Product information and disease description Place of product in therapy Disease description Burden of MCT8 deficiency

Humanistic burden and health-related quality of life

6 evidence topics · 5 sources

International parent registry: objective and population

“The primary objective was to document the complex needs and daily care challenges encountered in care for patients with MCT8 deficiency and to what extent these are met by supportive measures and specialist care.” (opens the source at this quote in a new tab)
“Of the 46 registered patients with full informed consent, data of 40 patients (40 males, 100%) with a median age of 3.0 years (range, 0.5-31.6 years), from 18 countries in 5 different continents” (opens the source at this quote in a new tab)

International parent registry: difficulties in daily care

Parent-reported difficulty	Participants
Feeding	“17 of 33 patients”
Limited motor skills	“12 of 33 patients”
Sleeping problems	“11 of 33 patients”
Mobility	“10 of 33 patients”
Communication	“8 of 33 patients”

International parent registry: use of supportive and specialist care

“Despite feeding problems being the most commonly reported difficulty in daily life, only 11 of 36 patients received advice from a professional dietician or nutrologist” (opens the source at this quote in a new tab)
“Of those with reported feeding problems, only 2 of 16 patients had a feeding tube (data on feeding tube missing for 1 patient).” (opens the source at this quote in a new tab)
“Two of 32 patients were under care of a cardiologist.” (opens the source at this quote in a new tab)
“The majority of parents (18 of 31 patients) deemed knowledge about MCT8 deficiency among medical professionals as bad or very bad” (opens the source at this quote in a new tab)

International parent registry: limitations stated by the authors

“First, it is unclear to which extent the patients in this study represent the entire population of patients with MCT8 deficiency.” (opens the source at this quote in a new tab)
“Second, patients deceased before the initiation of the registry were not included.” (opens the source at this quote in a new tab)

Caregiver-reported patient functioning and health-related quality of life

“As assessing HRQoL directly from patients with MCT8 deficiency can be challenging, caregivers completed the EQ-5D-5L proxy version 1 to rate their care recipient’s HRQoL.” (opens the source at this quote in a new tab)
“Twenty-two caregivers residing in the United Kingdom, United States, Canada, France, Netherlands, Italy, and Germany participated in the study. The mean age of the patients with MCT8 deficiency was 8.8 years, ranging from 0.8 to 30.4 years. Over half (54.5%) had no head control and none could sit or walk without support.” (opens the source at this quote in a new tab)
“The majority of patients with MCT8 deficiency were unable to walk (72.7%), wash or dress themselves (77.3%) or carry out their usual activities (68.2%). Over half (54.5%) had slight pain or discomfort and over one-third felt slightly anxious or depressed (36.4%).” (opens the source at this quote in a new tab)
“No disease-specific instrument exists for MCT8 deficiency and the EQ-5D-5L has limitations as a generic instrument.” (opens the source at this quote in a new tab)

Dependence on caregivers for activities of daily living

“All the patients in this study presented with severe psychomotor retardation. Most were bedridden (a few held their head up) and had no speech. All patients required assistance in all aspects of daily living, including eating and toileting.” (opens the source at this quote in a new tab)