scholarly journals Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

2021 ◽  
Vol 11 (1) ◽  
pp. 21-33
Author(s):  
Florian P Thomas ◽  
Mario Saporta ◽  
Shahram Attarian ◽  
Teresa Sevilla ◽  
Rafael Sivera Mascaró ◽  
...  
Keyword(s):  
Real World ◽  
Unmet Needs ◽  
Sensory Neuropathy ◽  
Smartphone Application ◽  
Charcot Marie Tooth ◽  
The Real ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
Selection Of ◽  
Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy affecting the peripheral nervous system. This study will explore the real-world impact of CMT. The trial is a digital study of approximately 2000 people in 6 countries with CMT ≥18 years. Participants will use a smartphone application to check eligibility, provide consent and contribute data. The dataset will include a personal profile, covering demographics, lifestyle, diagnosis and treatment and a selection of validated generic and disease-specific instruments. Participants will provide data for up to 2 years. Data analysis will be conducted upon registration of the 1000th participant and at 12-month intervals from launch. This study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients. ClinicalTrials.gov identifier: NCT03782883

scholarly journals The patient-reported impact of Charcot-Marie-Tooth disease in the real world: the design and conduct of a digital lifestyle study (CMT&Me)

2020 ◽  
Author(s):  
Florian P Thomas ◽  
Mario Saporta ◽  
Shahram Attarian ◽  
Teresa Sevilla ◽  
Rafael Sivera Mascaró ◽  
...  
Keyword(s):  
Real World ◽  
Sensory Loss ◽  
Measurement Information ◽  
Lower Extremity Function ◽  
Specific Patient ◽  
Charcot Marie Tooth ◽  
The Real ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
Tooth Disease

Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, ≥ 18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be recruited using community-based methods, via patient advocacy groups, social media, and word of mouth. Participants will use a smartphone application (CMT&Me) to check eligibility, provide consent, and contribute data. The dataset will include: 1) personal profile on enrolment – demographics, lifestyle characteristics, diagnosis, and current and previous treatments; 2) a selection of validated generic and disease-specific patient-reported outcome instruments: EuroQol 5 Dimensions 5 Levels (EQ-5D-5L), Brief Fatigue Inventory (BFI), Patient-Reported Outcomes Measurement Information System (PROMIS™) Pain Intensity 3a, Pain Interference 6b and Sleep Disturbance 8a, Work Limitations Questionnaire (WLQ), Falls Efficacy Scale – International (FES-I), Lower Extremity Function Scale (LEFS), and Quick Disabilities of Arm, Shoulder & Hand (QuickDASH). Descriptive data analysis will be conducted upon registration of the 1,000th participant and at 12-monthly intervals from study launch. Conclusions This digital, patient-reported study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients.

scholarly journals Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

2020 ◽  
Author(s):  
Florian P Thomas ◽  
Mario Saporta ◽  
Shahram Attarian ◽  
Teresa Sevilla ◽  
Rafael Sivera Mascaró ◽  
...  
Keyword(s):  
Real World ◽  
Sensory Loss ◽  
Measurement Information ◽  
Lower Extremity Function ◽  
Specific Patient ◽  
Charcot Marie Tooth ◽  
The Real ◽  
Charcot Marie Tooth Disease ◽  
Patient Reported ◽  
Tooth Disease

Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be recruited using community-based methods, via patient advocacy groups, social media, and word of mouth. Participants will use a smartphone application (CMT&Me) to check eligibility, provide consent, and contribute data. The dataset will include: 1) personal profile on enrolment – demographics, lifestyle characteristics, diagnosis, and current and previous treatments; 2) a selection of validated generic and disease-specific patient-reported outcome instruments: EuroQol 5 Dimensions 5 Levels (EQ-5D-5L), Brief Fatigue Inventory (BFI), Patient-Reported Outcomes Measurement Information System (PROMIS™) Pain Intensity 3a, Pain Interference 6b and Sleep Disturbance 8a, Work Limitations Questionnaire (WLQ), Falls Efficacy Scale – International (FES-I), Lower Extremity Function Scale (LEFS), and Quick Disabilities of Arm, Shoulder & Hand (QuickDASH). Descriptive data analysis will be conducted upon registration of the 1,000th participant and at 12-monthly intervals from study launch. Conclusions This digital, patient-reported study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients.

Biomechanical effects of sensorimotor orthoses in adults with Charcot–Marie–Tooth disease

2015 ◽  
Vol 40 (4) ◽  
pp. 436-446 ◽  
Author(s):  
Caleb Wegener ◽  
Katrin Wegener ◽  
Richard Smith ◽  
Karl-Heinz Schott ◽  
Joshua Burns
Keyword(s):  
Lower Limb ◽  
Repeated Measures ◽  
Three Dimensional ◽  
Walking Ability ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathy ◽  
Custom Made ◽  
Patient Reported ◽  
Tooth Disease

Background: Charcot–Marie–Tooth disease is an inherited neuropathy causing progressive weakness, foot deformity and difficulty walking. Clinical anecdotes suggest orthoses designed on the ‘sensorimotor’ paradigm are beneficial for improving gait in Charcot–Marie–Tooth disease. Objectives: Investigate the effect of sensorimotor orthoses on in-shoe and lower limb biomechanics in adults with Charcot–Marie–Tooth disease. Study design: Randomised, repeated-measures, exploratory study. Methods: Eight males and two females with Charcot–Marie–Tooth disease aged 31–68 years fitted with pedorthic shoes and custom-made sensorimotor orthoses were randomly tested at baseline and after 4 weeks of adaptation. In-shoe three-dimensional multi-segment foot and lower limb kinematics and kinetics were collected as were plantar pressures, electromyography and self-reported comfort, stability, cushioning and preference. Results: Compared to the shoe only condition, sensorimotor orthoses increased midfoot eversion and plantarflexion, increased ankle eversion and produced small but significant changes at the knee and hip indicating increased internal rotation. The orthoses increased medial ground reaction forces and increased pressure at the heel, midfoot and toes. There were minimal effects on electromyography. The sensorimotor orthoses were rated higher for comfort, cushioning, stability and preference. Conclusion: Sensorimotor orthoses produced changes in kinematic, kinetic and pressure variables in adults with Charcot–Marie–Tooth disease and were regarded as more comfortable, cushioned and stable during walking. Clinical relevance In this study, the walking ability of patients with Charcot–Marie–Tooth disease improved with the use of foot orthoses designed according to the sensorimotor paradigm. However, the mechanism of action appears to be primarily mechanical in origin. Randomised controlled trials are necessary to evaluate the long-term patient-reported outcomes of sensorimotor orthoses.

A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease

2020 ◽  
Vol 41 (7) ◽  
pp. 870-880 ◽  
Author(s):  
Glenn B. Pfeffer ◽  
Tyler Gonzalez ◽  
James Brodsky ◽  
John Campbell ◽  
Chris Coetzee ◽  
...  
Keyword(s):  
Consensus Statement ◽  
Sensory Neuropathy ◽  
Comprehensive Approach ◽  
Foot And Ankle ◽  
Clinical Experiences ◽  
Consensus Guidelines ◽  
Level Of Evidence ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor-sensory neuropathy that is often associated with a cavovarus foot deformity. Limited evidence exists for the orthopedic management of these patients. Our goal was to develop consensus guidelines based upon the clinical experiences and practices of an expert group of foot and ankle surgeons. Methods: Thirteen experienced, board-certified orthopedic foot and ankle surgeons and a neurologist specializing in CMT disease convened at a 1-day meeting. The group discussed clinical and surgical considerations based upon existing literature and individual experience. After extensive debate, conclusion statements were deemed “consensus” if 85% of the group were in agreement and “unanimous” if 100% were in support. Conclusions: The group defined consensus terminology, agreed upon standardized templates for history and physical examination, and recommended a comprehensive approach to surgery. Early in the course of the disease, an orthopedic foot and ankle surgeon should be part of the care team. This consensus statement by a team of experienced orthopedic foot and ankle surgeons provides a comprehensive approach to the management of CMT cavovarus deformity. Level of Evidence: Level V, expert opinion.

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a

1993 ◽  
Vol 39 (9) ◽  
pp. 1845-1849 ◽  
Author(s):  
G W Hensels ◽  
E A Janssen ◽  
J E Hoogendijk ◽  
L J Valentijn ◽  
F Baas ◽  
...  
Keyword(s):  
Preliminary Investigation ◽  
Sensory Neuropathy ◽  
Disease Type ◽  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Chromosomal Dna ◽  
Gene Encoding ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Abstract Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within this duplication. To detect this duplication in chromosomal DNA from individuals thought to have CMT1, we compared the hybridization signals of two DNA probes within this duplication (VAW412R3a and VAW409R3a) with the signal of a reference probe (E3.9). When duplication was present, the signals from the first two probes increased from 100% (for nonduplicated samples) to 145% and 142%, respectively. The day-to-day variance was 3.7% and 5.1%, respectively. We demonstrated this DNA duplication in 49 of 95 DNA samples from unrelated individuals thought to have CMT1. Moreover, because hereditary neuropathy with liability to pressure palsies (HNPP) is based on a DNA deletion in the same area of chromosome 17, this quantitative test may be useful in establishing the presence of HNPP. In a preliminary investigation, four unrelated patients with HNPP yielded test values of 63% and 54%, respectively, of those for nonduplicated samples (CV 19% and 18%, respectively; n = 4), suggesting a deletion in 17p11.2.

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