Imperial College London
Alternate

ProfessorRichardFestenstein

Faculty of Medicine, Department of Brain Sciences

Clinical Professor of Molecular Medicine
 
 
 
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Contact

 

+44 (0)20 3313 8310r.festenstein

 
 
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Assistant

 

Ms Hyacinth Henry +44 (0)20 3313 3172

 
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Location

 

London Institute of Medical Sciences, Mansfield BuildingNeptune BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Reetz:2019:10.1186/s42466-019-0038-9,
author = {Reetz, K and Hilgers, R-D and Isfort, S and Dohmen, M and Didszun, C and Fedosov, K and Kistermann, J and Mariotti, C and Durr, A and Boesch, S and Klopstock, T and Rodríguez, de Rivera Garrido FJ and Schöls, L and Klockgether, T and Pandolfo, M and Korinthenberg, R and Lavin, P and Molenberghs, G and Libri, V and Giunti, P and Festenstein, R and Schulz, JB and EFACTS, or NICOFA study group},
doi = {10.1186/s42466-019-0038-9},
journal = {Neurological Research and Practice},
title = {Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)},
url = {http://dx.doi.org/10.1186/s42466-019-0038-9},
volume = {1},
year = {2019}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Introduction: Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene. Nicotinamide acts as a histone deacetylase inhibitor. Dose escalation studies have shown, that short term treatment with dosages of up to 4 g/day increase the expression of FXN mRNA and frataxin protein up to the levels of asymptomatic heterozygous gene carriers. The long-term effects and the effects on clinical endpoints, activities of daily living and quality of life are unknown. Methods: The aim of the NICOFA study is to investigate the efficacy and safety of nicotinamide for the treatment of Friedreich ataxia over 24 months. An open-label dose adjustment wash-in period with nicotinamide (phase A: weeks 1-4) to the individually highest tolerated dose of 2-4 g nicotinamide/day will be followed by a 2 (nicotinamide group): 1 (placebo group) randomization (phase B: weeks 5-104). In the nicotinamide group, patients will continue with their individually highest tolerated dose between 2 and 4 g/d per os once daily and the placebo group patients will be receiving matching placebo. Safety assessments will consist of monitoring and recording of all adverse events and serious adverse events, regular monitoring of haematology, blood chemistry and urine values, regular measurement of vital signs and the performance of physical examinations including cardiological signs. The primary outcome is the change in the Scale for the Assessment and Rating of Ataxia (SARA) over time as compared with placebo in patients with Friedreich ataxia based on the linear mixed effect model (LMEM) model. Secondary endpoints are measures of quality of life, functional motor and cognitive measures, clinician's and patient's global impression-change scales as well as the up-regulation of the frataxin protein level, safety and
AU  - Reetz,K
AU  - Hilgers,R-D
AU  - Isfort,S
AU  - Dohmen,M
AU  - Didszun,C
AU  - Fedosov,K
AU  - Kistermann,J
AU  - Mariotti,C
AU  - Durr,A
AU  - Boesch,S
AU  - Klopstock,T
AU  - Rodríguez,de Rivera Garrido FJ
AU  - Schöls,L
AU  - Klockgether,T
AU  - Pandolfo,M
AU  - Korinthenberg,R
AU  - Lavin,P
AU  - Molenberghs,G
AU  - Libri,V
AU  - Giunti,P
AU  - Festenstein,R
AU  - Schulz,JB
AU  - EFACTS,or NICOFA study group
DO  - 10.1186/s42466-019-0038-9
PY  - 2019///
SN  - 2524-3489
TI  - Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)
T2  - Neurological Research and Practice
UR  - http://dx.doi.org/10.1186/s42466-019-0038-9
UR  - https://www.ncbi.nlm.nih.gov/pubmed/33324899
UR  - http://hdl.handle.net/10044/1/87572
VL  - 1
ER  -
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