MCT8 Deficiency Caregiver Study

Caregiver-reported Economic Burden and Quality of Life Impact of Monocarboxylate Transporter 8 (MCT8) Deficiency

Caregivers face many responsibilities outside of their role as a friend or parent, which can lead to emotional, financial, social, and professional challenges. To better understand the impact of MCT8 deficiency on caregivers, Egetis Therapeutics are conducting an online survey for adult caregivers of persons living with the MCT8 deficiency.

Study Overview

• Status: Completed
• Conditions: Allan-Herndon-Dudley Syndrome; Monocarboxylate Transporter 8 (MCT8) Deficiency

Detailed Description

Understanding the impact of MCT8 deficiency on caregivers and patients is key to facilitating evidence-based policy interventions and identifying better treatments and treatment practices that take full account of the actual environment in which care is delivered.

This study will address the gap in research about the wider impact of MCT8 deficiency by exploring the caregiver-reported economic burden and health-related quality of life (HRQoL) impact of the disease. Adult caregivers will report HRQoL outcomes for themselves and the person with MCT8 deficiency that they care for, as affected patients have limited cognitive function and communication abilities and cannot report the information themselves.

The results from this study will provide insight into the economic and HRQoL impact of MCT8 deficiency, as reported by caregivers, in the UK, US, Canada, France, Netherlands, Spain, Australia, Italy, and Germany.

• Study Type: Observational
• Enrollment (Actual): 21

Contacts and Locations

Study Locations

• United Kingdom
  • Oxfordshire
    • Oxford, Oxfordshire, United Kingdom, OX4 4GA
      • Vitaccess Ltd

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Adults who are the main caregiver to a person diagnosed with MCT8 deficiency or Allan-Herndon-Dudley syndrome and regularly provide a significant amount of help to them.

Description

Inclusion Criteria:

• 18 years or older
• Resident in the UK, US, Canada (except Newfoundland & Labrador and Alberta), France, Netherlands, Spain, Australia, Italy, and Germany
• Main caregiver to a person diagnosed with MCT8 deficiency

Exclusion Criteria:

• Paid caregivers to a person diagnosed with MCT8 deficiency

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quantify the economic burden of caring for a patient with MCT8 deficiency using bespoke questions	Economic burden will be assessed by using bespoke questions on the time spent providing care and impact on caregiver's family and work circumstances.	once, at enrolment
Quantify the cost of caring for a patient with MCT8 deficiency using bespoke questions	Costs will be assessed by using bespoke questions on the caregiver's employment income, costs of travel/transport, contributions to the costs of treatments and other costs of care.	once, at enrolment
Quantify the health-related quality of life (HRQoL) burden of caring for a patient with MCT8 deficiency using the EQ-5D-5L	The impact on the caregiver's wellbeing will be assessed using the EQ-5D-5L, which comprises two parts. The descriptive system comprises 5 dimensions (mobility, self-care, usual activities, pain/discomfort, and anxiety/depression), each with 5 levels (1 - no problems, 2 - slight problems, 3 - moderate problems, 4 - severe problems, and 5 - extreme problems). The digits for 5 dimensions can be combined in a 5-digit number describing the respondent's health state. The EQ Visual Analogue Scale (EQ-VAS) records the respondent's self-rated health on a vertical scale with endpoints labelled 100, representing 'the best health you can imagine' and 0, 'the worst health you can imagine'. Higher scores represent better self-perceived health.	once, at enrolment
Quantify the health-related quality of life (HRQoL) burden of caring for a patient with MCT8 deficiency using the PedsQL	The impact on the caregiver's family will be assessed using the Pedriatric Quality of Life Inventory (PedsQL™) Family Impact Module. The PedsQL™ has 36 items broken down into 7 subdomains of physical, emotional, social, and cognitive functioning, communication, and worry as well as family daily activities and family relationships. A 5-point response scale is utilized (0 = never a problem; 4 = always a problem). Items are reverse-scored and linearly transformed to a 0-100 scale (0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0), so that higher scores indicate better functioning (less negative impact).	once, at enrolment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Describe the social and demographic characteristics of patients and caregivers	This will be assessed using the caregiver age, sex, relationship to the person with MCT8 deficiency, household information and caring responsibilities. Limited data will also be analyzed on the profile of the person being cared for with MCT8 deficiency, specifically patient's age, functioning (physical and communication), tests done related to MCT8 deficiency, the range of medical professionals seen for treatment, and frequency and length of hospital stays.	once, at enrolment
Investigate the experiences of caregivers providing care and support to patients affected by MCT8 deficiency	Caregiver experience will be assessed using responses provided to bespoke questions on family circumstances, other caring responsibilities, impact of caregiving on their sleep, domestic and professional support at home. All bespoke questions are categorical variables with various response options.	once, at enrolment
Provide additional evidence on the HRQoL of patients with MCT8 deficiency across health states using the EQ-5D-5L proxy version 1	EQ-5D-5L proxy version 1 will be captured from the caregiver (the proxy) to rate the person with MCT8 deficiency's health-related quality of life in their (the proxy's) opinion. The instrument comprises two parts. The descriptive system comprises 5 dimensions (mobility, self-care, usual activities, pain/discomfort, and anxiety/depression), each with 5 levels (1 - no problems, 2 - slight problems, 3 - moderate problems, 4 - severe problems, and 5 - extreme problems). The digits for 5 dimensions can be combined in a 5-digit number describing the health state of the person the respondent is reporting on. The EQ Visual Analogue Scale (EQ-VAS) records how the respondent would rank the person's health on a vertical scale with endpoints labelled 100, representing 'the best health you can imagine' and 0, 'the worst health you can imagine'. Higher scores represent better self-perceived health.	once, at enrolment

Collaborators and Investigators

• Sponsor: Rare Thyroid Therapeutics International AB
• Collaborators: Vitaccess Ltd
• Investigators: Principal Investigator: Mark Larkin, PhD, Vitaccess Limited

Study record dates

Study Major Dates

• Study Start (Actual): August 23, 2022
• Primary Completion (Actual): April 12, 2024
• Study Completion (Actual): April 12, 2024

Study Registration Dates

• First Submitted: August 11, 2023
• First Submitted That Met QC Criteria: September 22, 2023
• First Posted (Actual): September 29, 2023

Study Record Updates

• Last Update Posted (Actual): April 25, 2024
• Last Update Submitted That Met QC Criteria: April 24, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: caregiver; MCT8 deficiency; HRQoL; PROs; EQ-5D-5L; economic burden
• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Atrophy; Muscular Atrophy; Muscle Hypotonia; Mental Retardation, X-Linked
• Other Study ID Numbers: 4253-09-2021

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No