Objective of our Survey: Better understanding of the CMT1A patient flow across the healthcare system (US and Europe) from presentation of first symptoms to treatment with supportive cares.

1. AN ONLINE SURVEY OF NEUROLOGISTS ABOUT
CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
X Paoli1, C Chalandon1, D Cohen1.
1Pharnext , 11 rue des Peupliers, 92130 Issy-les Moulineaux, France
This survey offers a better understanding of the current CMT1A patient journey. It has also allowed the identification of bottlenecks such as: patients choosing not to seek
care because no cure available, patients getting lost in the physician referral process, delay in diagnosis, misidentification of CMT subtype or underevaluation of disease
severity. To overcome these barriers, programs developed by both neurology societies and patient organizations could be instrumental: patient education / assistance,
patient helpline, educational symposium on CMT for patients and physicians, genetic testing promotion and compliance program on cares provided.
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of inherited, progressive, chronic, sensory and motor peripheral neuropathies. Presently incurable, CMT
is the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease type 1A (CMT1A) is a demyelinating subtype of CMT accounting for 50%
of patients with CMT. CMT1A is due to an autosomal dominantly transmitted duplication of the PMP22 gene encoding for a myelin protein. The resulting overexpression of the
PMP22 protein leads to a degradation of the neuronal sheath by dys-/de-myelination due to Schwann cell dedifferentiation / apoptosis. Symptoms include pes cavus, drop foot,
and tapering of distal limbs due to muscle atrophy which impair walking, balancing and dexterity. 5% of CMT1A patients are wheelchair-bound. Diagnosis is confirmed by a
DNA test. Currently CMT1A management is largely based on supportive care, i.e. physical therapy, orthotics and pain control. Even though it is the most frequent form of CMT,
CMT1A prevalence remains low with around 100,000 patients in Europe and the US combined. It is classified as an orphan disease.
Objective of our Survey
Better understanding of the CMT1A patient flow across the healthcare system (US and Europe) from presentation of first symptoms to treatment with supportive cares.
Methodology
In October 2014, an online questionnaire was administered to
128 neurologists from the US (32%) and Europe (68%).
Respondents were screened on their level of clinical activities
(>75%), ability to diagnose CMT and number of CMT patients
managed (> 5).
Characteristics of the Sample
Respondents followed a pool of over 2,000 CMT1A patients
Average
Years in practice 13
CMT patients diagnosed per year 37
CMT patients managed 41
Adult CMT1a patients 12
Pediatric CMT1a patients 5
Physician Setting of Care
Geographical Distribution
In adults, the vast majority (80%) seek medical care
because of symptoms rather than CMT family history. In
contrast, pediatric patients seek help due to both
symptoms (60%) and family history (40%).
The CMT Patient Journey Map from First Symptoms to Treatment
Physician responses are weighted by their treated patient population. *Specialists = Neurologists, physiotherapists, orthopedists, podiatrists
1 Age of Symptom Onset
2 Patient Referral Process
Physical therapy, orthotics and pharmacotherapy are the
most frequent supportive cares for CMT1A.
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Treatment of CMT1A Patients: Adult and Pediatric
3 Suspicion of CMT by Type of Specialists
The majority of patients (65%) (adult and pediatric) do
not suspect they have CMT based on presenting
symptoms. Amongst those who suspect CMT, most of
the time their suspicion is due to family history of CMT.
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Diagnostic tools used by neurologists surveyed:
- Clinical evaluation of symptoms in 100% of cases.
It is considered as a key element.
- Electrophysiological testing almost in 100% of
adult cases but less frequently in children (70%-80%).
- DNA testing is consistently used but not
systematically (85-95% of respondents)
- Main reasons for not offering DNA testing include:
expense / reimbursement limitations, patient
unwillingness, existing family history, lack of curative
treatment options and unwillingness to propose DNA
testing for mild CMT1A patients.
CMT Subtype Diagnosis
*
* Reasons for patient to decline include: patient fear to know, cost/reimbursement/insurance issues, lack of
curative treatment option, established family history of CMT
The majority of CMT1A patients, nearly 70%, are diagnosed within 2 years after first symptoms onset
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Tools used by neurologists surveyed to evaluate
disease severity:
- Clinical evaluation of symptoms (100%)
- Functional tests (60%)
- CMTNS / CMTES (50%/35%)
- ONLS (35%)
Distribution of Patients with CMT1A Severity
CMT1A DIAGNOSIS AND EVALUATIONSYMPTOM AWARENESS AND REFERRAL
CMT1A TREATMENT