Articles

Pancreatic involvement in patients with inborn errors of metabolism

Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders i...

Authors: Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy and Sook-Za Kim

Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment

To examine patient/caregiver preference for key attributes of treatments for spinal muscular atrophy (SMA).

Authors: Alisha Monnette, Er Chen, Dongzhe Hong, Alessandra Bazzano, Stacy Dixon, W. David Arnold and Lizheng Shi

The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study

Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU is associated with a wide range of cognitive and psychiatric sequel...

Authors: Nicholas M. Burgess, Wendy Kelso, Charles B. Malpas, Toby Winton-Brown, Timothy Fazio, Julie Panetta, Gerard De Jong, Joanna Neath, Sonny Atherton, Dennis Velakoulis and Mark Walterfang

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are p...

Authors: Zahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, Karina Rønlund and Anette Bygum

Real-world evidence on Kovaltry (81-8973) in children with moderate or severe hemophilia A in Europe: a nested cohort analysis

Untreated hemophilia A patients may experience recurrent bleeding events leading to debilitating joint damages. While RCT and pharmacokinetic data support the value of Kovaltry [an unmodified full-length recom...

Authors: Jamie O’Hara, Ceri Hirst, Jose Francisco Cabre Marquez and Tom Burke

Exome sequencing in paediatric patients with movement disorders

Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The ob...

Authors: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau…

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidenc...

Authors: Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Klane K. White

Neuroendocrine liver metastasis from the small intestine: Is surgery beneficial for survival?

Neuroendocrine neoplasia of the small intestine (siNEN) are frequently diagnosed with liver metastases. The impact of the presence of liver metastases on overall survival and the necessity of surgery for liver...

Authors: Andreas Selberherr, Simon Freermann, Oskar Koperek, Martin B. Niederle, Philipp Riss, Christian Scheuba and Bruno Niederle

Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)

Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics ...

Authors: Maxim Avanesov, Lennart Well, Azien Laqmani, Thorsten Derlin, Vincent M. Riccardi, Gerhard Adam, Victor-Felix Mautner and Johannes Salamon

Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism with autosomal recessive inheritance that may cause life-threatening events. Treatment with triheptanoin, a s...

Authors: Thomas Zöggeler, Katharina Stock, Monika Jörg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Bürgi and Daniela Karall

Correlation of retinal and choroidal microvascular impairment in systemic sclerosis

To investigate the correlation between retinal and choroidal microperfusion in patients with systemic sclerosis (SSc) using optical coherence tomography angiography (OCTA).

Authors: Felix Rommel, David Prangel, Michelle Prasuhn, Salvatore Grisanti and Mahdy Ranjbar

Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research

For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatment...

Authors: Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson and Beth K. Potter

The patient journey toward a diagnosis of hereditary transthyretin (ATTRv) amyloidosis

Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading...

Authors: Montserrat Vera-Llonch, Sheila R. Reddy, Eunice Chang, Marian H. Tarbox and Michael Pollock

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS...

Authors: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi and Carlo Dionisi-Vici

Psychological processes in the experience of hereditary angioedema in adult patients: an observational study

Hereditary angioedema associated to C1 inhibitor deficiency (C1-INH-HAE) is a pathological condition characterized by episodes of subcutaneous swelling and it is frequently associated with discomfort and socia...

Authors: Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro and Maria Francesca Freda

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, ...

Authors: Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye…

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreve...

Authors: Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens and Pieter A. van Doorn

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder...

Authors: Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz and Eva Morava

Fingolimod in children with Rett syndrome: the FINGORETT study

Rett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and ca...

Authors: Yvonne Naegelin, Jens Kuhle, Sabine Schädelin, Alexandre N. Datta, Stefano Magon, Michael Amann, Christian Barro, Gian Paolo Ramelli, Kate Heesom, Yves-Alain Barde, Peter Weber and Ludwig Kappos

Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Dia...

Authors: Stéphane Vignes, Juliette Albuisson, Laurence Champion, Joël Constans, Valérie Tauveron, Julie Malloizel, Isabelle Quéré, Laura Simon, Maria Arrault, Patrick Trévidic, Philippe Azria and Annabel Maruani

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and mole...

Authors: Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha and Anna Tylki-Szymańska

Quality of life in Italian patients with Multiple endocrine neoplasia type 1 (MEN 1): results of an extensive survey

MEN1 is a complex, rare, syndrome inherited in an autosomal dominant tract and characterized by the development of multiple neuroendocrine tumors, requiring lifelong surveillance and multiple medical and surgi...

Authors: Francesca Giusti, Federica Cioppi, Caterina Fossi, Francesca Marini, Laura Masi, Francesco Tonelli and Maria Luisa Brandi

Oral disorders in Children with Prader–Willi syndrome: a case control study

Authors: Sonal Lavakumar Budihal, Aya Mohammad Ahmad, Adama Sani Usman, Anusha Sreejith and Jayadevan Sreedharan

Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy

To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation.

Authors: Camille S. Corre, Natalie Grant, Reza Sadjadi, Douglas Hayden, Catherine Becker, Pablo Gomery and Florian S. Eichler

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme ac...

Authors: Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar and Simon A. Jones

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the gene...

Authors: K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton and Marie E. Faughnan

Bone fragility in patients affected by congenital diseases non skeletal in origin

Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, sev...

Authors: L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz and M. L. Brandi

Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also ...

Authors: Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster, Zeljko Uzelac, Sophia Platen, Christina Gipperich, Gresa Ranxha, Gary Wieselmann, Alma Osmanovic, Albert C. Ludolph, Susanne Petri and Dorothée Lulé

Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines

This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-...

Authors: Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum and Julio Tanabe

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therap...

Authors: Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer and Joel Frader

Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study

Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the...

Authors: Mei Yao, Ying Ma, Ruiying Qian, Yu Xia, Changzheng Yuan, Guannan Bai and Shanshan Mao

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carrier...

Authors: Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne and Ryan K. C. Yuen

Acute encephalopathy in children with tuberous sclerosis complex

We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC).

Authors: Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, Masaya Kubota, Takashi Shiihara, Tohru Okanishi, Ryuta Tanaka, Ichiro Kuki, Tetsuhiro Fukuyama, Mitsuru Kashiwagi, Mitsuru Ikeno, Kazuo Kubota, Manami Akasaka, Masakazu Mimaki and Akihisa Okumura

RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer

The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived fr...

Authors: Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo and Salud Borrego

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy

Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges in clinical trial design. Alternative strategies ...

Authors: Eve Fouarge, Arnaud Monseur, Bruno Boulanger, Mélanie Annoussamy, Andreea M. Seferian, Silvana De Lucia, Charlotte Lilien, Leen Thielemans, Khazal Paradis, Belinda S. Cowling, Chris Freitag, Bradley P. Carlin and Laurent Servais

Patient’s thoughts and expectations about centres of expertise for PKU

In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE’s.

Authors: A. M. J. van Wegberg, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. van Vliet and F. J. van Spronsen

Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature

Langerhans cell histiocytosis (LCH) is a rare disease that originates from the uncontrolled proliferation and accumulation of bone marrow-derived immature myeloid dendritic cells. Dendritic cells are a type of...

Authors: Nahid Reisi, Pouran Raeissi, Touraj Harati Khalilabad and Alireza Moafi

French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)

Systemic necrotizing vasculitis comprises a group of diseases resembling polyarteritis nodosa and anti-neutrophil cytoplasmic antibody-associated vasculitis (ANCA): granulomatosis with polyangiitis, eosinophil...

Authors: Benjamin Terrier, Raphaël Darbon, Cécile-Audrey Durel, Eric Hachulla, Alexandre Karras, Hélène Maillard, Thomas Papo, Xavier Puechal, Grégory Pugnet, Thomas Quemeneur, Maxime Samson, Camille Taille and Loïc Guillevin

Diagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab

On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of S...

Authors: Fabio Pagella, Roberta Lizzio, Sara Ugolini, Giuseppe Spinozzi, Eugenia Maiorano, Patrizia Suppressa, Carlo Sabbà and Elina Matti

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestati...

Authors: Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones and Erich Schneider

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage ...

Authors: M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri…

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases a...

Authors: Talarico Rosaria, Cannizzo Sara, Lorenzoni Valentina, Marinello Diana, Palla Ilaria, Pirri Salvatore, Ticciati Simone, Trieste Leopoldo, Triulzi Isotta, Terol Enrique, Bucher Anna and Turchetti Giuseppe

Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis

Unbiased in silico approaches applied to genome-wide data prioritized putative functional gene variants associating with treatment-resistant ophthalmoplegic myasthenia gravis (OP-MG). Although altered expressi...

Authors: Tarin A. Europa, Melissa Nel and Jeannine M. Heckmann

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have ...

Authors: Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa and Maciej Robert Krawczyński

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological c...

Authors: Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan and Zhaoxia Wang

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically con...

Authors: Soo Yeon Kim, YoungKyu Shim, Young Joon Ko, Soojin Park, Se Song Jang, Byung Chan Lim, Ki Joong Kim and Jong-Hee Chae

Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

An amendment to this paper has been published and can be accessed via the original article.

Authors: Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

The ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs). To perform a pr...

Authors: C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, C. Brown, A. Finglas, R. Francisco, S. Sestini, J. M. Heard and M. Scarpa

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential c...

Authors: Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu and Lianshu Han

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.

Authors: Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze and Saadet Mercimek-Andrews