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Charcot-Marie-Tooth DiseaseNCT03782883

The Impact of Charcot-Marie-Tooth Disease in the Real World

An observational study of Charcot-Marie-Tooth Disease, run by Vitaccess Ltd at 1 site in United Kingdom.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

An observational, non-interventional registry study to collect real-world data from people living with Charcot-Marie-Tooth disease (CMT) and its treatment, which will be available to researchers to further the knowledge of Charcot-Marie-Tooth disease and improve patient care. Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
Charcot-Marie-Tooth Disease
How many people
3,321 participants
Where
1 siteUnited Kingdom
Study dates
9 Oct 2018to 31 Dec 2023
How long will I take part?
62 Months
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
  • No healthy volunteers
  • Adult, Older adult

Study population: Adults (age >18 years) with any stage and any subtype of Charcot-Marie-Tooth disease, who are resident in France, Germany, Italy, Spain, the United Kingdom (UK) or the USA, so long as they have a National Health Service (NHS) or Community Health Index (CHI) number (or equivalent) and are willing to use their own smartphone / tablet.

Who may be able to join

  • () Aged 18 years and over () Diagnosed with any stage and any subtype of Charcot-Marie-Tooth disease () Resident in France, Germany, Italy, Spain, the UK, or the USA () Have a National Health Service (NHS) or Community Health Index (CHI) number, or equivalent () Willing to use their own smartphone

Who cannot join

  • () No specific exclusion criteria.

Trial locations and contacts

1 site in 1 country.

United Kingdom1 site

  • Vitaccess Ltd

    London, TW9 2JA

Other trials in United Kingdom

About this study

An observational, non-interventional registry study to collect real-world data from people living with Charcot-Marie-Tooth disease (CMT) and its treatment, which will be available to researchers to further the knowledge of Charcot-Marie-Tooth disease and improve patient care.

Read the detailed description

The registry uses Vitaccess' digital real-world evidence platform and has been developed in collaboration with CMT experts, Patient Advocacy Organizations (PAOs) and the biopharmaceutical company Pharnext.

Eligible participants install a study app on their smartphone. Researchers access aggregated, anonymised data via a cloud-based research portal.

The platform provides benefits to participants, which it is hoped will encourage persistence with data submission; these include options to download a copy of their symptom diary, a clinically-validated Knowledge feature, and access to high-level results from the study data.

The aggregated data are available in close to real time via "dashboards" and can be analysed according to a number of pre-set criteria (e.g. disease stage, age, geographic location).

State-of-the-art technologies and security policies are used in the platform to ensure industry-standard data storage and privacy for all users. Participants' personally identifiable information will remain confidential at all times, and researchers will not be able to identify individuals.

The study is ethics-approved in all scope countries and led by a Scientific Advisory Board comprising representatives from international PAOs, patients and key opinion leaders from each country, and study leads from both Pharnext Société Anonyme (SA) and Vitaccess Ltd.

Medical subject headings
Charcot-Marie-Tooth Disease

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. EuroQoL 5-dimension 5-level (EQ-5D-5L)

    The EQ-5D-5L comprises two parts - the EQ-5D-5L descriptive system and the EQ Visual Analogue Scale (EQ VAS).

    The descriptive system comprises 5 dimensions (mobility, self care, usual activities, pain/discomfort, and anxiety/depression), each with 5 levels (no problems, slight problems, moderate problems, severe problems, and extreme problems - i.e., higher scores represent worse health). The digits for 5 dimensions can be combined in a 5-digit number describing the respondent's health state.

    The EQ VAS records the respondent's self-rated health on vertical, visual analogue scale with endpoints labelled 'the best health you can imagine' and 'the worst health you can imagine'. Higher scores represent better self-perceived health.

    Measured: Throughout study completion, up to 62 months

Secondary outcomes (8)

  1. Work Limitations Questionnaire (WLQ)

    The WLQ measures the impact of CMT on participants' work ability and productivity. The measure comprises 25 items that ask respondents to rate their level of difficulty or ability to perform specific job demands, aggregated into four domains: time management, physical demands, mental-interpersonal demands, and output demands. Domain scores range from 0 to 100 and the recall period is the previous 2 weeks. WLQ domain scores can be converted into an estimate of productivity loss using an algorithm.

    Measured: Throughout study completion, up to 62 months

  2. Brief Fatigue Inventory (BFI)

    The BFI assesses the fatigue severity in patients with CMT. The measure comprises 10 items, although the first item asks about usual fatigue over the past week (with the respondent answering "yes" or "no") and is not included in the overall score. The remaining nine items assess general fatigue within two subscales: fatigue severity (three items), and the impact of fatigue on daily functioning (six items). The measure uses a 10-point numeric rating scale, and a recall period of 24 hours. A global fatigue score can be calculated by averaging all nine items.

    Measured: Throughout study completion, up to 62 months

  3. Patient-Reported Outcomes Measurement Information System (PROMIS) Pain Intensity 3a and Interference 8a

    The PROMIS pain intensity measure includes two items that assess pain intensity over the last 7 days (average and worst pain), and one for pain intensity "right now"; each scores using a 5-point scale. Scores range from 2-10. Higher scores represent worst pain. This measure is generic rather than disease-specific.

    The PROMIS pain interference measure assesses the extent to which pain hinders engagement with social, cognitive, emotional, physical and recreational activities, sleep, and enjoyment in life over the last 7 days using a 5-point scale. Scores range from 8-40. Higher scores represent worse interference. This measure is generic rather than disease-specific.

    Measured: Throughout study completion, up to 62 months

  4. Bespoke questionnaire for this study

    Two cramp-specific items were developed for inclusion in the survey, measuring cramp frequency and intensity. The cramp frequency item asks "In the past 7 days, how many days did you experience cramp?" and has five possible responses: had no cramp, 1-2 days, 3-4 days, 5-6 days, every day. The cramp intensity item asks "In the past 7 days, how intense was your cramp at its worst?" and has five possible responses: had no cramp, mild, moderate, severe, very severe. Higher scores on both items represent greater cramp frequency and intensity respectively.

    Measured: Throughout study completion, up to 62 months

  5. Patient-Reported Outcomes Measurement Information System (PROMIS) Sleep Disturbance 8a

    The PROMIS sleep disturbance measure assesses self-reported perceptions of sleep quality, sleep depth, and restoration associated with sleep over the last 7 days using a 5-point scale. Scores range from 8-40. Higher scores represent worse sleep disturbance. This measure is generic rather than disease-specific.

    Measured: Throughout study completion, up to 62 months

  6. Falls Efficacy Scale - International (FES-I)

    The FES-I measures the level of concern about falling during social and physical activities inside and outside hte home, whether or not the person actually does the activity. The "usual" level of concern is measured on a four-point Likert scale (1 = not at all concerned to 4 = very concerned), with a time frame of "usual". Scores range from 16-64. Higher scores represent greater concern about falling.

    Measured: Throughout study completion, up to 62 months

  7. Lower Extremity Function Scale (LEFS)

    The LEFS evaluates difficulties because of lower limb problems in 20 activities, including work/school activities, hobbies, moving around the home, dressing, lifting, standing, sitting, walking, and running. The level of difficulty is assessed for "today" using a 5-point Likert scale (0 = extreme difficulty or unable to perform activity; 5 = No difficulty). Lower scores represent greater difficulties experience because of lower limb problems.

    Measured: Throughout study completion, up to 62 months

  8. QuickDash (Disabilities of the Arm, Shoulder and Hand)

    The QuickDash measure uses 11 items to measure physical function and symptoms in people with any or multiple musculoskeletal disorders of the upper limb. Six questions relate to the ability to perform six activities over the last week, ranging from opening a jar, carrying, washing and recreational activities; two questions relate to impact on social and daily activities; two questions ask the person to rate the severity of pain and tingling in the arms, shoulder or hand, and one question relates to the effects of pain on sleep. All questions are rated 1-5 (no difficulty/none/not at all through to unable/extreme difficulty). Scores range from 11-55. Higher scores represent greater difficulties with physical function and symptoms.

    Measured: Throughout study completion, up to 62 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted20 Dec 2018
  2. Study start9 Oct 2018
  3. Primary completion31 Dec 2023
  4. Study completion31 Dec 2023

Resources

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
Prospective
Enrolment
3,321 participants (actual)
Target duration
62 Months
IDs, dates and publications
ClinicalTrials.gov ID
NCT03782883
Sponsor's protocol ID
5101-01-2018
Status last verified
Apr 2024
First submitted
17 Dec 2018
Last updated
14 Nov 2024
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No: Aggregated data research dashboards will be available via industry subscriptions or free academic access.

Publications

  • Thomas FP, Saporta M, Attarian S, Sevilla T, Mascaro RS, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Monteiro K, Paoli X, Llewellyn S, Larkin M, Boutalbi Y. Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study. Neurodegener Dis Manag. 2021 Feb;11(1):21-33. doi: 10.2217/nmt-2020-0044. Epub 2020 Oct 22.

    PubMed 33086913

  • Thomas FP, Saporta MA, Attarian S, Sevilla T, Sivera R, Fabrizi GM, Genovese F, Gray AJ, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Paoli X, Senechal T, Day L, Ouyang C, Llewellyn S, Larkin M, Boutalbi Y. Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):7-17. doi: 10.1097/CND.0000000000000426. Epub 2022 Aug 19.

    PubMed 36005469

Questions about this trial

What is this clinical trial studying?

An observational study of Charcot-Marie-Tooth Disease, run by Vitaccess Ltd 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 1 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 14 Nov 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?

EuroQoL 5-dimension 5-level (EQ-5D-5L) (time frame: Throughout study completion, up to 62 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03782883, which also lists 2 linked publications.

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 14 Nov 2024.

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