Agarwal S, Lahiri K, Muranjan M, et al. 2015 The face of lysosomal storage disorders in India: a need for early diagnosis. Indian J. Pediatr. 82 525–529

Article  PubMed  Google Scholar 

Agencies 2014 100 Gaucher patients visit PM Narendra Modi demanding government help (The HealthSite.com) (https://www.thehealthsite.com/news/100-gauchar-patients-visit-pm-narendra-modi-demanding-government-help-188208/)

Ali SI 2016 Two-year-old boy first patient to get enzyme replacement therapy in Jaipur. Times of India (https://timesofindia.indiatimes.com/city/jaipur/two-year-old-boy-first-patient-to-get-enzyme-replacement-therapy-in-jaipur/articleshow/54970680.cms)

Amato D and Patterson MA 2018 Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports. J. Med. Case. Rep. 12 https://doi.org/10.1186/s13256-017-1541-7

Bennett LL and Fellner C 2018 Pharmacotherapy of Gaucher disease: current and future options. P T 43 274–280

PubMed  PubMed Central  Google Scholar 

Brady RO, Yang C, Zhuang Z, et al. 2013 An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain. J. Inherit. Metab. Dis. 36 451–454

Article  CAS  PubMed  Google Scholar 

CADTH 2017 Cost comparision CADTH (Pharmacoeconomic Review Report: Eliglustat (Cerdelga): (Sanofi Genzyme): Indication: Gaucher Disease Type 1 - Cost comparision) (https://www.ncbi.nlm.nih.gov/books/NBK534700/table/pe.app1.table12a/)

CDSCO 2018 Final list of r-DNA based drugs approved in the country (https://cdsco.gov.in/opencms/resources/UploadCDSCOWeb/2018/UploadBiologicalrDNA/rdnaform45.pdf)

Clinicaltrials.gov 2022 A multicenter, safety and efficacy study of taliglucerase alfa in subjects with type 3 gaucher disease (https://classic.clinicaltrials.gov/ct2/show/NCT04002830)

Delhi PNS 2018 Amid Govt’s U-turn, ICMR to form task force on rare diseases. The Pioneer (https://www.dailypioneer.com/2018/india/amid-govt---s-u-turn--icmr-to-form-task-force-on-rare-diseases.html)

Dey S 2019 Health ministry mulled compulsory licencing of rare disease drugs. Times of India (https://timesofindia.indiatimes.com/india/health-ministry-mulled-compulsory-licencing-of-rare-disease-drugs/articleshow/67412634.cms?from=mdr)

Drugs@CDSCO 2017 New drugs approved by CDSCO: Eliglustat capsules 84 mg (https://cdscoonline.gov.in/CDSCO/Drugs)

EMA 2015 Cerdelga (Eliglustat) epar-public -assessment report for an initial marketing authorisation application (EMA). Procedure No. EMEA/H/C/003724, Applicant: Genzyme Europe BV (https://www.ema.europa.eu/en/documents/assessment-report/cerdelga-epar-public-assessment-report_en.pdf)

FDA 2014 Drug approval package Cerdelga (Highlights of Prescription Information) (https://www.accessdata.fda.gov/drugsatfda_docs/label/2014/205494orig1s000lbl.pdf)

Gaedigk A, Dinh JC, Jeong H, et al. 2018 Ten years’ experience with the CYP2D6 activity score: a perspective on future investigations to improve clinical predictions for precision therapeutics. J. Pers. Med. 8 15

Article  PubMed  PubMed Central  Google Scholar 

Government of India 2016 & 2018 CDSCO - Approval of imiglucerase (2016) and valiglucerase (2018) in India (https://cdsco.gov.in/opencms/resources/UploadCDSCOWeb/2018/UploadBiologicalrDNA/rdnaform45.pdf)

Hoshitsuki K, Crews KR, Yang W, et al. 2020 Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. Genet. Med. 22 232–233

Article  PubMed  Google Scholar 

Hughes DA and Ferrante F 2022 GALILEO-1: a Phase I/II safety and efficacy study of FLT201 gene therapy for Gaucher disease type 1. Future Rare Dis. 3 1 FRD35 https://doi.org/10.2217/frd-2022-0019

Indian Patent Act 1970 THE PATENTS ACT, 1970, Section 84, Compulsory Licences (https://ipindia.gov.in/writereaddata/Portal/ev/sections/ps84.html)

IORD 2005 Indian Organization for Rare Disease (IORD) (https://www.rarediseases.in/)

Istaiti M, Frydman D, Dinur T, et al. 2023 High-dose ambroxol therapy in type 1 Gaucher disease focusing on patients with poor response to enzyme replacement therapy or substrate reduction therapy. Int. J. Mol. Sci. 24 1–10

Article  Google Scholar 

Kadali S, Kolusu A, Gummadi MR, et al. 2014 The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory’s experience from India. J. Child. Neurol. 29 1377–1382

Article  PubMed  Google Scholar 

Kasturi L and Amin Alpa S 2001 Enzyme replacement therapy in Gaucher’s disease. Indian Pediatr. 38 686–687

CAS  PubMed  Google Scholar 

Manmohan 2014 Mohd. Ahmed (Minor) vs Union Of India & Ors. on 17 April, 2014 petition. Indian kanoon (https://indiankanoon.org/doc/77985236/)

Mantthan R 2017 Karnataka was the first state to begin developing a Rare Diseases and Orphan Drugs Policy - Rare disease; orphan drugs. Mint (https://www.livemint.com/Opinion/a80dQAFVidRC94jCcoUJIL/Rare-diseases-orphan-drugs.html)

Manufacturers 2023 List of all Manufacturers, Suppliers & Exporters of Eliglustat Tartrate API listed on PharmaCompass with details of regulatory filings (https://www.pharmacompass.com/manufacturers-suppliers-exporters/eliglustat-tartrate)

Meher BR, Balan S, Mohanty RR, et al. 2019 Biosimilars in India; Current status and future perspectives. J. Pharm. Bioallied Sci. 11 12–15

Article  PubMed  PubMed Central  Google Scholar 

Mehta A, Ramaswami U, Muenzer J, et al. 2021 A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide. Orphanet J. Rare. Dis. 16 8

Article  PubMed  PubMed Central  Google Scholar 

Mhatre SP, Muranjan M and Gogtay NJ 2023 Economic burden of Gaucher disease at a tertiary care public hospital in Mumbai. Indian J. Pediatr. 7 https://doi.org/10.1007/s12098-023-04740-4

Mistry PK, Deegan P, Vellodi A, et al. 2009 Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br. J. Haematol. 147 561–570

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mistry PK, Kishnani PS, Balwani M, et al. 2023 The two substrate reduction therapies for type 1 Gaucher disease are not equivalent. Comment on Hughes et al. Switching between enzyme replacement therapies and substrate reduction therapies in patients with Gaucher disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158. J. Clin. Med. 12 https://doi.org/10.3390/jcm12093269

Muranjan M and Karande S 2018 Enzyme replacement therapy in India: Lessons and insights. J. Postgrad. Med. 64 195–199

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, et al. 2011 Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India India. Pediatr. 48 779–784

Article  CAS  Google Scholar 

NPRD 2021a Initiatives by the Government for treatment of rare diseases (https://pib.gov.in/PressReleasePage.aspx?PRID=1846230)

NPRD 2021b National Policy for Rare Disease (https://rarediseases.mohfw.gov.in/uploads/Content/1624967837_Final-NPRD-2021.pdf)

NPTRD 2017 National policy for treatment of rare diseases – 2017 (https://main.mohfw.gov.in/sites/default/files/Rare%20Diseases%20Policy%20FINAL_1.pdf)

Onderkova H 2021 Compulsory Licensing in India and changes brought to it by the TRIPS Agreement (https://intellectual-property-helpdesk.ec.europa.eu/news-events/news/compulsory-licensing-india-and-changes-brought-it-trips-agreement-2021-10-12_en)

ORDI 2013 Organization of rare disease India - Patient advocacy group (https://ordindia.in/)

Pandey A 2023 Nine pharma companies to get Rs 5,000 crore government support in five years; here is why. ZEEBUSINESS (https://www.zeebiz.com/economy-infra/policy-initiatives/news-centre-to-support-pharma-firms-in-rs-5000-crore-plan-to-develop-rare-disease-drugs-medical-devices-249508)

Peterschmitt MJ, Cox GF, Ibrahim J, et al. 2018 A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: evaluation of frequency, timing, and duration. Blood Cells Mol. Dis. 68 185–191

Article  PubMed  Google Scholar 

Pey AL 2020 Towards accurate genotype–phenotype correlations in the CYP2D6 gene. J. Pers. Med. 10 https://doi.org/10.3390/jpm10040158

Department of Pharmaceuticals 2023 Ministry of Chemicals & Fertilizers, Make In India policy (https://pharmaceuticals.gov.in/schemes)

Platt FM and Jeyakumar M 2008 Substrate reduction therapy. Acta Paediatr. 97 88–93

Article  PubMed  Google Scholar 

Puri RD, Kapoor S, Kishnani PS, et al. 2018 Diagnosis and management of Gaucher disease in India – Consensus guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatr. 55 143–153

Article  PubMed  Google Scholar 

Qi X, Xu J, Shan L, et al. 2021 Economic burden and health related quality of life of ultra-rare Gaucher disease in China. Orphanet J. Rare. Dis. 16 358

Article  PubMed  PubMed Central  Google Scholar 

Sahasrabudhe SA, Cheng S, Al-Kofahi M, et al. 2022 Physiologically-based pharmacokinetic model development, validation, and application for prediction of Eliglustat drug–drug interactions. Clin. Pharmacol. Ther. 112 1254–1263

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sam R, Ryan E, Daykin E, et al. 2021 Current and emerging pharmacotherapy for Gaucher disease in pediatric populations. Expert. Opin. Pharmacother. 22 1489–1503

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sanofi 1999 Fighting against rare diseases together (https://www.sanofi.in/en/about-us/empowering-life/)

Sherwani P, Vire A, Anand R, et al. 2016 Lung lysed: A case of Gaucher disease with pulmonary involvement. Lung India 33 108–110

Article  PubMed  PubMed Central  Google Scholar 

Sheth J, Mistri M, Sheth F, et al. 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep. 12 51–63

Article  PubMed  Google Scholar 

Shinoli J 2017 ICMR launches registry of rare diseases. Mymedicalmantra (https://mymedicalmantra.com/icmr-launches-registry-of-rare-diseases/)

Singh M 2010 Lysosomal Storage Disorders Support Society (LSDSS) (https://lsdssindia.org/)

Somaraju UR and Tadepalli K 2012 Hematopoietic stem cell transplantation for Gaucher disease. Cochrane Database Syst. Rev. 10 CD006974

Thacker T 2023 Government in talks with companies over pricing of rare diseases drugs. The Economic Times (https://m.economictimes.com/industry/healthcare/biotech/healthcare/government-in-talks-with-companies-over-pricing-of-rare-diseases-drugs/articleshow/102812544.cms)

Weinreb NJ, Andersson HC, Banikazemi M, et al. 2008 Prevalence of type 1 Gaucher disease in the United States. Arch. Intern. Med. 168 326–327

Article  PubMed  Google Scholar 

Weisman R 2014 New Genzyme pill will cost patients $310,250 a year. In: The Boston Globe.

Wenger DA, Coppola S and Liu S-L 2002 Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy. Genet. Med. 4 412–419

Article  CAS  PubMed  Google Scholar 

Zavesca : EPAR - Scientific Discussion 2003 Initial scientific discussion for the approval of Zavesca (https://www.ema.europa.eu/en/medicines/human/EPAR/zavesca#ema-inpage-item-assessment-history)

Zimran A and Elstein D 2014 Management of Gaucher disease: enzyme replacement therapy. Pediatr. Endocrinol. Rev. 12 82–87

PubMed  Google Scholar