Kathryn A Selby

FRCPC, BSc, MRCP, MBBCH

Investigator, BC Children's Hospital

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.

Academic Affiliations

  • Clinical Assistant Professor, , Department of Pediatrics, Faculty of Medicine, University of British Columbia
  • Research Theme: Childhood Diseases
  • Research Group(s): Rare Diseases

Contact Information

Location

4500 Oak St, Vancouver, BC, Canada, V6H 3N1

Results of a phase II open-label, multiple-dose study of vamorolone (VBP15-006) in 7- to < 18-year-old boys with duchenne muscular dystrophy

Journal of Neurology

Hanns Lochmller and Hernan Gonorazky and Elisa Nigro and Jean K. Mah and Alberto Alemn and Amanda Yaworski and Maryam Oskoui and Anne Marie Sbrocchi and Kathryn Selby and Ana de Vera and Laura McAdam and Ekaterina Gresko and Aki Linden and Catherine Dutreix and Eric P. Hoffman

DOI: 10.1007/s00415-026-13711-6

03 / 2026

Building capacity for patient-engagement in neuromuscular disease research: A network project

Journal of Neuromuscular Diseases

Patricia Mortenson and Homira Osman and Erin Beattie and Corinne Kagan and Victoria Larocca and Claudia Maltais and Linda Niksic and Margo Thompson and Kathryn Selby

DOI: 10.1177/22143602251405819

12 / 2025

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives

Health Expectations

Homira Osman and Zainab Adamji and Stacey Lintern and Ian C. Smith and Alyssa Grant and Lola E.R. Lessard and Hanns Lochmuller and Hugh McMillan and Kathryn Selby and Gerald Pfeffer and Lawrence Korngut and Cynthia Gagnon and Kednapa Thavorn and Jodi Warman-Chardon

DOI: 10.1111/hex.70529

12 / 2025

Parental perspectives on family-centered care in pediatric neurology: An explanatory sequential mixed-methods study

Developmental Medicine & Child Neurology

Ege Sarikaya and Courtney B. Cook and Kathryn A. Selby and Ye Shen and Alison M. Elliott

DOI: 10.1111/dmcn.16275

10 / 2025

Empowerment in Adolescent Patients with a Disability/Chronic Condition: A Scoping Review

Children

Kennedy Austin and Carly Pistawka and Colin J. D. Ross and Kathryn Selby and Alice Virani and Vanessa Kitchin and Alison Elliott

DOI: 10.3390/children12010049

12 / 2024

High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia

Journal of Clinical Lipidology

Zoe White and Chady H. Hakim and Marine Theret and N. Nora Yang and Fabio Rossi and Dan Cox and Gordon A. Francis and Volker Straub and Kathryn Selby and Constadina Panagiotopoulos and Dongsheng Duan and Pascal Bernatchez

DOI: 10.1016/j.jacl.2020.05.098

07 / 2020

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drgemller BI and Abdelsayed M and Alfadhel M and Armstrong L and Baumgartner MR and Burda P and Connolly MB and Cameron J and Demos M and Dewan T and Dionne J

DOI: 10.1056/nejmoa1515792 PubMed: 27276562

06 / 2016

Canadian Paediatric Neurology Workforce Survey and Consensus Statement.

Doja A and Orr SL and McMillan HJ and Kirton A and Brna P and Esser M and Tang-Wai R and Major P and Poulin C and Prasad N and Selby K and Weiss SK and Yeh EA and Callen DJ

DOI: 10.1017/cjn.2015.360 PubMed: 26787257

05 / 2016

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Dias C and Sincan M and Cherukuri PF and Rupps R and Huang Y and Briemberg H and Selby K and Mullikin JC and Markello TC and Adams DR and Gahl WA and Boerkoel CF

DOI: 10.1002/humu.22032 PubMed: 22311686

04 / 2012

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.

Horvath GA and Selby K and Poskitt K and Hyland K and Waters PJ and Coulter-Mackie M and Stockler-Ipsiroglu SG

DOI: 10.1177/0333102411420584 PubMed: 22013141

11 / 2011

A population-based study of dystrophin mutations in Canada.

Mah JK and Selby K and Campbell C and Nadeau A and Tarnopolsky M and McCormick A and Dooley JM and Kolski H and Skalsky AJ and Smith RG and Buckley D and Ray PN and Yoon G

PubMed: 21515508

05 / 2011

Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.

Spacey SD and Szczygielski BI and Young SP and Hukin J and Selby K and Snutch TP

PubMed: 15376485

08 / 2004

Cerebrospinal fluid free choline in movement disorders of paediatric onset.

Pranzatelli MR and Hanin I and Tate E and Kindel G and Bergin A and Brown CM and Habersang P and Habersang R and Mack KJ and Rosenbaum B and Selby KA and Vasconcellos M

DOI: 10.1016/1090-3798(98)01003-3 PubMed: 10726844

Clinical predictors and radiological reliability in atlantoaxial subluxation in Down's syndrome.

Selby KA and Newton RW and Gupta S and Hunt L

DOI: 10.1136/adc.66.7.876 PubMed: 1830735

07 / 1991

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

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.

Honours & Awards

The Laura MacRae Award, 1995

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