MCT8 Deficiency Caregiver Study

NCT06060197 | Completed

• 1 other identifier: 4253-09-2021
• Study Type: observational
• Target: 21
• Locations: 1 country
• Sites: 1

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.

Conditions

Monocarboxylate Transporter 8 (MCT8) Deficiency; Allan-Herndon-Dudley Syndrome

Keywords

MCT8 deficiency; caregiver; economic burden; HRQoL; EQ-5D-5L; PROs

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (3)

• Describe the social and demographic characteristics of patients and caregivers

  once, at enrolment

• Investigate the experiences of caregivers providing care and support to patients affected by MCT8 deficiency

  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

  once, at enrolment

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Paid caregivers to a person diagnosed with MCT8 deficiency

Sponsors & Collaborators

• Rare Thyroid Therapeutics International AB: lead
• Vitaccess Ltd: collaborator

Study Sites (1)

Vitaccess Ltd

Oxford, Oxfordshire, OX4 4GA, United Kingdom

Location

MeSH Terms

Conditions

Allan-Herndon-Dudley syndrome; Financial Stress

Condition Hierarchy (Ancestors)

Stress, Psychological; Behavioral Symptoms; Behavior

Study Officials

• Mark Larkin, PhD

  Vitaccess Limited

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 11, 2023
• First Posted: September 29, 2023
• Study Start: August 23, 2022
• Primary Completion: April 12, 2024
• Study Completion: April 12, 2024
• Last Updated: April 25, 2024

Record last verified: 2024-04

Locations

GB (1)