treadmill, stretching and proprioceptive exercise (trespe) rehabilitation program for charcot-marie-tooth neuropathy type 1a (cmt1a)

Conditions: Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth Disease Type 1A

Summary: charcot-marie-tooth neuropathy type 1a (cmt1a) is one of the most common inherited neurological disorders. the study will evaluate the efficacy and safety of an innovative rehabilitation protocol constituted by exercises at the treadmill and by a stretching and proprioceptive approach. a total of 92 patients will be enrolled in the study and treated in a controlled, randomized, single blind, way. to recruit a high number of patients with cmt1a the study will be multicentric and will comprehend four of the most active clinical centers in the field of cmt, in italy. people with cmt1a are very motivated in entering rehabilitation protocols because to date there is no effective therapy for this disease. therefore, the investigators expect a high compliance by the patients. with the present project the investigators plan to clarify several unanswered questions: 1) the efficacy and safety of treadmill over a more conventional protocol; 2) the duration and frequency of any rehabilitation treatment; 3) the most sensitive outcome measures to evaluate the efficacy of rehabilitation approach in patients with cmt.

a multicentre, prospective, randomised, controlled, single blind study to evaluate the impact of aerobic exercise, based on a tightly controlled program at the treadmill, on the rehabilitation therapy of cmt 1a neuropathy. comparing aerobic training at the treadmill combined with respiratory physiotherapy, stretching and proprioceptive exercises (trespe- treated group) with a more conventional treatment only composed by respiratory physiotherapy, stretching and proprioceptive exercises (spe- control group) will provide information on the impact of treadmill in cmt1a. 92 patients (23 per centre) will be enrolled and randomly assigned to trespe (n = 46) or to spe (n = 46). both groups will be treated for three months and followed up for six months. no serious side effects are expected with trespe, as also suggested by our preliminary results. for safety reasons blood pressure (bp), heart rate (hr) and an electrocardiogram will be recorded during the rehabilitation treatment when the treating physician considers it necessary. the patients will be allowed, if needed, to hold at the parallel bars of the treadmill during exercise. according to the american thoracic society (ats) guidelines the cardiopulmonary exercise test will be interrupted if bp raises at 240/120 and/or hr to 220-patients age.

Eligibility criteria:
inclusion criteria: * clinical diagnosis of cmt1a * genetic confirmation (17p112 chromosome duplication) * age 18 - 70 years old * ability to accomplish the primary outcome measure (10 meter walking test) without support, with or without ankle foot orthoses (afo) * ability to walk on a treadmill on a horizontal plane for 20 minutes at a speed of 1.5 km/h with or without support at the bars * score at the mobility scale between 2 and 11 * signed written informed consent to participate exclusion criteria: * diagnosis of hereditary neuropathy with liability to pressure palsies (hnpp) or any other type of cmt * other associated causes of neuropathy * vestibular affections, psychiatric, cardiovascular and lung disorders or severe arthropathic changes in the lower limbs * non ambulating patients or patients always requiring even monolateral support to walk * other neurological disorders

Keywords: charcot-marie-tooth disease, cmt1a, rehabilitation, treadmill, stretching, proprioception, randomised controlled trial.