- Lower mitochondrial DNA copy number in ATTRV50M Swedish carriers. [Journal Article]
- CONCLUSIONS: These findings indicate an association between lower mtDNA copy numbers and symptomatic disease in Swedish TTR p.Val50Met carriers, suggesting potential mitochondrial involvement in disease progression.
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- Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy. [Journal Article]
- CONCLUSIONS: Long-term treatment with ERT or PCT in FD is associated with a largely stable retinal phenotype. Retinal imaging parameters remain structurally preserved over time, with only mild RNFL thinning observed, suggesting limited progressive retinal neurodegeneration.
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- Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study. [Multicenter Study]
- CONCLUSIONS: This 18-month interim analysis supports Carbaglu® as a beneficial long-term treatment option for patients with PA and MMA, with particular promise when initiated early in life. Ongoing follow-up will further clarify long-term outcomes and inform optimisation of chronic management strategies.
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- Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots. [Journal Article]
- CONCLUSIONS: These results from our pilot programs demonstrate that NBS enables reliable early identification of MLD and support streamlined care pathways leading to timely intervention. Importantly, this study provides real-world evidence illustrating that NBS for MLD can enable timely, pre-symptomatic treatment and structured surveillance within standard national healthcare systems. These findings further substantiate the value of NBS for MLD at a critical moment as several countries consider national implementation of MLD screening.
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- Hyperphagia in Prader-Willi syndrome: linking hypothalamic dysfunction to clinical assessment and management across the lifespan. [Review]
- CONCLUSIONS: Hyperphagia in PWS should be conceptualised as a complex, multidimensional disorder requiring comprehensive assessment and integrated management. Future priorities include development of additional validated outcome measures, identification of biomarkers, and care models that better align mechanistic insights with real-world clinical practice.
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- Real world data from the Heidelberg Registry of Chronic Singultus (HeReChroS). [Journal Article]
- CONCLUSIONS: HeReChroS offers a large dataset of patients with chronic singultus, enabling in-depth analysis of this rare disease. Quality of life is markedly impaired, and management remains challenging. Expanding the registry across countries and languages would enhance the statistical power and generalizability. German Clinical Trials Registry (Number: DRKS00033956, 25 March 2024, URL: https://www.drks.de/DRKS00033956 ).
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- Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients. [Journal Article]
- CONCLUSIONS: Dual molecular diagnoses occur in approximately 3.8% of molecularly diagnosed patients and frequently involve de novo dominant variants. WES effectively detects multiple variant types (including SNV, CNV, exon deletions, UPD, and mosaicism) providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes.
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- Diagnosis of rare diseases based on facial phenotype: a quantitative assessment using 2D and 3D photography in Stickler syndrome. [Journal Article]
- Stickler syndrome (SS) is a rare genetic disorder caused by mutations in collagen-encoding genes. Patients with SS are at an increased risk of retinal detachment, with ophthalmologic complications often presenting as the first symptom due to significant diagnostic delays. These delays contribute to severe visual impairment, even in early childhood, making diagnostic uncertainty a major clinical c…
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- Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER. [Review]
- CONCLUSIONS: This European template provides a practical, adaptable framework aimed at supporting harmonised, multidisciplinary, and patient-centred care for rare liver diseases across European healthcare settings. Future work should evaluate implementation, usability, and impact on care coordination and patient experience.
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- Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay. [Journal Article]
- CONCLUSIONS: In this Ukrainian cohort, neuronopathic GD demonstrated distinct clinical trajectories, with rapidly progressive infantile disease in type II and heterogeneous presentation with marked diagnostic delay in type III. Hepatosplenomegaly was a common systemic feature during disease progression, but should not be interpreted as an isolated stratifying sign. Its presence, particularly in combination with early or progressive neurological manifestations, should raise suspicion of neuronopathic GD.
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- Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study. [Journal Article]
- CONCLUSIONS: Silent aspiration is common in NPC1 and closely linked to advancing neurologic disease severity than to age-of-onset phenotype. Bedside clinical evaluations may underestimate silent aspiration; proactive longitudinal swallowing surveillance is warranted in individuals with higher NSS/ASIS scores, seizure history, pediatric weight decline, or evolving motor-speech impairment. These findings support incorporating overt and silent aspiration alongside swallowing function, into routine care and therapeutic trials.
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- Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience. [Journal Article]
- CONCLUSIONS: These findings have significantly enhanced the understanding of the clinical and genetic profiles of SD in Guangxi, elucidating the mutation spectrum of the associated causative genes. This study provides valuable clinical experience that can facilitate the effective implementation of genetic testing in the context of SD.
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- Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review. [Journal Article]
- CONCLUSIONS: This scoping review shows that intervention research in PTHS remains at an early stage, with an evidence base dominated by descriptive case studies and few systematic evaluations. This limits the ability to formulate robust, evidence-based treatment recommendations. There is a need for more rigorous research designs in future research, that enable causal inference and systematic outcome measurement. Moreover, future studies should broaden the scope of intervention research to include communication, behavior, participation, physical activity and quality of life, alongside medical management, to better support the complex needs of individuals with PTHS. Increased focus on family impact and long-term outcomes may further enhance understanding and care strategies for this population.
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