorders involving mtDNA mutations that impair mitochondrial protein synthesis in toto	19	63%
Mitochondrial deletion syndrome	11	37%
m.3243A > G	4	13%
m.8344A > G	3	10%
Multisystem mitochondrial disorder (MT-TH and tRNA)	1	3%
Disorders involving mtDNA mutations that affect the subunits of the respiratory chain	5	17%
Multisystem mitochondrial disorder (MT-COX1)	1	3%
Mitochondrial Myopathy (MTCYB)	1	3%
LHON Plus	1	3%
Multisystem Mitochondrial Disorder (MT-ND3)	1	3%
Leigh syndrome (NDUFV1)	1	3%
Nuclear DNA (nDNA)
Disorders involving nDNA mutations causing defects of intergenomic signaling	3	10%
POLG-related disorder	3	10%
Disorders involving nDNA mutations causing alterations of the lipid milieu of the inner mitochondrial membrane	1	3%
MEGDEL	1	3%
Disorders involving nDNA mutations causing alterations of mitochondrial motility or fission	2	7%
Multisystem mitochondrial disorder (OPA1)	2	7%

One subject failed to meet inclusion criteria at Visit 2 and was discontinued from the study. One subject discontinued from the study after the Week 10 home visit (between Visit 4 and Visit 5). Both participants’ demographic information collected at screening is included in the above summaries

6MWT = six-minute walk test; SD = standard deviation