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| I wanted to take a moment to introduce myself as a member of the Chiesi team and share some information below about alpha-mannosidosis—the ultra-rare disease for which we are seeking to speed up the diagnosis process. |
| Alpha-mannosidosis is a rare autosomal genetic lysosomal storage disorder (LSD) caused by mutations affecting the α-mannosidase lysosomal enzyme.1 It is a progressive disorder, and its presence should be suspected in patients with cognitive disabilities, skeletal changes (eg, swollen joints, curved spine), hearing loss, and recurrent infections.2 |
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{{customText[falseAre you working with any patients who present some or all of these symptoms? If so, your patient may be living with alpha-mannosidosis.trueAre you working with any patients with hearing loss who also present one or more of these other symptoms? If so, your patient may be living with alpha-mannosidosis.trueAre you working with any patients experiencing skeletal changes who also present one or more of these other symptoms? If so, your patient may be living with alpha-mannosidosis.trueAre you working with any patients with cognitive disabilities who also present one or more of these other symptoms? If so, your patient may be living with alpha-mannosidosis.]}}
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{{customText[falseIf you do suspect alpha-mannosidosis in your patient, I can set up an in-person meeting to go over some more information about identifying this ultra-rare disease.trueIf you do suspect alpha-mannosidosis in your patient, I can set up a call to go over some more information about identifying this ultra-rare disease.trueIf you do suspect alpha-mannosidosis in your patient, I can set up a video chat to go over some more information about identifying this ultra-rare disease.trueIf you would like some more information about diagnosing alpha-mannosidosis, I can set up an in-person meeting to discuss the signs in more depth.trueIf you would like some more information about diagnosing alpha-mannosidosis, I can set up a call to discuss the signs in more depth.trueIf you would like some more information about diagnosing alpha-mannosidosis, I can set up a video chat to discuss the signs in more depth.]}}
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| Please feel free to get in touch if you’d like—my contact information is below. |
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References: 1. Beck M, Olsen KJ, Wraith JE, et al. Natural history of alpha mannosidosis a longitudinal study. Orphanet J Rare Dis. 2013;8:88. doi:10.1186/1750-1172-8-88. 2. Malm D, Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis. 2008;3:21. doi:10.1186/1750-1172-3-21.
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