Evidence map›Paper›PMID 42096006›Full record

ReviewCurrent osteoporosis reports2026

Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.

Simone Donati, Cinzia Aurilia, Gaia Palmini, Irene Falsetti, Francesca Marini, Francesca Giusti, Roberto Zonefrati, Francesco Ranaldi, Teresa Iantomasi, Maria Luisa Brandi

Abstract readReview
PubMed Publisher
In one paragraph

Review in Current osteoporosis reports, 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. Review
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.

Simone Donati *Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, 50139, Italy.
Cinzia Aurilia *Associazione Italiana Neoplasie Endocrine, Multiple di tipo 1 e di tipo 2 (AIMEN 1 e 2), Sondrio, 23100, Italy.
Gaia PalminiFirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), Florence, 50141, Italy.
Irene FalsettiDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, 50139, Italy.
Francesca MariniFirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), Florence, 50141, Italy.
Francesca GiustiDonatello Bone Clinic, Villa Donatello Hospital, Florence, 50019, Italy.
Roberto ZonefratiFirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), Florence, 50141, Italy.
Francesco RanaldiDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, 50139, Italy.
Teresa IantomasiDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, 50139, Italy.
Maria Luisa BrandiFirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), Florence, 50141, Italy. marialuisa@marialuisabrandi.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purpose of the reviewOsteopetrosis is a heterogeneous group of bone diseases with increased bone density as a result of defective osteoclast function or differentiation. The clinical presentations range from the early, often lethal, infantile malignant forms to the mild autosomal dominant forms. This review provides recent updates in preclinical findings regarding molecular genetics, diagnosis, and novel therapeutic approaches in osteopetrosis. RECENT

findingsThe diagnosis is radiologic, supported by biochemical and genetic examination to identify mutations in the key genes involved in osteoclasts, TCIRG1, CLCN7, OSTM1, SNX10, RANK, and RANKL. Treatment is at present largely the management of complications and includes vitamin D and calcium supplements, IFN-γ therapy, and hematopoietic stem cell transplantation (HSCT), the latter being the treatment of choice for most forms of osteopetrosis. Two gene therapy- and iPSCs-derived strategies, based on reconstituting the function of osteoclasts, have been recently developed for the management of this hereditary bone disease. Furthermore, emerging findings suggest the possible involvement of epigenetic mechanisms, such as non-coding RNAs (ncRNAs), in osteopetrosis pathophysiology, paving the way for potential novel diagnostic biomarkers and tailored molecular treatments. The aim of this review is to provide an overview of recent progress in molecular genetics, diagnosis, and novel therapeutic strategies in osteopetrosis and to illustrate conceivable scenarios in regenerative and gene-based therapy.

Indexed as

OsteopetrosisCalciumChloride ChannelsEpigenesis, GeneticGenetic TherapyHematopoietic Stem Cell TransplantationHumansMembrane ProteinsMutationOsteoclastsRANK LigandReceptor Activator of Nuclear Factor-kappa BRNA, UntranslatedSorting NexinsUbiquitin-Protein LigasesVacuolar Proton-Translocating ATPasesCalciumChloride ChannelsCLCN7 protein, humanMembrane ProteinsOSTM1 protein, humanRANK LigandReceptor Activator of Nuclear Factor-kappa BRNA, UntranslatedSNX10 protein, humanSorting NexinsTCIRG1 protein, humanTNFSF11 protein, humanUbiquitin-Protein LigasesVacuolar Proton-Translocating ATPasesVitamin DGene therapyiPSCsNon-coding RNAsOsteopetrosisRANKL

Identifiers

PMID42096006

What OpenQuestion holds

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Read underepoch 390

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 OpenQuestion graph.