Clinical trial NCT03782883: The Impact of Charcot-Marie-Tooth Disease in the Real World
Official title: The Impact of Charcot-Marie-Tooth Disease in the Real World
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Charcot-Marie-Tooth Disease
Lead sponsor: Vitaccess Ltd
Sponsor class: INDUSTRY
Collaborators: name: ACMT-Rete per la malattia di Charcot-Marie-Tooth OdV
name: Charcot-Marie-Tooth Association
name: Charcot-Marie-Tooth UK
name: CMT France
name: Federación Española de Enfermedades Neuromusculares
name: Hereditary Neuropathy Foundation
name: Pharnext S.C.A.
First posted: 2018-12-20
Enrollment: 3321
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: ECOLOGIC_OR_COMMUNITY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

Brief 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.

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.

Eligibility criteria: Inclusion Criteria:

(\*) 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

Exclusion Criteria:

(\*) No specific exclusion criteria.

Primary outcomes:
measure: EuroQoL 5-dimension 5-level (EQ-5D-5L)
timeFrame: Throughout study completion, up to 62 months
Secondary outcomes:
measure: Work Limitations Questionnaire (WLQ)
timeFrame: Throughout study completion, up to 62 months
measure: Brief Fatigue Inventory (BFI)
timeFrame: Throughout study completion, up to 62 months
measure: Patient-Reported Outcomes Measurement Information System (PROMIS) Pain Intensity 3a and Interference 8a
timeFrame: Throughout study completion, up to 62 months
measure: Bespoke questionnaire for this study
timeFrame: Throughout study completion, up to 62 months
measure: Patient-Reported Outcomes Measurement Information System (PROMIS) Sleep Disturbance 8a
timeFrame: Throughout study completion, up to 62 months
measure: Falls Efficacy Scale - International (FES-I)
timeFrame: Throughout study completion, up to 62 months
measure: Lower Extremity Function Scale (LEFS)
timeFrame: Throughout study completion, up to 62 months
measure: QuickDash (Disabilities of the Arm, Shoulder and Hand)
timeFrame: Throughout study completion, up to 62 months
Other outcomes:
Locations:
city: London
country: United Kingdom
facility: Vitaccess Ltd
Study officials:
affiliation: Vitaccess Ltd
name: Mark JW Larkin, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.