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

NCT03782883 | Completed DMC

• 1 other identifier: 5101-01-2018
• Study Type: observational
• Target: 3,321
• Locations: 1 country
• Sites: 1

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.

Conditions

Charcot-Marie-Tooth Disease

Outcome Measures

Primary Outcomes (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.

  Throughout study completion, up to 62 months

Secondary Outcomes (8)

• Work Limitations Questionnaire (WLQ)

  Throughout study completion, up to 62 months

• Brief Fatigue Inventory (BFI)

  Throughout study completion, up to 62 months

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

  Throughout study completion, up to 62 months

• Bespoke questionnaire for this study

  Throughout study completion, up to 62 months

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

  Throughout study completion, up to 62 months

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• (\*) 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

Sponsors & Collaborators

• Vitaccess Ltd: lead
• ACMT-Rete per la malattia di Charcot-Marie-Tooth OdV: collaborator
• Charcot-Marie-Tooth Association: collaborator
• Charcot-Marie-Tooth UK: collaborator
• CMT France: collaborator
• Federación Española de Enfermedades Neuromusculares: collaborator
• Hereditary Neuropathy Foundation: collaborator
• Pharnext S.C.A.: collaborator

Study Sites (1)

Vitaccess Ltd

London, TW9 2JA, United Kingdom

Location

Related Publications (2)

• 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.

  PMID: 33086913 BACKGROUND

• 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.

  PMID: 36005469 BACKGROUND

Related Links

• Research portal via which anonymised data can be made available to approved researchers
• Registration page to enrol in the study
• Digital platform used to support the study

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Mark JW Larkin, PhD

  Vitaccess Ltd

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: PROSPECTIVE
• Target Duration: 62 Months
• Sponsor Type: INDUSTRY
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director

Study Record Dates

• First Submitted: December 17, 2018
• First Posted: December 20, 2018
• Study Start: October 9, 2018
• Primary Completion: December 31, 2023
• Study Completion: December 31, 2023
• Last Updated: November 14, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)