CMTNS and other outcome measures in CMT lA: data from Ascorbic Acid trials

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CMTNS and other outcome measures in Charcot-Marie-Tooth disease type lA (CMTlA):

data frum the trials with Ascorbic Acid (CMT-TRIAAL and CMT-TRAUK).

D. Pareyson1, A. Schenone2, G.M. Fabrize, L. Santoro4, A. Quattrone

S, G. Vita6 , L.Padua7, F. Gemignani8 , F. Visioli9, M. lO

, M. M. ReillylO, D. Calabrese1, A. Solari, for the CMT-TRIAAL & CMT-TRAUK Group

IIRCCS Foundation, CBesta Neurological Institute, Milan, Italy; 'University

Department of Neurology, Ophthalmology and Genetics, Genoa, Italy; 'University

Department of Neurological and Visual Sciences, Section of Clinical Neurology,

Verona, Italy; 'Federico II University Department of Neurological Sciences,

Naples, Italy; 'University Neurology Clinic, Messina, Italy; 'University

Neurology Clinic, Catanzar'o, Italy;

'Catholic University Department of Neurosciences, Rome, Italy; 'University

Neurology Clinic, Parma, Italy;

'Department of Pharmacological Sciences, University School of Pharmacy, Milan,

Italy; IJMRC Centre for Neuromuscular diseases, London, UK

CMT-TRIAAL and CMT-TRAUK are parallel, randomized, double blind,

placebo-controlled studies with ascorbic acid (1500 mg/day) 01 placebo in

Charcot-Malie-Tooth disease type lA (CMTIA) adults. Overall there ale 271

recruited patients (60% females; mean age 42 yrs, SD 13, range 18-70).

The CMT Neuropathy Score (CMTNS) is the primalY outcome measure

Other outcome measures are: distal maximum voluntaly isometric contraction

(MVIC);manual strength assessment (MRC scale); lO-meter timed walking (TlOMW);

9-hole-peg test(9HPT); Overall Neuropathy Limitations Scale (ONLS); pain and

fatigue VAS; health-related

quality of life (SF-36); electrophysiology. Mean CMTNS at baseline was 14 (SD

4.. 8),corresponding to mild disease severity (CMTNS <11) in 26%, moderate in

65% and severe in 9% of patients. Age was corelated with disease severity as

expressed by CMTNS (p 0.001).

Females had higher CMTNS values (mean 14.6, SD 5..0 vs.. 132, SD 4..2; P0..02),

suggestive of more severe disease, but were older than males (mean 44 5, SD 1.0

vs 39 6, SD 1..2; P 0002); and multivaliate regression analyses confirmed the

effect of age (p 0001) but not of

sex on disease severity ONLS, TlOMW, 9HPT, MVIC, MRC values, SF36 scores

worsened with increasing age decades.

VAS scores showed that pain 368 (3.02) and fatigue 487 (2..81) ale major

complaints in CMTlA CMTNS values were divided in tertiles (1-12; 13-16; >16) and

correlation with other outcome measures explored: impairment and disability as

assessed by MVIC, TlOMW, 9HPT, ONLS and VAS showed good couelation with CMTNS

tertiles; patients with higher CMTNS values had worse Quality of Life.

This is the lalgest series of CMTlA patients studied thus far. Impairment,

disability and QoL worsen with increasing age. CMTNS is a good measure of

disease severity.