MCT8 Deficiency Caregiver Study

Sponsor

Vitaccess Ltd (Industry)

Overall Status

Recruiting

CT.gov ID

NCT06060197

Collaborator

Egetis Therapeutics (Industry)

Enrollment

Location

13.2

Anticipated Duration (Months)

1.1

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Monocarboxylate Transporter 8 (MCT8) Deficiency Allan-Herndon-Dudley Syndrome

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 Design

Study Type:

Observational

Anticipated Enrollment :

15 participants

Observational Model:

Ecologic or Community

Time Perspective:

Cross-Sectional

Official Title:

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

Actual Study Start Date :

Aug 23, 2022

Anticipated Primary Completion Date :

Sep 30, 2023

Anticipated Study Completion Date :

Sep 30, 2023

Outcome Measures

Primary Outcome Measures

Quantify the economic burden of caring for a patient with MCT8 deficiency using bespoke questions [once, at enrolment]
Economic burden will be assessed by using bespoke questions on the time spent providing care and impact on caregiver's family and work circumstances.
Quantify the cost of caring for a patient with MCT8 deficiency using bespoke questions [once, at enrolment]
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.
Quantify the health-related quality of life (HRQoL) burden of caring for a patient with MCT8 deficiency using the EQ-5D-5L [once, at enrolment]
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.
Quantify the health-related quality of life (HRQoL) burden of caring for a patient with MCT8 deficiency using the PedsQL [once, at enrolment]
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).

Secondary Outcome Measures

Describe the social and demographic characteristics of patients and caregivers [once, at enrolment]
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.
Investigate the experiences of caregivers providing care and support to patients affected by MCT8 deficiency [once, at enrolment]
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.
Provide additional evidence on the HRQoL of patients with MCT8 deficiency across health states using the EQ-5D-5L proxy version 1 [once, at enrolment]
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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