Evidence map›Paper›PMID 39639297›Full record

ArticleOrphanet journal of rare diseases2024

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach

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In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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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

2 citing papers in PubMed.

  1. Article
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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

10 authors.

Bénédicte HéronDepartment of Pediatric Neurology, Reference Centre for Lysosomal Diseases, Armand Trousseau Hospital and Hospitalo-Universitaire Federation I2-D2, AP-HP. Sorbonne-Université, Paris, France. benedicte.heron@aphp.fr.ORCID 0000-0002-7707-4521
Spyros BatziosGreat Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Eugen MengelSphinCS GmbH, Hochheim, Germany.
Roberto GiuglianiDepartment of Genetics UFRGS, Medical Genetics Service HCPA, DR Brasil HCPA, INAGEMP, DASA, and Casa Dos Raros, Porto Alegre, Brazil.
Marc PattersonDivision of Child and Adolescent Neurology, Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic Children's Center, Rochester, MN, USA.
Matthias GautschiDepartment of Paediatrics and Institute of Clinical Chemistry, Swiss Reference Centre for Inborn Errors of Metabolism, Site Berne, University Hospital Bern, Inselspital, Bern, Switzerland.
Peter CornelisseIdorsia Pharmaceuticals Ltd, Allschwil, Switzerland.
Luba TrokanIdorsia Pharmaceuticals Ltd, Allschwil, Switzerland.
Barbara SchwierinIdorsia Pharmaceuticals Ltd, Allschwil, Switzerland.
Marianne RohrbachDivision of Metabolism and Children's Research Center, Reference Center for Inborn Errors of Metabolism, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy. The conditions are rare, and there is therefore a need for accurate and up to date information concerning the disease course and survival to assist in the design of clinical trials. RETRIEVE is a natural history study aiming to: (1) collect data on the survival of patients with early-onset (onset of first neurological manifestation before 24 months of age) GM1, GM2, or GD2; (2) collect data that could constitute a historical control group for future clinical trials; and (3) evaluate whether the conditions can be assessed together in a single interventional clinical trial. Group A included patients who were deceased or with unknown survival status at enrollment and was thus limited to retrospective data. Group B included patients who were alive at enrollment, who were followed prospectively with additional retrospective data collection.

resultsGroup A included 185 patients (60 with GM1, 78 with GM2, and 47 with GD2), and Group B included 40 patients (18 with GM1, 16 with GM2, and 6 with GD2). Mean and median age at diagnosis and age at onset of first neurological manifestation were youngest in patients with GD2 and oldest in patients with GM2 in both groups. In Group A, median (95% CI) survival was 19.0 (18.0, 22.0), 44.0 (37.0, 51.9) and 14.0 (10.0, 16.0) months in patients with GM1, GM2 and GD2, respectively. In Group B, hypotonia was experienced by most patients with GM1 (17/18, 94.4%), and was less common in patients with GM2 (12/16, 75.0%) and GD2 (4/6, 66.7%). Strabismus and splenomegaly were reported in all six patients with GD2.

conclusionsRETRIEVE is one of the largest natural history studies of GM1, GM2, and GD2. Results were generally consistent with the published literature, with differences potentially due to variation in inclusion criteria. The difference in median survival between patients with early-onset GM1, GM2, and GD2 reported in this study suggests that the three diseases should not be pooled for study in clinical trials.

Indexed as

Gangliosidoses, GM2Gangliosidosis, GM1Gaucher DiseaseAdolescentChildChild, PreschoolFemaleHumansInfantMaleRetrospective StudiesGaucher disease type 2GM1 gangliosidosisGM2 gangliosidosesInfantsLysosomal storage disorderNatural history

Identifiers

PMID39639297
PMCPMC11619657

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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 OpenQuestion graph.