Acid sphingomyelinase deficiency (ASMD) and Pompe disease are rare genetic lysosomal storage diseases with estimated birth prevalences of 0.4-0.6/100.000¹ (ASMD) and 1:23,232² (Pompe disease).

ASMD is characterized by multi-organ involvement and heterogeneous clinical manifestations. The most commonly affected organs include spleen, liver and lungs, with brain involvement and rapidly progressive neurodegeneration in the more severe types.³ ASMD negatively affects quality of life in patients and their families⁴ and may impact the life span of affected individuals.⁵

Pompe disease characteristically causes progressive muscle weakness and most commonly affects skeletal and respiratory muscles, and the heart in more severe cases.⁶

Due to their rarity and clinical heterogeneity, ASMD and Pompe disease are often mistaken for other more common diseases, and patients may experience significant delay in getting the right diagnosis and thus access to appropriate disease management.

As disease awareness about both of these diseases is low, publishing more data and clinical experience, having discussions with experts and peers, and sharing them with a broader medical community will be important to increase overall disease knowledge and ultimately improve patient care. That is why Sanofi is supporting the sharing of knowledge and clinical experience through the 2024 Medical Award in ASMD and Pompe Disease.

Sanofi has involved GK Pharmacomm located in UK to operate and manage the 2024 Medical Award on its behalf.

The applicant is solely and exclusively responsible for obtaining all required patient permissions and consents for use in patient case presentations, publications, abstracts or in connection with their applications. The applicant is similarly responsible for ensuring compliance with all applicable laws governing the content contained in application submissions, publications and presentations, including, but not limited to, all laws and regulations governing patient privacy and the physician/patient relationship. Sanofi is not responsible for ensuring compliance with such laws and regulations, and expressly disclaims any potential legal liability related to such compliance.

The 2024 Medical Award in ASMD and Pompe Disease is not intended to influence the independent medical judgment or decision-making of any applicant or award winner.  The 2024 Medical Award in ASMD and Pompe Disease does not constitute an inducement of any kind under the US Anti Kickback Statute, 42 U.S.C. § 1320a7b(b) or any other similar law or regulation in any jurisdiction.

If you are interested in participating in the 2024 edition of the Medical Award in ASMD and Pompe Disease, check the “Terms of Participation” tab for more information.

References: 1. Kingma SD, et al. Best Pract Res Clin Endocrinol Metab 2015;29(2):145-157. 2. Sun Park K. Mol Genet Metab Rep. 2021;27:100734. 3. Wasserstein MP, et al. Mol Genet Metab. 2019;126(2):98-105. 4. McGovern MM et al, Pediatrics. 2008;122(2):e341-9. 5. McGovern MM, et al. Genet Med. 2013;15(8):618-23. 6. Kishnani P, et al. Am J Med Genet C Semin Med Genet. 2012;160C:1-7.