Product information and disease description Place of product in therapy Disease description

Natural history, survival, and mortality

8 evidence topics · 4 sources

International natural-history cohort: design, objective, and population

“We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death.” (opens the source at this quote in a new tab)
“Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations.” (opens the source at this quote in a new tab)

International natural-history cohort: mortality, causes of death, and overall survival

“32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]).” (opens the source at this quote in a new tab)
“Median overall survival was 35·0 years (95% CI 8·3–61·7).” (opens the source at this quote in a new tab)

International natural-history cohort: prognostic factors for death

“Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76–8·34; log-rank test p=0·0041).” (opens the source at this quote in a new tab)
“Patients who were underweight during age 1–3 years had an increased risk for death compared with patients who were of normal bodyweight at this age (HR 4·71, 95% CI 1·26–17·58, p=0·021).” (opens the source at this quote in a new tab)

International natural-history cohort: motor and cognitive abilities with age

“The few motor and cognitive abilities of patients did not improve with age, as evidenced by the absence of significant correlations between biological age and scores on the Gross Motor Function Measure-88 and Bayley Scales of Infant Development III.” (opens the source at this quote in a new tab)

Childhood mortality

“Outcomes for individuals with MCT8 deficiency remain poor, with an estimated one in three affected individuals dying during childhood.” (opens the source at this quote in a new tab)

Causes of early death and survival into late adulthood

“Early death has occurred in some individuals, usually caused by recurrent infections and/or aspiration pneumonia. In a few instances survival beyond age 70 years has been reported.” (opens the source at this quote in a new tab)

Japanese nationwide survey: functional status and deaths

“All patients showed severe psychomotor retardation, and none were able to walk or speak.” (opens the source at this quote in a new tab)
“Subsequently, 29 surviving and three deceased patients were identified (Fig. 1). The cause and age of death in the three patients were sudden death (4 years), cardiopulmonary arrest after vomiting (35 years), and pneumonia (24 years).” (opens the source at this quote in a new tab)
“The mean age of the surviving 29 patients was 12.0 years (range 2.3–31.4) with a median of 9.7 years (three patients over 20 years of age).” (opens the source at this quote in a new tab)

Japanese nationwide survey: imaging and neurophysiology over time

“Initial white matter signal abnormalities on head MRI showed recovery, but somatosensory evoked potentials (SEP) showed no improvement, suggesting that the patient remained dysfunctional.” (opens the source at this quote in a new tab)