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European rabbits ( O ryctolagus cuniculus) are currently declining in most rural areas throughout central Europe, while city populations often reach high densities. We asked whether and how altered environmental conditions affect the social organization and burrow structures of European rabbit populations located at urban, suburban and rural sites in and around Frankfurt a. M. in Germany. Burrow densities (numbers per ha) increased along the rural-to-urban gradient, accompanied by a gradual shift from accumulated towards more evenly distributed burrows. Burrows became smaller and less complex with increasing degree of urbanity, and accordingly, also the number of rabbits inhabiting the same burrow decreased. It remains unclear whether urbanization first led to smaller rabbit group sizes and burrow structures then shifted as a consequence of this, or vice versa. Nevertheless, for both scenarios, we propose that increased structural heterogeneity of urban landscapes is the major factor behind the observed effects, as mosaic-like habitat patches in cities provide high and steady resource availability compared with the agriculturally transformed, open landscapes characterizing most rural areas in central Europe. [ABSTRACT FROM AUTHOR]

In a recent publication by Klein et al., the need for real-world data on rare diseases is highlighted. We strongly support this need, and the collaboration with the patient community to collect data, as promoted in this publication. Our concern, however, is that this paper may be misunderstood as suggesting that the Sanofi-run Rare Disease Registries (RDRs) are sufficient to provide the datasets needed to evaluate current and future therapies. Industry-driven registries focus on their own product(s) and, therefore, do not provide the opportunity to compare products from different companies. Today, multiple companies produce treatments for all diseases included in the RDRs. Each company will have to run its own registry for regulatory purposes. This will lead to data fragmentation, which is prohibitive of truly understanding the effects of the various treatment options for these rare diseases. Therefore, independently funded and owned registries are essential to generate real-world evidence (RWE) unrelated to specific products. We discuss options for this for Pompe disease, including the International Pompe Survey, which has collected patient-reported outcomes independently from industry since 2002. This letter aims to raise awareness of the problem of siloed data and advocate for a new way forward where independent registries provide post-marketing surveillance data., Competing Interests: Declarations. Ethics approval and consent: Not applicable. Consent for publication: Not applicable. Competing interests: This letter was written independently of the pharmaceutical industry. Benedikt Schoser has received unrestricted research grants from Amicus, Astellas, Roche. diagnostics, Marigold Foundation, AMDA Foundation and speaker’s honoraria from Amicus Therapeutics Inc., Alexion, Kedrion and Sanofi. He has participated as a scientific advisor for Amicus, Argenx, Astellas, Bayer, Pepgen, Sanofi, Spark and Taysha. He declares no stocks or shares. Pascal Laforet has received research grants from Amicus Therapeutics Inc. and Sanofi, AMDA Foundation, Association Francophone des Glycogénoses, Vaincre les Maladies Lysosomales (VML) and speaker’s honoraria from Amicus Therapeutics Inc. and Sanofi. He has participated as a scientific advisor for Amicus Therapeutics Inc., Sanofi and Spark Therapeutics. He declares no stocks or shares. Jordi Diaz-Manera has received research grants from Spark, Sarepta, Sanofi and Boehringer Ingelheim and payments for consultancy or as speaker from Amicus Therapeutics, Astellas, Sanofi, Sarepta, Lupin and Boehringer Ingelheim and payments for consultancy or as a speaker from Amicus Therapeutics, Astellas, Sanofi, Sarepta, Lupin and Spark. He declares no stocks or shares. Ans T. van der Ploeg has acted as advisor and participated in clinical trials, registries and/or investigational projects for Amicus Therapeutics, Alexion, AskBio, Astellas, Bayer, Biogen, Biomarin, Chiesi, Denali, Dynacure, Pharming, Sarepta, Sanofi Genzyme, Ultragenix under agreements between the industry and Erasmus MC University Medical Center. Nadine A. M. E. van der Beek has participated in advisory board meetings for Sanofi and Bayer and has received speaker honoraria from Sanofi under agreements between Erasmus MC University Medical Center and the relevant industry. All other authors declare no financial or other conflicts of interest., (© 2025. The Author(s).)

Background and Objectives: Myotonic dystrophy type 2 (DM2) is a multisystemic repeat disorder caused by the expansion of an unstable CCTG tetranucleotide repeat in the noncoding region of the CNBP gene. Standard diagnostic is based on Southern blot analysis or a unidirectional RP-PCR that amplifies the repeat from the downstream end., Methods: Our study reevaluated 80 patients (cohort 1) with clinical suspicion of DM2 but homozygous negative results using the standard diagnostic repeat-primed PCR (RP-PCR). Reanalysis was performed using a second RP-PCR that amplifies the repeat from the opposite direction. Individual samples were further analyzed by Oxford Nanopore Technology long-read sequencing, Sanger sequencing, and another RP-PCR. In addition, repeat expansions were further characterized in 168 patients with confirmed DM2 (cohort 2)., Results: We identified 5 of the 80 patients (cohort 1) with expanded repeats in CNBP and, as such, reclassified them as positive for DM2. The initial false-negative results were attributed to variants within the primer binding site of the standard RP-PCR in one patient and an additional novel (TCTG) n repeat downstream to the known (CCTG) n repeat in 4 other patients. By analyzing a cohort of 168 patients with confirmed DM2 (cohort 2), we found that the additional (TCTG) n repeat is present in at least 84% of patients., Discussion: Our study revealed the presence of an additional repeat (TCTG) n in most of the patients living with DM2. Large expansions of this repeat likely hinder sufficient amplification of the disease causing (CCTG) n repeat. Because the (TCTG) n repeat is likely mosaic in length, (CCTG) n repeat expansions are correctly detected in most patients. However, a few patients are at risk of a false-negative result using the standard RP-PCR, which had a false-negative rate of 0.7% (5/674) and a sensitivity of 97.3% in the cohort studied. Based on our findings, we propose (TG) v (TCTG) w (CCTG) n (TCTG') m as the updated model for the structure of CNBP repeat expansions and recommend adapting the diagnostic guidelines accordingly. The effect of the (TCTG) n repeat on the phenotype remains to be determined but could be key for establishing a phenotype-genotype correlation for DM2 that remained elusive so far., Competing Interests: The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)