Charcot-Marie-Tooth disease type 1A CMT1A MedDRA version: 6.1 Level: HLGT Classification code 10034606
Conditions
Interventions
Trade Name: CEBION 500MG 20CPR MAST.ARAN
Pharmaceutical Form: Chewable tablet
INN or Proposed INN: ACIDO ASCORBICO DC.IT
CAS Number: 50-81-7
Concentration unit: mg milligram(s)
Concentration type: e
Sponsors
ISTITUTO NEUROLOGICO CARLO BESTA
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Clinical diagnosis of CMT1A; 2. Genetic confirmation of CMT1A diagnosis, based on presence of the 17p11.2 duplication; 3. CMT Neuropathy Score CMTNS between 1 excluding the electrophysiological component and 35 including the electrophysiological component Shy ; 4. Age 18-70 years; 5. Ability to accomplish the primary outcome measures; 6. Women of child-bearing age only if they declare not to be pregnant or breast feeding at the inclusion into the study and to avoid becoming pregnant during the study; 7. Signed informed patient consent. Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. Clinical or echographic diagnosis of nephrolithiasis; 2. Positive history of recurrent renal colics; 3. One or more episodes of renal colic during the 6 months prior to the enrolment; 4. Deficit of Glucose-6P-Dehydrogenase G6PD ; 5. Acquired or hereditary haemochromatosis; thalassemia major; syderoblastic anaemia; 6. Treatment with ramified chain amino-acids or other drugs considered as potential therapeutic agents for CMT1A during the three months prior to screening; 7. AA consumption in the three months prior to screening; 8. Other causes of neuropathy e.g. diabetes, monoclonal gammopathy, neoplasms, B12 deficiency, HCV-related liver disease ; 9. Presence of other neurological disorders such as multiple sclerosis, cerebrovascular diseases, movement disorders , or major comorbidities e.g., definite cognitive impairment, psychiatric disease, heart or lung failure, orthopaedic or rheumatological disorders ; 10. Limb surgery during in the six months prior to screening or planned before final assessment .
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Secondary Objective: To develop and validate an evaluation protocol that is suitable for future trials in CMT disease. To establish a network of centres with long-lasting experience in CMT in which such a protocol can be homogeneously applied.;Primary end point(s): The predefined primary outcome criterion is the effect of AA treatment on the CMTNS Shy .;Main Objective: To assess the efficacy and safety of chronic treatment with ascorbic acid versus placebo in CMT1A through a multicentre randomised double-blind controlled trial. | — |
Countries
Italy
Outcome results
None listed