Over the last decade-plus, Orphanet Journal of Rare Diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. This is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. Please take a look at some of our most recent work in this essential vein.
Orphanet Journal of Rare Diseases
OJRD Reviews
Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing’s syndrome
Naomi Knoble, Gabrielle Nayroles, Cherry Cheng and Benoit Arnould
Orphanet Journal of Rare Diseases 2018 13:228
Published on: 19 December 2018
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases
Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu and Xue Zhang
Orphanet Journal of Rare Diseases 2018 13:224
Published on: 17 December 2018
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew and Nicola Longo
Orphanet Journal of Rare Diseases 2018 13:219
Published on: 6 December 2018
Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature
Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou, Shuhua Xu and Min Zhu
Orphanet Journal of Rare Diseases 2018 13:217
Published on: 4 December 2018
Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros and Vanessa dos Reis Ferreira
Orphanet Journal of Rare Diseases 2018 13:215
Published on: 28 November 2018
Recent advances in methodology for clinical trials in small populations: the InSPiRe project
Tim Friede, Martin Posch, Sarah Zohar, Corinne Alberti, Norbert Benda, Emmanuelle Comets, Simon Day, Alex Dmitrienko, Alexandra Graf, Burak Kürsad Günhan, Siew Wan Hee, Frederike Lentz, Jason Madan, Frank Miller, Thomas Ondra, Michael Pearce, Christian Röver, Artemis Toumazi, Steffen Unkel, Moreno Ursino, Gernot Wassmer and Nigel Stallard
Orphanet Journal of Rare Diseases 2018 13:186
Published on: 25 October 2018
A systematic review of cognitive functioning in early treated adults with phenylketonuria
Denise Leonne Hofman, Claire Louise Champ, Clare Louise Lawton, Mick Henderson and Louise Dye
Orphanet Journal of Rare Diseases 2018 13:150
Published on: 30 August 2018
Can untreated PKU patients escape from intellectual disability? A systematic review
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley and Francjan J. van Spronsen
Orphanet Journal of Rare Diseases 2018 13:149
Published on: 29 August 2018
Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets
Annie Ting Gee Chiu, Claudia Ching Yan Chung, Wilfred Hing Sang Wong, So Lun Lee and Brian Hon Yin Chung
Orphanet Journal of Rare Diseases 2018 13:147
Published on: 28 August 2018
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz and Luis A. Barrera
Orphanet Journal of Rare Diseases 2018 13:141
Published on: 16 August 2018
Miglustat in Niemann-Pick disease type C patients: a review
Mercè Pineda, Mark Walterfang and Marc C. Patterson
Orphanet Journal of Rare Diseases 2018 13:140
Published on: 15 August 2018
Craniofacial and oral alterations in patients with Neurofibromatosis 1
Vivian Visnapuu, Sirkku Peltonen, Lotta Alivuotila, Risto-Pekka Happonen and Juha Peltonen
Orphanet Journal of Rare Diseases 2018 13:131
Published on: 9 August 2018
Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) - a target for clinical trials
Jatinder Singh and Paramala Santosh
Orphanet Journal of Rare Diseases 2018 13:128
Published on: 31 July 2018
Acid ceramidase deficiency: Farber disease and SMA-PME
Fabian P. S. Yu, Samuel Amintas, Thierry Levade and Jeffrey A. Medin
Orphanet Journal of Rare Diseases 2018 13:121
Published on: 20 July 2018
Childhood hypophosphatasia: to treat or not to treat
Eric T. Rush
Orphanet Journal of Rare Diseases 2018 13:116
Published on: 16 July 2018
Alpha-1 antitrypsin deficiency: outstanding questions and future directions
María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas and Francisco Dasí
Orphanet Journal of Rare Diseases 2018 13:114
Published on: 11 July 2018
Transcriptome level analysis in Rett syndrome using human samples from different tissues
Stephen Shovlin and Daniela Tropea
Orphanet Journal of Rare Diseases 2018 13:113
Published on: 11 July 2018
Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases
Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu and Beth K. Potter
Orphanet Journal of Rare Diseases 2018 13:104
Published on: 28 June 2018
Thymectomy in nonthymomatous myasthenia gravis - systematic review and meta-analysis
Antônio J. M. Cataneo, Gilmar Felisberto Jr. and Daniele C. Cataneo
Orphanet Journal of Rare Diseases 2018 13:99
Published on: 25 June 2018
What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
Tessa van Dijk, Frank Baas, Peter G. Barth and Bwee Tien Poll-The
Orphanet Journal of Rare Diseases 2018 13:92
Published on: 15 June 2018
A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases
Brendon W. H. Lee, Jeremy C. K. Tan, Melissa Radjenovic, Minas T. Coroneo and Dedee F. Murrell
Orphanet Journal of Rare Diseases 2018 13:83
Published on: 22 May 2018
Lessons learned from IDeAl — 33 recommendations from the IDeAl-net about design and analysis of small population clinical trials
Ralf-Dieter Hilgers, Malgorzata Bogdan, Carl-Fredrik Burman, Holger Dette, Mats Karlsson, Franz König, Christoph Male, France Mentré, Geert Molenberghs and Stephen Senn
Orphanet Journal of Rare Diseases 2018 13:77
Published on: 11 May 2018
Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis
Nadine Zwink and Ekkehart Jenetzky
Orphanet Journal of Rare Diseases 2018 13:75
Published on: 10 May 2018
Naxos disease: from the origin to today
Guo-Liang Li, Ardan M. Saguner and Guy H. Fontaine
Orphanet Journal of Rare Diseases 2018 13:74
Published on: 10 May 2018
GNE myopathy: from clinics and genetics to pathology and research strategies
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller and Andreas Roos
Orphanet Journal of Rare Diseases 2018 13:70
Published on: 2 May 2018
Adenosine deaminase deficiency: a review
Aisling M. Flinn and Andrew R. Gennery
Orphanet Journal of Rare Diseases 2018 13:65
Published on: 24 April 2018
Patient reported outcome measures in rare diseases: a narrative review
Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin and Melanie Calvert
Orphanet Journal of Rare Diseases 2018 13:61
Published on: 23 April 2018
Epidemiology of Sanfilippo syndrome: results of a systematic literature review
Tamás Zelei, Kata Csetneki, Zoltán Vokó and Csaba Siffel
Orphanet Journal of Rare Diseases 2018 13:53
Published on: 10 April 2018
Consensus clinical management guidelines for Niemann-Pick disease type C
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson and on behalf of the International Niemann-Pick Disease Registry (INPDR)
Orphanet Journal of Rare Diseases 2018 13:50
Published on: 6 April 2018
Pigmentary mosaicism: a review of original literature and recommendations for future handling
Anna Boye Kromann, Lilian Bomme Ousager, Inas Kamal Mohammad Ali, Nurcan Aydemir and Anette Bygum
Orphanet Journal of Rare Diseases 2018 13:39
Published on: 5 March 2018
Programmed Sports Therapy (PST) in People with Haemophilia (PwH) “Sports Therapy Model for Rare Diseases”
Thomas Hilberg
Orphanet Journal of Rare Diseases 2018 13:38
Published on: 5 March 2018
Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease
Ari Zimran, Michael Wajnrajch, Betina Hernandez and Gregory M. Pastores
Orphanet Journal of Rare Diseases 2018 13:36
Published on: 23 February 2018
Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review
Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo and Corrado Angelini
Orphanet Journal of Rare Diseases 2018 13:35
Published on: 21 February 2018
Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR
Trevor Richter, Ghayath Janoudi, William Amegatse and Sandra Nester-Parr
Orphanet Journal of Rare Diseases 2018 13:15
Published on: 1 February 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins and Joseph J. Orsini
Orphanet Journal of Rare Diseases 2018 13:30
Published on: 1 February 2018
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes
Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro and Yann Nadjar
Orphanet Journal of Rare Diseases 2018 13:29
Published on: 1 February 2018
An overview of the impact of rare disease characteristics on research methodology
Danielle Whicher, Sarah Philbin and Naomi Aronson
Orphanet Journal of Rare Diseases 2018 13:14
Published on: 19 January 2018
Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii and Yukio Ando
Orphanet Journal of Rare Diseases 2018 13:6
Published on: 17 January 2018
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review
Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang and Xiaoping Chen
Orphanet Journal of Rare Diseases 2019 14:171
Published on: 8 July 2019
Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?
Nadirah Damseh, Jennifer Stimec, Alan O’Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer and Peter Kannu
Orphanet Journal of Rare Diseases 2019 14:156
Published on: 27 June 2019
Genome sequencing and implications for rare disorders
Jennifer E. Posey
Orphanet Journal of Rare Diseases 2019 14:153
Published on: 24 June 2019
Treatment of Satoyoshi syndrome: a systematic review
Julián Solís-García del Pozo, Carlos de Cabo and Javier Solera
Orphanet Journal of Rare Diseases 2019 14:146
Published on: 19 June 2019
Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines
K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. García García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek and K. M. Mayre-Chilton
Orphanet Journal of Rare Diseases 2019 14:133
Published on: 11 June 2019
Rendu-Osler-Weber disease: a gastroenterologist’s perspective
Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran and Antonio Gasbarrini
Orphanet Journal of Rare Diseases 2019 14:130
Published on: 7 June 2019
Occupational therapy for epidermolysis bullosa: clinical practice guidelines
Jennifer M. Chan, Amy Weisman, Alex King, Susan Maksomski, Carrissa Shotwell, Claire Bailie, Helen Weaver, Rebecca Bodan, Estrella Guerrero, Matija Zmazek and Phuong Khuu
Orphanet Journal of Rare Diseases 2019 14:129
Published on: 7 June 2019
Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research
Ameenat L. Solebo, Robert J. Barry, Pearse A. Keane, Jugnoo S. Rahi and Alastair K. Denniston
Orphanet Journal of Rare Diseases 2019 14:125
Published on: 6 June 2019
Current challenges in the management of patients with sickle cell disease – A report of the Italian experience
Giovanna Russo, Lucia De Franceschi, Raffaella Colombatti, Paolo Rigano, Silverio Perrotta, Vincenzo Voi, Giovanni Palazzi, Carmelo Fidone, Alessandra Quota, Giovanna Graziadei, Antonello Pietrangelo, Valeria Pinto, Giovan Battista Ruffo, Francesco Sorrentino, Donatella Venturelli, Maddalena Casale, Francesca Ferrara, Laura Sainati, Maria Domenica Cappellini, Antonio Piga, Aurelio Maggio and Gian Luca Forni
Orphanet Journal of Rare Diseases 2019 14:120
Published on: 30 May 2019
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency
Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei
Orphanet Journal of Rare Diseases 2019 14:84
Published on: 25 April 2019
FGF23 and its role in X-linked hypophosphatemia-related morbidity
Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala and Outi Mäkitie
Orphanet Journal of Rare Diseases 2019 14:58
Published on: 26 February 2019
Congenital myasthenic syndromes
Josef Finsterer
Orphanet Journal of Rare Diseases 2019 14:57
Published on: 26 February 2019
Guidelines on the diagnosis and management of the progressive ataxias
Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt and Paola Giunti
Orphanet Journal of Rare Diseases 2019 14:51
Published on: 20 February 2019
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia
Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei
Orphanet Journal of Rare Diseases 2019 14:40
Published on: 13 February 2019
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis
Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu and Yimin Cui
Orphanet Journal of Rare Diseases 2019 14:39
Published on: 13 February 2019
Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal
Rana Yadak, Marjolein Breur and Marianna Bugiani
Orphanet Journal of Rare Diseases 2019 14:33
Published on: 8 February 2019
Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series
Márcia Waddington-Cruz, Hartmut Schmidt, Marc F. Botteman, John A. Carter, Michelle Stewart, Markay Hopps, Shari Fallet and Leslie Amass
Orphanet Journal of Rare Diseases 2019 14:34
Published on: 8 February 2019
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik and Chris J Hendriksz
Orphanet Journal of Rare Diseases 2019 14:20
Published on: 21 January 2019
Freeman-Burian syndrome
Mikaela I. Poling, Craig R. Dufresne and Robert L. Chamberlain
Orphanet Journal of Rare Diseases 2019 14:14
Published on: 10 January 2019
Achondroplasia: a comprehensive clinical review
Richard M. Pauli
Orphanet Journal of Rare Diseases 2019 14:1
Published on: 3 January 2019