OJ

Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases publishes reviews and original articles on rare diseases and orphan drugs, including translational, clinical, and epidemiological research, clinical trials of exceptional interest, and work on public health, quality of life, drug and research policies, and health economics in rare diseases. It is the official journal of Orphanet and uses section editorial boards with subject specialists across many rare disease types.

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Subject Genetics & Heredity, Medicine, Research & Experimental
Impact Factor 3.5
Quartile Q2
Open Access Type Open
eISSN 1750-1172
Invitation Only Yes
Cost Range £2290.00 GBP / $3090.00 USD / €2590.00 EUR APC; subject to VAT or local taxes where applicable.

Submission Instructions

Orphanet Journal of Rare Diseases is an invitation-only journal. Submissions are accepted by invitation from the editorial board only. The following article types are accepted:

Research

Cover Letter A cover letter is required. The cover letter must explain why the manuscript should be published in Orphanet Journal of Rare Diseases, address any journal policy issues, declare any potential competing interests, confirm all authors approved the submission, and confirm the manuscript has not been published or submitted elsewhere.
Abstract An abstract is required. Abstract must not exceed 350 words. Abstract must be structured. Abstract must include the headings Background, Results, and Conclusions, and for clinical trials the last line must give the trial registration number and date of registration, or also state 'retrospectively registered' if applicable.
Manuscript Manuscript must include the sections Background, Methods, Results, Discussion, Conclusions, and a 'Declarations' section with the required subheadings. Manuscript must include three to ten keywords and a 'Declarations' section containing Ethics approval and consent to participate, Consent for publication, Availability of data and materials, Competing interests, Funding, Authors' contributions, Acknowledgements, and optional Authors' information, with 'Not applicable' used for any irrelevant declaration subsection.
References References must follow Vancouver reference style. Only published or in-press articles, clinical trial registration records, abstracts, and public preprints may be cited, unpublished abstracts/data and personal communications must be excluded from the reference list, journal abbreviations must follow Index Medicus/MEDLINE, and web references must include the site title, full URL, and access date.
Figures & Tables Tables shorter than one page may be placed within the manuscript, tables longer than one page may be placed at the end of the text file, figure titles and legends must appear in the main manuscript rather than the graphic file, and figures must be uploaded separately in the order cited. Figures and tables must be numbered in sequence, multi-panel figures must be submitted as one composite file, tables must not be embedded as figures or spreadsheet files, and source data must be included for figures describing tumour growth.
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Review

Cover Letter A cover letter is required. Cover letter must explain why the manuscript should be published, address any journal policy issues, declare any potential competing interests, confirm all authors approved the submission, confirm the content has not been published or submitted elsewhere, and name the special issue if applicable.
Abstract An abstract is required. Review abstract must not exceed 350 words. Review abstract must be structured. Review abstract must include background, main body of the abstract, and a short conclusion, and systematic reviews with registration should place the registration number as the last line of the abstract.
Manuscript Reviews must include a Declarations section with the subheadings Ethics approval and consent to participate, Consent for publication, Availability of data and materials, Competing interests, Funding, Authors' contributions, and Acknowledgements. Reviews must include three to ten keywords, an Availability of data and materials statement, a list of abbreviations if abbreviations are used, and Declarations headings marked 'Not applicable' when a section is not relevant, and any use of a large language model must be documented in the manuscript.
References References must follow Vancouver style. Only published, in-press, or publicly available preprint articles, trial registration records, and abstracts may be cited, unpublished abstracts, unpublished data, and personal communications must not appear in the reference list, web links must be included as full references, and journal abbreviations must follow Index Medicus/MEDLINE.
Figures & Tables Figure titles and legends must be provided in the main manuscript rather than in the graphic file, tables shorter than one page may be placed within the manuscript, tables longer than one page may be placed at the end of the document, and figures must be uploaded separately in the order cited. Tables must not be embedded as figures or spreadsheet files, reviews must use footnotes instead of endnotes, footnotes must not contain figures or tables, and footnotes to tables must use superscript lower-case letters or asterisks for significance values and other statistical data.
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Letter To The Editor

Cover Letter A cover letter is required. Cover letter must explain why the manuscript should be published, address any issues relating to journal policies, declare any potential competing interests, confirm all authors approved the submission, and confirm the manuscript has not been published or submitted elsewhere.
Abstract An abstract is required. Abstract must not exceed 250 words. Abstract should be unstructured and briefly summarize the aim, findings, or purpose of the article.
Manuscript Letter to the Editor manuscript must include a Declarations section with the required subheadings and include three to ten keywords. Manuscript must include an Availability of data and materials statement, a Competing interests section, an Authors' contributions section, an Acknowledgements section, and an optional Authors' information section, with any non-relevant Declarations heading retained and marked 'Not applicable'.
References References must follow Vancouver style. Web links and URLs in the reference list must be given in full with the site title, URL, and access date, and footnotes must not include bibliographic reference details.
Figures & Tables Tables shorter than one page may be placed within the manuscript, while longer tables may be placed at the end of the text file, and figure titles and legends must be provided in the main manuscript rather than in the graphic file. Figures must be numbered in the order first mentioned and uploaded in that order, and tables must be numbered and cited in sequence using Arabic numerals.
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Position Statement

Cover Letter A cover letter is required. Cover letter must explain why the manuscript should be published, address any issues relating to journal policies, declare any potential competing interests, confirm all authors approved submission, confirm the manuscript has not been published or submitted elsewhere, and name any special issue if applicable.
Abstract An abstract is required. Abstract must not exceed 350 words. Abstract must be structured. Abstract must include Background, Main body of the abstract, and Short conclusion.
Manuscript Manuscript must include a title page, abstract, keywords, Background, Main text, Conclusions, and a Declarations section with the required subheadings. Manuscript must include three to ten keywords and a Declarations section containing Ethics approval and consent to participate, Consent for publication, Availability of data and materials, Competing interests, Funding, Authors' contributions, Acknowledgements, and optional Authors' information, with 'Not applicable' used for any irrelevant declaration.
References References must follow Vancouver reference style. Web links and URLs must appear in the reference list in full with the site title, URL, and access date, and unpublished abstracts, unpublished data, and personal communications must not be included in the reference list.
Figures & Tables Tables shorter than one page may be placed within the manuscript, larger tables may be placed at the end of the text file, and figure titles and legends must be provided in the main manuscript rather than in the graphic file. Figures must be numbered in text order and uploaded in that order, multi-panel figures must be submitted as a single composite file, tables must be numbered and cited in sequence, and tables must not be embedded as figures.
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Recent Publications

Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice

Aude Servais, Marie Therese Abi-Wardé, Jean-Baptiste Arnoux, Alberto Burlina, Francois Feillet, Vincenzo Giordano, Nicola Longo, Sufin Yap

10.1186/s13023-026-04418-y
View Publication

Correction: Recessive congenital methemoglobinemia: a systematic review of reported cases

Julie Neven, Tessi Beyltjens, Marije Meuwissen, Barbara De Bisschop, Jason Bouziotis, Machiel van den Akker

10.1186/s13023-026-04372-9
View Publication

Living with Xeroderma Pigmentosum: a qualitative study of the psychosocial challenges experienced by families of children with a rare skin disorder

Jordana McLoone, Kyra Webb, Kathy Tucker, Antoinette Anazodo, Denise Wilson, Michael Rtshiladze, Linda K. Martin

10.1186/s13023-026-04410-6
View Publication

Solitary infantile myofibromatosis of the extremities: a multicenter case series with descriptive analysis of recurrence and β-catenin expression

Hüseyin Emre Tepedelenli̇oğlu, Mustafa Onur Karaca, Şefik Murat Arikan, Tolga Tolunay, Güray Toğral, Tezer Kutluk

10.1186/s13023-026-04392-5
View Publication

The impact of cardiovascular risk factors in non-classical Fabry disease

Bram C. F. Veldman, Laura van Dussen, Mareen R. Datema, Rutger Meinsma, Judith Jansen-Meijer, Janet Koster, André B. P. van Kuilenburg, Maud Janssens, Lourens F. H. J. Robbers, Mirjam Langeveld

10.1186/s13023-026-04425-z
View Publication

Frequently asked questions

How long does it take to publish?

Submission to first decision (median): 41 days.

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Is a cover letter required?

A cover letter is required and should explain why the manuscript should be published in Orphanet Journal of Rare Diseases, address any issues relating to journal policies, declare potential competing interests, confirm all authors approved the submission, confirm the manuscript has not been published or submitted elsewhere, and name the special issue if applicable. Authors may also suggest preferred and non-preferred peer reviewers in the cover letter.

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What are the publication costs?

The article processing charge is £2290.00 GBP / $3090.00 USD / €2590.00 EUR per accepted article, subject to VAT or local taxes where applicable.

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Research Topics

Genomics and Rare Diseases Lysosomal Storage Disorders Research Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus Health Systems, Economic Evaluations, Quality of Life Connective tissue disorders research Neurogenetic and Muscular Disorders Research Mitochondrial Function and Pathology Genetic Neurodegenerative Diseases Amyloidosis: Diagnosis, Treatment, Outcomes Tuberous Sclerosis Complex Research Hereditary Neurological Disorders Folate and B Vitamins Research Skin and Cellular Biology Research Cystic Fibrosis Research Advances Dermatological and Skeletal Disorders Genetic Syndromes and Imprinting Muscle Physiology and Disorders Cardiomyopathy and Myosin Studies Autoimmune and Inflammatory Disorders Research Biomedical Research and Pathophysiology Amyotrophic Lateral Sclerosis Research Coagulation, Bradykinin, Polyphosphates, and Angioedema BRCA gene mutations in cancer Hemophilia Treatment and Research

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