Specialty
Paediatric Neurology
Developmental Behavioural Paediatrics

Honorary Consultant
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital
Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital

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

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

• 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

• 2024 - ongoing: 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)
• 2024- ongoing: A Phase 3, Multinational, Long-Term Follow-Up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received SRP-9001 in a Clinical Study (EXPEDITION)
• 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)
• 2022- 2024: 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

1. Medium-term immunogenicity of three doses of BNT162b2 and CoronaVac in Hong Kong neuromuscular disease patients. Yu MKL, Chan SHS, Leung D, Cheng S, Tsang LCH, Kwan TC, Zhang KY, Wang X, Tu WW, Peiris M, Lau YL, Rosa Duque JS. Hum Vaccin Immunother. 2024 Dec 31;20(1):2424615. doi: 10.1080/21645515.2024.2424615.
2. Effectiveness of nirmatrelvir/ritonavir in children and adolescents aged 12-17 years following SARS-CoV-2 Omicron infection: A target trial emulation. Wong CKH, Lau KTK, Au ICH, Chan SHS, Lau EHY, Cowling BJ, Leung GM. Nature Communications. 2024 Jun 8;15(1):4917. doi: 10.1038/s41467-024-49235-8.
3. Nusinersen initiation after onset of weakness does not prevent progression of hip instability. Kuong EE, Ip HNH, So NLW, To MKT, Chow W, Wong JSH, Chan SHS. Journal of Pediatric Orthopaedics. 2024 Aug 44(7):p e657-e661. DOI: 10.1097/BPO.0000000000002709
4. Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression. Ip HNH; Yu MKL; Wong WHS; Liu A; Kwan KYH, Chan SHS. Journal of neuromuscular diseases. 2024 Feb 11;2:349-359. DOI: 10.3233/jnd-230077
5. 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.
6. 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.
7. 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.
8. 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.
9. 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/]
10. 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.
11. 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.
12. 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.
13. 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.
14. 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

• 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: To enhance critical thinking, problem solving, knowledge discovery and teamwork.
• Teacher for MBBS Junior, senior and subspecialty clerkships on paediatric neurology and developmental paediatrics
• Trainers for Paediatric specialty trainees. Trainers for Paediatric Neurology subspecialty trainees.
• Supervisor of RPG students

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. 6 Best Poster Presentations & 3 Best Oral Presentations
   • Genetic diagnosis and clinical characterisation of Facioscapulohumeral Muscular Dystrophy in Hong Kong Chinese patients using molecular combing and whole exome sequencing.
     MKL Yu, Y Gao, S Pang, AKY Kwong, PTW Law, H Khan, Y Cheng, W Andong, WN Lee, GCF Chan, SHS Chan* [ PI, Supervisor]
     The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing Joint Annual Scientific meeting on 6th Nov 2022.
     Best Oral Presentation 2nd price [presented by PhD student Mr Yu]
   • Ranking variant pathogenicity using Exomiser facilitated the identification of the missing second mutation in three recessive cases of congenital myopathy.
     Y Lei, W Yang, SHS Chan* [PI, Supervisor]
     The 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022
     First Price – E-Poster Presentation [Presented by MPhil student Mr Lei]
   • Genetic diagnosis of facioscapulohumeral muscular dystrophy in Hong Kong Chinese patients using molecular combing
     AKY Kwong, Y Gao, S Pang, PTW Law, MKLYu, SY Cheng, GCF Chan, SHS Chan* [PI, Supervisor].
     The 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022
     Third Price – E-Poster Presentation [Presented by Postdoc Ms Kwong]
   • The impact of nusinersen treatment on musculoskeletal progression in patients with spinal muscular atrophy.
     HHN Ip, MKY Yu, PK Cheng, KYH Kwan, NLW So, E Kuong, SHS Chan* [PI, supervisor].
     The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing Joint Annual Scientific meeting on 30th October 2021.
     Best Oral Presentation 2nd price [Presented by final year MBBS student Ms. Ip]
   • TTN mutations in limb girdle muscular dystrophy with calpainopathy-like presentation in 2 siblings.
     Y Lei, W Yang, SHS Chan*[PI, Supervisor].
     The 19th Asian-Oceanian Myology Center Meeting, Busan Korea, June 10-11, 2021
     Best Poster Presentation [Presented by MPhil student Mr.Lei]
   • Improvement in health-related quality of life in patients and their families, with SMA after 1 year of nusinersen treatment.
     YS Chau, MKY Yu , HHN Ip , RHL Cheng, PL Lam , P Cheng , SL Lee , GCF Chan , BYT Ip , SHS Chan*. [PI, Supervisor].
     The Joint Annual Scientific Meeting 2020 jointly organized by the Hong Kong Paediatric Society, HK College of Paediatricians, HK Paediatric Nurses Association, HK College of Paediatric Nursing. Hong Kong Children’s Hospital. 7 Nov 2020.
     Best Poster Presentation [Presented by SMA nurse coordinator Ms Chau]
   • Reliability and validity of performance of the upper limb module for Chinese patients with Duchenne muscular dystrophy: A new useful clinical tool to monitor the disease progress and as outcome measure for therapeutic drug trial.
     CW Lo, CCK Hui, SWC Choi, SL Lee, SHS Chan* [PI, Supervisor]
     The Joint Annual Scientific Meeting 2019 jointly organized by the HK Paediatric Society, HK College of Paediatricians, HK Paediatric Nurses Association, HK College of Paediatric Nursing. Hong Kong Children’s Hospital. 28 Sep 2019.
     Best Poster Presentation [Presented by research assistant Mr Lo]
   • Generation of Induced pluripotent stem cells from Peripheral Blood Mononuclear Cells of an X-linked Dilated Cardiomyopathy Patient.
     R Liang, MR Deng, AHY Law, K Boheler, SHS Chan*, GCF Chan*.[PI, supervisor]
     The 2nd Joint Annual Research & Scientific Meeting 2018. Hong Kong. 28 Jul 2018.
     Best Poster Presentation [Presented by research assistant Mr Liang]
   • Congenital myopathies :Characteristic clinical features and subtypes in Hong Kong.
     Chan SHS*, Ho RSL, Chan AOK, Ip JJK, Wong S, Ng GSF, Lee HCH, Cheng Y, Liu KT, Lee CN , Fung STH, Cherk SWW, Chan TSK, Lam WMW, Shek WH, Wong VCN. [PI, Presenter]
     The 29th Annual Scientific Meeting of the Hong Kong Neurological Society on 5 Nov 2016
     Best Free Paper Oral Presentation.

2023	Co-Chairman of 21st Asian & Oceanian Myology Center Meeting 26-28 Oct 2023, Shanghai, China https://aomc2023.sciconf.cn/en1/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/en1/about-our-society/

 

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

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