• Selby, Kathryn A.

    Titles

    Investigator, BC Children's Hospital
    Clinical Assistant Professor, Department of Pediatrics, University of British Columbia

    Degrees / Designations
    B.Sc. MBChB, MRCP, FRCPC
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Phone
    604-875-2121
    Fax
    604-875-2285
    Lab Phone
    Mailing Address

    BC Children's Hospital
    4480 Oak Street
    Vancouver, BC V6H 3V4

    Affiliate Websites
    Research Areas
    • New Treatments in Duchenne’s Muscular Dystrophy (DMD)
    • Long-term steroids in DMD
    • Development of a DMD Registry in Canada
    • The use of Idebenone in Friedreich's Ataxia
    • Ketogenic Diet Development
    • Chronic headaches and migraine
    • Metanalysis of cortical venous sinus thrombosis
    Summary

    My main area of interest is neuromuscular disorders. I have a particular focus on Duchenne Muscular Dystrophy (DMD). Neuromuscular disorders involve many disciplines. A greater understanding of genetics is leading to greater knowledge and the potential for more definitive treatment for neuromuscular disorders in childhood.

    We are now developing a Canadian Registry of children with DMD and with congenital myotonic dystrophy, and are now involved with clinical trials of new potential treatments.

    In view of the fact that these children are now living into adulthood, we are also establishing a protocol for a natural history study of our affected young adults. We wish to ensure we can provide the most appropriate management.

    Current Projects

    PTC-DMD Study - A Phase 2b Efficacy and Safety Study of PTC124 in Subjects with Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy
    The development of PTC124 offers a novel therapeutic approach to the treatment of genetic disorders: coupling the identification of patients with a specific type of genetic defect with a small-molecule therapy that has the potential to correct the phenotypic expression of that genetic defect. 

    We hypothesize that the mean change in 6MWD from Day 1 (Visit 3 – Baseline) to Week 48 (Visit 11 – End-of-Treatment) will be 30 meters longer in at least one of the PTC124 arms than in the placebo arm. The primary objective of this study is to evaluate the ability of PTC124 to improve ambulation as assessed by change in 6MWD.

    MIT Study – A Retrospective Review of the Diagnostic Outcome of Skeletal Muscle Biopsy for Suspected Mitochondrial Disease at BC Children's Hospital
    The study includes a 5 year retrospective chart review of the diagnostic outcome of pediatric patients who have undergone a skeletal biopsy for a suspected mitochondrial disease at BC Children's between January 1998 and June 2003.

    The objectives of the study include:

    • To evaluate the diagnostic outcome of patients who have undergone a skeletal biopsy for a suspected mitochondrial disease for quality assurance purposes
    • To determine the number of patients that received a diagnosis of mitochondrial disease using other diagnostic tests
    • To identify patients’ factors that predict a higher skeletal muscle biopsy yield
    • To establish detailed demographic and clinical patient database
    Selected Publications

    Brunetti-Pierri N, Selby K, O'Sullivan M, Hendson G, Truong C, Waters P, Wong L.  Rapidly Progressive Neurological Deterioration in a child with Alpers Syndrome exhibiting a previously unremarkable brain MRI.  Neuropediatrics.  2008.  39(3):179-183. PMID: 18991199

    Gibson P, Newton RW, Selby K, Price DA, Leyland K, Addison GM.  Longitudinal study of thyroid function in Down's syndrome in the first two decades.  Arch. Dis. Child.  2005.  90:574-578. PMID: 15908619

    Spacey SD, Szczygielski BI, Young SP, Hukin J, Selby K, Snutch TP.  Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.  Can. J. Neurol. Sci.  2004.  31(3):383-386. PMID: 15376485

    Grants
    Honours & Awards
    The Laura MacRae Award, 1995
    Research Group Members
    • Dr. Vesna Popovska – Research Manager
    • Marija Bucevska – Research Assistant