
Academic Journal
Q3Therapeutic Advances in Rare Disease
About Therapeutic Advances in Rare Disease
Therapeutic Advances in Rare Disease is a scholarly journal published by SAGE Publications Ltd. SCImago 2025 lists it in Q3, with an SJR of 0.503 and H-index of 11.
Coverage: 2020-2026. Research categories: Internal Medicine (Q3).
Open-access policies and author information
Reported in the official DOAJ public CSV snapshot (2026-09-01), downloaded 2026-10-03. Record updated 2024-04-04. This snapshot does not establish today’s listing status or fee quotation.
Publisher policy links recorded by DOAJ
- Aims and scope ↗
- Editorial board ↗
- Instructions for authors ↗
- Peer-review policy ↗
- Publication fees ↗
- Fee waivers ↗
- Licence terms ↗
- Copyright policy ↗
- Preservation policy ↗
Source: DOAJ journal record. Journal metadata is distributed by DOAJ under CC0. Confirm current fees, tax, eligibility and waiver terms with the publisher.
Source-backed journal facts
Topics in published research
Genomics and Rare Diseases; Lysosomal Storage Disorders Research; Mitochondrial Function and Pathology; Genetics and Neurodevelopmental Disorders; Health Systems, Economic Evaluations, Quality of Life; Glycogen Storage Diseases and Myoclonus.
OpenAlex classifies topics from published works. These topics are not the publisher’s official aims and scope.
Source: OpenAlex source record. Retrieved 2026-10-03. Source record updated 2026-10-01. OpenAlex metrics are different from SCImago metrics and the Clarivate Journal Impact Factor.
Journal Metrics
Quartile, SJR and the listed SCImago H-index use the 2025 imported SCImago dataset. A quartile may vary by subject category. Values without a source or reporting year are unverified historical entries. Verify the current Journal Impact Factor with Clarivate or the publisher before using it.
Aims & Scope
The publisher’s official aims and scope have not yet been verified for this profile. Use the journal website to check subject fit and accepted article types before submitting.
Recent Research Articles
Latest publications matched automatically by ISSN.
Evaluation of muscle microvascular perfusion in primary mitochondrial disease by contrast-enhanced ultrasound: Feasibility study
Laith R. Sultan, Trudy A. Morgan, Daniel E. McGinn, Kassa Darge et al.
2026-09 · DOI: 10.1177/26330040261486870Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency
Austin Larson, Jared Goettemoeller, Ken Goettemoeller, Linda Goettemoeller et al.
2026-09 · DOI: 10.1177/26330040261478640Eneboparatide induces prolonged 24-hour PTH 1 receptor activation
Xavier Gaume, Guillaume Ravel, Corentin Berardet, Myriam Aouadi et al.
2026-09 · DOI: 10.1177/26330040261481959Addressing unmet needs in rare diseases: A patient-centred vision through INFORM-RD
Kenji Demesure, Lien Beckers, Wendy Vansteenkiste, Ruxanda Berlinschi et al.
2026-09 · DOI: 10.1177/26330040261486869Endothelial–mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction
Jose A. Adams, Tiffany Ko, Laith R. Sultan, Tejas Sarna et al.
2026-09 · DOI: 10.1177/263300402614801322000–2025: Emerging therapies in primary mitochondrial disease: A structured review, horizon scan, and roadmap for the future
Amel Karaa, Maria Isabel G. Lopez Sanchez, Clare Stuart, Luca Bolliger et al.
2026-08 · DOI: 10.1177/26330040261473291Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders
Laura E. MacMullen, Katelynn D. Stanley, John Christodoulou, Bruce H. Cohen et al.
2026-08 · DOI: 10.1177/26330040261476231First bone marrow transplantation for mucopolysaccharidosis type I in Vietnam: a case report
Le Nguyen-Ngoc-Quynh, Ngoc Can-Thi-Bich, Duong Dang-Anh, Ha Dang-Thi et al.
2026-08 · DOI: 10.1177/26330040261469199Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus
Anna Kulpanovich
2026-07 · DOI: 10.1177/26330040261470451Cancer prevalence in primary mitochondrial disease patients and their families
Shrey Dalwadi, Nicole M. Engelhardt, Colleen C. Muraresku, Kelsey Keith et al.
2026-07 · DOI: 10.1177/26330040261471914Patients’ lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study
Amel Karaa, Asha Hareendran, Katie Waller, Philip Yeske et al.
2026-07 · DOI: 10.1177/26330040261469197TANGO2 Research Foundation Poster Abstracts 2026 - TANGO2 Family Conference - Disney’s Coronado Springs Resort - June 28 - 30, 2026
2026-06 · DOI: 10.1177/26330040261451039A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1 : secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment
Anastasia Ambrose, Morganne McCabe, Shalini Bahl, David Sinasac et al.
2026-03 · DOI: 10.1177/26330040261427020Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force
Melissa A. Parisi, Adam L. Hartman, Mary Catherine V. Letinturier, Elena-Alexandra Tataru et al.
2026-03 · DOI: 10.1177/26330040261427023Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies
Evelyn M. Elizondo, Anne M. Floyd, Allison M. H. Foy, Dante J. Rogers et al.
2026-03 · DOI: 10.1177/26330040261427019Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy
Arif Mitha, Victoria Hodgkinson, Susi Vander Wyk, Chris Cameron et al.
2026-03 · DOI: 10.1177/26330040261433035Reliability assessment using the test–retest method and minimal important changes in the Adult Fabry Disease Quality of Life Scale
Yuta Koto, Masami Tanaka, Mitsuyo Ishiura, HyeSook Kim et al.
2026-03 · DOI: 10.1177/26330040261433034Current therapeutic landscape of β-thalassemia: focus on gene therapy
Aaron N. Cheng, Janet L. Kwiatkowski
2026-03 · DOI: 10.1177/26330040261433028The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitis
Gerry Nesbitt, Alexandra Curley
2026-03 · DOI: 10.1177/26330040261427491Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease
Robert J. Hopkin, Barry J. Byrne, Mazen M. Dimachkie, Priya S. Kishnani et al.
2026-03 · DOI: 10.1177/26330040261425686Reviews
Community Reviews
Version History
October 4, 2026 at 9:18 pm
October 2, 2026