Evidence map›Paper›PMID 42414749›Full record

ArticleIndian journal of pediatrics2026

Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study.

Neerja Gupta, Devi Saranya S, Shashank Koundinya, Meenakshi Bhatt, Mamta Muranjan, Amita Moirangthem, Sujatha Jagdeesh, Aabha Nagral, Inusha Panigrahi, Amit Kumar Gupta and 17 more

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Indian journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors.

Neerja GuptaDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Devi Saranya S *Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Shashank Koundinya *Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Meenakshi BhattDepartment of Pediatric Genetics, Indira Gandhi Institute of Child Heath, Bengaluru, India.
Mamta MuranjanDepartment of Pediatrics, KEM Hospital, Mumbai, India.
Amita MoirangthemDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, India.
Sujatha JagdeeshDepartment of Clinical Genetics and Genetic Counselling, MEDISCAN, Chennai, India.
Aabha NagralDepartment of Gastroenterology, Jaslok Hospital, Mumbai, India.
Inusha PanigrahiGenetic Metabolic Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Amit Kumar GuptaDepartment of Medical Genetics, Maulana Azad Medical College, New Delhi, India.
Ratna Dua PuriInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Suchandra MukherjeeDepartment of Neonatology, IPGMER & SSKM Hospital, Kolkata, India.
Bhavna DhingraDepartment of Pediatrics, All India Institute of Medical Sciences, Bhopal, India.
Prajnya RanganathDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
Sanjeeva GnDepartment of Pediatric Genetics, Indira Gandhi Institute of Child Heath, Bengaluru, India.
Sonu AntonyDepartment of Pediatrics, KEM Hospital, Mumbai, India.
Shubha PhadkeDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, India.
Kausik MandalDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, India.
Seema KapoorDepartment of Medical Genetics, Maulana Azad Medical College, New Delhi, India.
Sheela NampoothiriDepartment of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, India.
Sunita Bijarnia-MahayInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Pallavi MishraDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Pooja MotwaniDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, India.
Jyotsna VermaInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Parminder KaurGenetic Metabolic Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
R M PandeyIndian Council of Medical Research, New Delhi, India.
Madhulika KabraDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. madhulikakabra@hotmail.com.ORCID http://orcid.org/0000-0003-3315-9782

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo evaluate the short- and long-term clinical and laboratory outcomes of Enzyme Replacement Therapy (ERT) in Indian patients with Gaucher disease (GD) and to identify factors influencing the therapeutic response.

methodsThis retrospective, multicentre cohort study included 204 patients with confirmed GD across 13 Indian centres. Eligible participants had received at least one year of ERT and provided both baseline and follow-up data. Patients were stratified by splenectomy status. Longitudinal outcomes assessed over 1-5, 10, and 15 y included hemoglobin levels, platelet counts, liver and spleen volumes, chitotriosidase activity, bone pain, bone mineral density (BMD), and height/weight Z-scores. Subgroup analyses evaluated the impact of age at ERT initiation, GD subtype, genotype, and baseline disease severity.

resultsOf the 204 patients, 173 were non-splenectomised and 31 were post-splenectomy; notably, 136 (66.7%) presented with the GD3 phenotype. The median age at symptom onset, diagnosis, and ERT initiation was 1.5 y, 2.6 y, and 4.3 y respectively. The p.L483P allele was the predominant variant in the cohort. Within the first 1-5 y of ERT, non-splenectomised patients demonstrated marked improvements in hematological parameters, organomegaly, biomarker activity, growth metrics, and bone pain. These improvements were sustained through 10-15 y, characterized by stabilized visceral parameters, persistently low biomarker levels, steady growth, and a low incidence of new skeletal complications. Early initiation of ERT was associated with a greater magnitude of hematological response as early as 1 y.

conclusionsERT facilitates rapid clinical and laboratory improvements within 1-5 y, with benefits sustained over 10-15 y in Indian GD patients. Despite significant diagnostic delays and the advanced stage of disease at presentation common in this population, long-term outcomes remain highly favourable. Early initiation of ERT is critical for optimizing treatment response and preventing irreversible sequelae.

Indexed as

Enzyme Replacement TherapyGaucher DiseaseGlucosylceramidaseAdolescentChildChild, PreschoolFemaleHumansIndiaInfantMaleRetrospective StudiesSplenectomyTreatment OutcomeGlucosylceramidaseEnzyme replacement therapyGaucher diseaseGrowth outcomesHematological responseIndiaVisceral outcomes

Identifiers

PMID42414749

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.