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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Real-World Clinical Profiles of Patients With Alph ...
Real-World Clinical Profiles of Patients With Alpha-Mannosidosis: Baseline Evaluations From the SPARKLE Registry
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Pdf Summary
The study presented at the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting aimed to understand the clinical profiles of patients with alpha-mannosidosis enrolled in the SPARKLE registry. As of July 2022, there were 58 patients enrolled in the registry, with a mean age of 21.6 years at enrollment. The mean age at first manifestation of alpha-mannosidosis was 1.9 years, and the mean age at diagnosis was 8.0 years. The most common clinical signs and symptoms reported among patients included cognitive disability, hearing impairment, facial dysmorphism, balance disturbances, and walking difficulties. These symptoms indicate that alpha-mannosidosis primarily affects the neurological and musculoskeletal systems.<br /><br />The study findings are consistent with previous estimates of disease symptomology. However, heart and lung abnormalities were not commonly associated with alpha-mannosidosis, although a small number of patients in the registry did have conditions such as aortic/mitral valve regurgitation and restrictive lung function. The authors suggested that increased awareness of clinical signs and symptoms across multiple body systems could aid in earlier diagnosis and better management of the disease.<br /><br />The study had some limitations, including the subjective nature of symptom assessment and variations in data availability due to differences in standard of care across sites. Additionally, some participants had started enzyme replacement therapy prior to the baseline evaluation. Despite these limitations, the study provides valuable insights into the real-world clinical profiles of patients with alpha-mannosidosis and highlights the importance of early diagnosis and personalized treatment.
Asset Subtitle
Submitter Only - Adam Bijou, MD; Presenting Author - Nicole M. Muschol, MD; Co-Author - Nathalie Guffon, MD; Co-Author - Andrea Ballabeni, PhD; Co-Author - Line Borgwardt, MD, PhD; Co-Author - Allan Lund, MD, DMSc; Co-Author - Mercedes Gil-Campos, PhD; Co-Author - Francesca Dona, NA; Co-Author - Julia B. Hennermann, MD;
Meta Tag
Clinical History
Enzyme Replacement Therapy
Lysosomal Diseases
Therapy
Co-Author
Nathalie Guffon, MD
Co-Author
Andrea Ballabeni, PhD
Co-Author
Line Borgwardt, MD, PhD
Co-Author
Allan Lund, MD, DMSc
Co-Author
Mercedes Gil-Campos, PhD
Co-Author
Francesca Dona, NA
Co-Author
Julia B. Hennermann, MD
Presenting Author
Nicole M. Muschol, MD
Submitter Only
Adam Bijou, MD
Keywords
alpha-mannosidosis
clinical profiles
symptoms
neurological system
musculoskeletal system
cognitive disability
facial dysmorphism
heart abnormalities
lung abnormalities
personalized treatment
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