Dr. Chan Hoi Shan Sophelia (陳凱珊)

MBBS(HK), MRCP(UK), MMedSc(HK), FHKAM(Paed), FHKCPaed, MD(HK)

 

Clinical Associate Professor

Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine,

The University of Hong Kong

 

Honorary Consultant

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital

Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital

Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital

 

Honorary Consultant

Department of Pediatrics, The University of Hong Kong-Shenzhen Hospital

 

Specialty

Paediatric Neurology

Developmental Behavioural Paediatrics

 

Contact

Tel: Fax: Email: Office:

(852) 22554091 (852) 22554089 sophehs@hku.hk Department of Paediatrics & Adolescent Medicine Room 115, 1/F, New Clinical Building 102 Pokfulam Road, Queen Mary Hospital, Hong Kong

 

ORCID ID: https://orcid.org/0000-0002-2990-0163

World Muscle Society: Meet the Member Sophelia
https://www.worldmusclesociety.org/news/view/meet-the-members-dr-sophelia-chan

 

RESEARCH FOCUS

• Multi-omic diagnosis for difficult-to-diagnose neuromuscular diseases
• Application of stem cell technology as disease model to study muscular dystrophies
• Clinical care advancement for neuromuscular diseases with complex medical needs
• Understanding of paediatric immune-mediated neurological disorders

 

Multi-national Clinical Trials (As Principal Investigator)

Spinal Muscular Atrophy

• 2017-2022: An open label extension study for patients with spinal muscular atrophy who previously participated in investigational studies of ISIS 396443
• 2015-2017: A phase 3, randomized, double-blind, sham-procedure controlled study to assess the clinical efficacy and safety of ISIS 396443 administered intrathecally in patients with infantile onset or childhood onset spinal muscular atrophy
• 2018-2019: 脊體脊髓性肌萎縮症基因檢查測試劑盒(PCR-荧光探針法)臨牀試驗

Duchenne Muscular Dystrophy

• 2023 (site initiation in preparation): A Phase 3, Multinational, Randomized, Double‐Blind, Placebo‐Controlled Systemic Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of SRP‐9001 in Non‐Ambulatory and Ambulatory Subjects with Duchene Muscular Dystrophy (ENVISION)
• 2023 (site initiation in preparation): A phase 3, randomized, double‑blind, placebo‑controlled, multicenter study with a treatment and observation period to evaluate the safety and efficacy of Vesleteplirsen (SRP‑5051) in ambulatory subjects with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping treatment (MOTIVATE)
• 2022- ongoing: A phase 3 multinational, randomized, double-blind, placebo-controlled systemic gene delivery study to evaluate the safety and efficacy of SRP-9001 in subjects With Duchenne muscular dystrophy (EMBARK)
• 2021- 2023: A phase 3 randomised, double-blind, placebo-controlled multicenter study to assess the efficacy and safety of Viltolarsen in ambulant boys with Duchenne muscular dystrophy
• 2018-2021: A phase 3, randomised, double-blinded, placebo-controlled efficacy and safety study of Ataluren in patients with nonsense mutation Duchenne Muscular Dystrophy, open-label extension.

 

Major Research Grants (As Principal Investigator)

GRF 2022 – 2025: Dystrophinopathy patient-derived iPSC disease model for novel epigenetic mechanisms evaluation and advancing small molecules therapies development.

ITF 2022 – 2025: A unique patient-specific tissue engineering and drug discovery platform of precision medicine for dystrophin-deficient cardiomyopathy of Southern Chinese.

TDG 2022-2023: Student Engagement and Partnership (STEP) Program – A pilot project for the Paediatrics curriculum

HMRF 2022-2024: Risk of cognitive impairment and microstructural brain alteration, and its genetic regulation in Duchenne muscular dystrophy

HKUMed Research Fellowship Scheme Award 2022-2023: Reprogramming and directed differentiation of skeletal muscle cells from patient-derived induced pluripotent stem cells for muscular dystrophy disease modelling.

Start-Up Research Grant 2017-2019: Study of transcription factors and application of CRISPR- Cas9 strategy to target intron 1 splice site mutation of a patient with X-linked dilated cardiomyopathy in restoring the dystrophin level in the cardiac muscle cells.

HMRF 2016-2018: Comprehensive Mutation Analysis for childhood-onset neuromuscular disorder in Chinese patients using Next Generation Sequencing Panels

 

SELECTED PUBLICATIONS IN PEER-REVIEWED JOURNALS

1. Treatment of symptomatic spinal muscular atrophy with nusinersen: a prospective longitudinal study on scoliosis progression. HNH Ip, MKL Yu, WHS Wong, A Liu, Kenny YH Kwan*, SHS Chan*. Journal of Neuromuscular Diseases. Neuromuscul Dis. Published online February 15, 2024. doi:10.3233/JND-230077
2. A pilot study of an integrated, personalized, respiratory and motor telerehabilitation program for pediatric patients with hereditary neuromuscular disorders. Yu MKL, Chiu AYY, Chau SK, Rosa Duque JS, Wong WHS, Chan SHS*. Muscle Nerve. 2023 Nov;68(6):857-864. doi: 10.1002/mus.27982.
3. Hesitancy, reactogenicity, and immunogenicity of the mRNA and whole-virus inactivated covid-19 vaccines in pediatric neuromuscular diseases. MKL Yu, SHS Chan, S Cheng, D Leung, SM Chan, ASK Yan, WHS Wong, M Peiris, YL Lau, JSR Duque. Human Vaccines & Immunotherapeutics. 2023 May 9:2206278. doi: 10.1080/21645515.2023.2206278.
4. CHKB-Related Muscular Dystrophy. Chan SHS, & Nishino I. (2023). CHKB-Related Muscular Dystrophy. 2023 Mar 30. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
5. Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study. Kwong AK, Zhang Y, Ho RS, Gao Y, Ling X, Tsang MH, Luk HM, Chung BH, Bönnemann CG, Javed A*, Chan SH*. Neuromuscular Disorders. 2023 Mar 12;33(5):371-381. doi: 10.1016/j.nmd.2023.03.003. Epub ahead of print.
6. The role of the gut-microbiome-brain-axis in metabolic remodeling amongst children with cerebral palsy and epilepsy. Peng Y, Chiu ATG, Li VWY, Zhang X, Yeung WL, Chan SHS*, Tun HM*. Frontiers in Neurology. 2023 Feb 27;14:1109469. doi: 10.3389/fneur.2023.1109469.
7. Significant healthcare burden and life cost of spinal muscular atrophy: real-world data. Chan, SHS#*, Wong, CKH*, Wu T, Wong W, Yu MKL, Au ICH, & Chan GCF. The European Journal of Health Economics. 2022 Nov 20.doi: 10.1007/s10198-022-01548-5.
   https://doi-org.eproxy.lib.hku.hk/10.1007/ s10198-022-01548-5
   [https://smanewstoday.com/news/costs-sma-extremely-high-prior-disease-modifying-treatment/]
8. Guillain-Barré syndrome in children - High occurrence of Miller Fisher syndrome in East Asian region. Chiu ATG, Chan RWK, Yau MLY, Yuen ACL, Lam AKF, Lau SWY, Lau AMC, Fung STH, Ma KH, Lau CWL, Yau MM, Ko CH, Tsui KW, Ma CK, Tai SM, Yau EKC, Fung E, Wu SP, Kwong KL, Chan SHS*. Brain and Development. 2022 Jul 26:S0387-7604(22)00116-4. doi: 10.1016/j.braindev.2022.07.003.
9. Clinical spectrum and burden of influenza-associated neurological complications in hospitalised paediatric patients. Yu MKL, Leung CPP, Wong WHS, Ho ACC,Chiu ATG, Zhi HH, Chan GCF, Chan SHS*. Frontiers in Pediatrics. 2022 Jan 20;9:752816. doi: 10.3389/fped.2021.752816.
10. Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series Hong Kong. Leung WY, Luk HM, Vardhanabhuti V, Hui KF,Lau WY, Young TPH, Li JTC, Fung ELW, Chiu ATG, Lo IFM, Chung BHY, Cheung YF, Chan SHS*. Hong Kong Medical Journal. 2021 Dec;27(6):444-449. doi: 10.12809/hkmj209001.
11. Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions. Chan SH#*, Chae JH, Chien YH, Ko TS, Lee JH, Lee YJ, Nam SO, Jong YJ*. Journal of Neurology, Neurosurgery and Psychiatry. 2021 Nov;92(11):1244-1246. doi: 10.1136/jnnp- 2020-324532.
12. Prevalence and healthcare utilization of rare neurological diseases in HK: 2014-2018. Chiu ATG, Li J, Chang RSK, Chung CCY, Wong WHS, Ip P, Chan SHS* European Journal of Neurology. 2021 Jul;28(7):2305-2312. doi: 10.1111/ene.14852.

See full list of publication
 

CLINICAL SERVICE

• Provide Paediatric Neurology consultation and electrophysiological diagnostic services for both in-patients and out-patients.
• Lead the Paediatric Neuromuscular Disorder Program and the SMA Treatment Program, receiving referral from all hospitals in HK

 

TEACHING

• Teaching philosophy: Strive to cultivate critical thinking, foster problem-solving skills, ignite the pursuit of knowledge discovery, and encourage collaborative teamwork.
• Appointment: Join the University of Hong Kong the Student in Medical and Health Sciences Education (SIMHSE) Team (https://www.med.hku.hk/en/teaching-and-learning/simhse/team) as a member since Jan 2024
• Teaching Development Grant: TDG 2022-2023: Student Engagement and Partnership (STEP) Program – A pilot project for the Paediatrics curriculum & successfully prepared 6 paediatric clinical examination videos with students as the teachers for MBBS teaching.
• Teacher: Teacher for MBBS students in Paediatric Junior, senior and subspecialty clerkships , as well as RPG students (MPhil. PhD).
• Trainer: Accredited Trainer for Paediatrics specialty trainees and Paediatric Neurology subspecialty trainees.

 

AWARDS

1. Awarded HKUMed Research Fellowship Scheme for Clinical Academics 2021-22
2. HKU Overseas Fellowship Award 2018-2019
   • Two months sabbatical training (Sept – Oct 2018) in the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NINDS NIH) under Prof. Carsten Bonnemann and his team.
3. Hospital Authority Outstanding Team Awards as Team Leader
   • 2016 Outstanding Team of the Hospital Authority (HA) -- Team Leader of the ‘Paediatric Neuromuscular Disorder Diagnostic and Management Program’ awarded at the 2016 Hospital Authority Convention, HK
   • 2015 Outstanding Team of the Hospital Authority (HA) Hong Kong West Cluster (HKWC) -- Team Leader of the ‘Paediatric Neuromuscular Disorder Diagnostic and Management Program’ awarded at 2015 in Queen Mary Hospital, HK
4. 8 Best Poster Presentations & 4 Best Oral Presentations

   See full conference paper list

 

SCIENTIFIC AND PROFESSIONAL APPOINTMENTS

2023	Co-Chairman of 21st Asian & Oceanian Myology Center Meeting 26-28 Oct 2023, Shanghai, China https://aomc2023.sciconf.cn/en/web/index/17679
2023 – Present	Member of World Muscle Society Equity, Diversity, Inclusion Committee https://www.worldmusclesociety.org/page/equity-diversity-and-inclusion
2022 – Present	Member of Belt and Road Regional Standardization Committee of LSEA (Belt and Road Life Science Economy Alliance) - Recently support the application specification of DMD mutation detection based on high-throughput sequencing technology.
2022 – Present	Member of TREAT-NMD Global Data System Oversight Committee for NMD patient registry (PI for HKU NMD patient registry) https://treat-nmd.org/patient-registry/hong-kong-neuromuscular-disorders-patient-registry-hknmdr/
2018 – Present	Member of Spinal Muscular Atrophy Expert Panel, Hospital Authority
2015 – Present	Executive Board Member of Asian Oceanian Myology Center (HK Representative) https://www.aomc.info/members/members_op.php
2015 – Present	President of Hong Kong Society of Neuromuscular Diseases https://www.hksnmd.org/en/about-our-society/

 

HKU Paediatric NMD http://paed.hku.hk/website/nmd/disease.html

HKU NMD Patient Registry https://neuromusreg.hkuhealth.com/