Monocarboxylate Transporter 8 (MCT8) DeficiencyNCT06060197
MCT8 Deficiency Caregiver Study
An observational study of Monocarboxylate Transporter 8 (MCT8) Deficiency and Allan-Herndon-Dudley Syndrome, run by Rare Thyroid Therapeutics International AB at 1 site in United Kingdom.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Monocarboxylate Transporter 8 (MCT8) Deficiency, Allan-Herndon-Dudley Syndrome
- How many people
- 21 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 23 Aug 2022to 12 Apr 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Paid caregivers to a person diagnosed with MCT8 deficiency
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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.
- Keywords
- MCT8 deficiency, caregiver, economic burden, HRQoL, EQ-5D-5L, PROs
- Medical subject headings
- Allan-Herndon-Dudley syndrome, Financial Stress
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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).
Measured: once, at enrolment
Secondary outcomes (3)
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.
Measured: 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.
Measured: 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.
Measured: once, at enrolment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Sep 2023
- Study start23 Aug 2022
- Primary completion12 Apr 2024
- Study completion12 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Monocarboxylate Transporter 8 (MCT8) DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Ecologic or community
- Time perspective
- Cross-sectional
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rare Thyroid Therapeutics International AB
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Vitaccess Ltd
- Responsible party
- Sponsor
- Investigators
- Mark Larkin, PhD, Principal investigator, Vitaccess Limited
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06060197
- Sponsor's protocol ID
- 4253-09-2021
- Status last verified
- Apr 2024
- First submitted
- 11 Aug 2023
- Last updated
- 25 Apr 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Caregiver-reported Economic Burden and Quality of Life Impact of Monocarboxylate Transporter 8 (MCT8) Deficiency
- ClinicalTrials.gov ID
- NCT06060197
- Acronym / sponsor ID
- 4253-09-2021
- Keywords
- MCT8 deficiency, caregiver, economic burden, HRQoL, EQ-5D-5L, PROs
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 21 participants (actual)
- Lead sponsor
- Rare Thyroid Therapeutics International ABIndustry (pharma, biotech, devices)
- Collaborators
- Vitaccess Ltd
- Study start
- 23 Aug 2022 (actual)
- Primary completion
- 12 Apr 2024 (actual)
- Study completion
- 12 Apr 2024 (actual)
- First posted
- 29 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Ecologic or community
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (1 listed)
- Paid caregivers to a person diagnosed with MCT8 deficiency
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Quantify the economic burden of caring for a patient with MCT8 deficiency using bespoke questions
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: 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).
3 secondary outcomes
Describe the social and demographic characteristics of patients and caregivers
Time frame: once, at enrolment
Investigate the experiences of caregivers providing care and support to patients affected by MCT8 deficiency
Time frame: 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
Time frame: once, at enrolment
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Apr 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mark Larkin, PhD principal investigator
Vitaccess Limited
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Monocarboxylate Transporter 8 (MCT8) Deficiency and Allan-Herndon-Dudley Syndrome, run by Rare Thyroid Therapeutics International AB at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quantify the economic burden of caring for a patient with MCT8 deficiency using bespoke questions (time frame: once, at enrolment). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Apr 2024.