Maria Kinali

Professional background.

I am a paediatric neurologist with an interest in the clinical aspects, management and therapy for childhood neuromuscular diseases (NMD). Since 1999 I have been working at the Dubowitz Neuromuscular Unit (DNU), Hammersmith Hospital, Imperial College, London, as a Clinical Research Fellow with a year secondment as a Fellow in Paediatric Neurology at Great Ormond Street Hospital, London.

I have completed an MD in management and long-term outcomes in Duchenne Muscular Dystrophy (DMD) and have contributed to the delineation of the natural history of a number of NMD. Another area that has received particular attention in my work is the pharmacological interventions and supportive measures that could be offered to individuals with NMD. In 1999 I coordinated the UK steroid trial in DMD, which involved the smooth integration of a study in 14 UK neuromuscular Centres. This work was funded by the European Parent Project. In view of my interest in translational research I have also helped to set up a Rare Diseases biological samples bank (Biobank) for research to facilitate pharmacological, gene and cell therapy trials in NMD at the Hammersmith Trust.

Work related to the exon skipping project.

In April 2005 I was appointed as the Senior Clinical Research Fellow and Consultant Paediatrician, a position funded by the Department of Health with the task to coordinate the Phase I/II Clinical Trial using Antisense Oligonucleotides in Duchenne Muscular Dystrophy. My preclinical studies in collaboration with the other members of the MDEX consortium have shown that muscle MRI as a non-invasive tool correlates well with the muscle pathology of the Extensor digitorum brevis muscle, the target muscle for the intramuscular delivery trial.

I have also worked on the feasibility and reliability of Quantitative muscle testing (QMT) and its correlation with other measures of muscle strength or function in DMD as surrogate markers of efficacy for future clinical trials. As a co-investigator in this clinical trial I am also interested in understanding the relation between motor function, dystrophin expression (revertant fibres) and age in DMD boys.

Relevant references

Arechavala V, Graham I, Adams A, Popplewell L, Aartsma-Rus A, Kinali M, Morgan J, van Deutekom J, Wilton S, Dickosn G, Muntoni F. Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Human Gene Therapy, 2007; 18(9):798-810.

Links

http://www.hhnt.org/childrensneuromuscular/ourstaff/index.htm

http://www1.ic.ac.uk/medicine/people/m.kinali/

http://clinicaltrials.gov/ct/show/NCT00159250

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