ACID-SPHINGOMYLENASE-DEFICIENCY-NIEMANN-PICK

RARE-DISEASE

Management of ASMD - Expert opinion: Professor Moeen Al Sayed

Professor Moeen gives a detailed explanation on how Olipudase Alfa acts in the body once administered.

Management of ASMD - Expert opinion: Professor Fatma Al- Jasmi

Professor Fatma explains the effect of Olipudase Alfa on the symptoms presented in patients with ASMD.

POMPE

Navigating the Pompe Disease Journey

Recognizing key signs and symptoms along the way

<h2>Consensus based on literature supporting clinical presentation and recommendations</h2>
Literature Analysis on LOPD Symptoms (Rheumatology): Hierarchy of Evidence

<ul>
 <li>Systemic review and meta-analysis</li>
 <li>Randomized controlled trials</li>
 <li>Observational studies (cohort studies/screening studies)</li>
 <li>Case series studies</li>
 <li>Case series, case reports</li>
 <li>Expert Opinion</li>
</ul>

<ul>
 <li>&nbsp;11 studies for adult#&nbsp;LOPD</li>
</ul>

<h3 style="text-align: center;">Rheumatology-Specific</h3>
Clinical Presentation for Adult#&nbsp;LOPD Proposed During the First Meeting

<ul>
 <li>Unexplained general/inflammatory myopathy</li>
 <li>Asymptomatic hyperCKemia/paucisymptomatic</li>
 <li>Unexplained LGMW</li>
 <li>Polymyositis non-responding to steroids</li>
</ul>

<table border="1" cellpadding="1" cellspacing="1" style="width:100%;">
 <tbody>
 <tr>
 <td style="text-align: center;">High CK/elevated 
 LDH, ALT, and AST</td>
 </tr>
 </tbody>
</table>

<h3 style="text-align: center;">Rheumatology-Specific Diagnostic Algorithm Proposed During the Second Meeting</h3>

<h2>Conclusion</h2>
A consensus-based diagnostic algorithm simplifies LOPD diagnosis across specialties
<ul>
 <li>Guides clinicians in the differential diagnosis of LOPD</li>
 <li>Facilitates direct referral for early and accurate diagnosis of LOPD</li>
</ul>

Recommendation
Testing for Pompe disease must be done if any one specialty-specific symptom plus elevated CK/LDH/ALT/AST or a family history of unexplained muscle weakness are present.

<h2>Conclusion</h2>
*The age of patients with pediatric/juvenile LOPD ranges from 1 to 17 years; #The age of patients with adult LOPD is usually 18 years and above.

Abbreviations

Reference

Expert Group Consensus From the Arabian Peninsula On the Diagnosis of Lopd

OTHER-RARE-DISEASE-TOPICS

Legacy Video for Rare Disease Academy

Recap video for Rare Disease academy over the years including save the date for the 6th&nbsp;Rare Disease academy.

A survey was conducted to quantify:

Object case:&nbsp;BWS&nbsp;was used to explore 15&nbsp;ASMD symptoms/risks.

<h2>Results</h2>
<h3>Baseline characteristics</h3>

Median age
<ul>
 <li>5 years&nbsp;for patients in the US</li>
 <li>3 years&nbsp;for children of parents from the US and the UK</li>
</ul>

Symptoms
<ul>
 <li>Abdominal enlargement</li>
 <li>Abdominal pain</li>
 <li>Fatigue</li>
 <li>Shortness of breath</li>
</ul>

<h2>Cognitive pretesting interviews</h2>
<ul>
 <li>
 Parents and patients reported difficulty in identifying ASMD-associated symptoms.</li>
 <li>Parents were unaware of their child experiencing ASMD symptoms unless indicated by the child.</li>
</ul>

<h3>Patients and parents</h3>
The largest differences in severity levels were observed for:
<ul>
 <li>Fatigue</li>
 <li>Joint pain</li>
 <li>Abdominal pain</li>
</ul>

<ul>
 <li>Patients and parents had similar preferences for ranking symptoms/risks.</li>
 <li>A wide range of symptoms displayed heterogeneity in samples.</li>
</ul>

black

*Severe fatigue: Fatigue so severe that the respondent might need help taking care of themselves and doing daily activities.

Impact of symptoms and risk of ASMD on patients and caregivers

✓&nbsp;Improve detection rate of potential ✓&nbsp;ASMD&nbsp;Avoid diagnostic delays

A multicenter, prospective study

DBS testing ✓&nbsp;GBA enzyme activity ✓&nbsp;ASM enzyme activity

<h3>Genetic confirmatory testing done for 5933 cases</h3>

SMPD1 gene sequencing for 1171 cases

GBA gene sequencing for 4762 cases

ASMD:GD varies by region

Overall,&nbsp;1 out of 4&nbsp;patients with suspected GD suffered from ASMD.

Most of the cases with ASMD from the Middle East were newborns and with GD were adults.

Higher number of confirmed ASMD patients in Pakistan, Iraq, Turkey, and Iran

<h3>Egypt had the highest number of GD cases followed by Turkey, while Iraq had the highest number of ASMD cases.</h3>

Differential diagnostics for ASMD in patients suspected to have GD

<h2>RSV Is a Common Respiratory Virus With Symptoms Varying by Age-Group</h2>

Abbreviation

References

<h2>RSV Causes Substantial Disease Burden for Newborns and Infants Globally</h2>

Based on 2019 global data.

RESPIRATORY-SYNCYTIAL-VIRUS

VACCINES

Burden of Disease

<h2>RSV is a Leading Cause of LRTIs Among Infants Worldwide1,2</h2>
Estimated Percentage of acute LRTI attributable to RSV infection

LRTI, lower respiratory tract infection. 
 Data&nbsp;are derived from different studies and over different years.
aOnly includes hospitalizations due to bronchiolitis; bRSV was a cause of 28% of all hospitalization cases in infants in France.&nbsp;

<h2>Prevalence in RSV hospitalized with bronchiolitis during seasonal epidemics</h2>

&nbsp;aCoronavirus type OC43, 229E, NL63, and HKU1. Age range of children not specified.

<h2>RSV Average Hospitalization days</h2>

<h3>6.5 days in hospital</h3>
total of 754 beds (502 inpatient beds, 56 emergency beds, 77 ICU beds, 32 psychiatry beds, and 87 special auxiliary beds).

AComorbidities assessed: congenital cardiopathies, 2.3%; congenital defects with cardiac affectation, 0.7%; prematurity, 0.3%; &#xb;bronchopulmonary dysplasia, 1%.

<h2>RSV Causes Substantial Hospitalization Among All Infants and Young Children In Spain</h2>
Epidemiologic survey in Spain estimating the burden of RSV in all&nbsp;children &lt;5 years of age during a 15-year period (1997–2011)1

Due to bronchiolitis in children &lt;5 years of age

326,175
 hospital discharges

on average in children ≤2 years of age

5.9 days
 in hospital

highest incidence among all age ranges

4,136/100,000 incidence of hospitalization during 1st year of life

355 (80%)&lt;12 months of age 335 (75%) without comorbidities*

446
 deaths

Only 3.2% of children &lt;5 years of age presented with ≥1 comorbidity*

96.8 %&nbsp;of children were otherwise healthy

<h2>RSV Classification</h2>
RSV is a 15 kb negative sense single stranded RNA virus encoding 11 proteins1,2

Humans and chimpanzees are the&nbsp;only known natural hosts&nbsp;for human RSV, although a variety of small animal species may be experimentally infected with RSV (Calves, Ferrets, Rodents)2. Currently, there is&nbsp;no known RSV reservoir&nbsp;in the off-season5.

RSV is one of the&nbsp;last major causes&nbsp;of serious paediatric infections for which&nbsp;no vaccine&nbsp;or other&nbsp;wide-scale intervention&nbsp;is available1

RSV History

<h2>RSV is classified into two subtypes – RSV-A and RSV-B; based on variation in the G protein1</h2>

<h3>Appearance of RSV-A and RSV-B genotypes and dominance over time (1961–2014)1</h3>

<ul>
 <li>RSV-A and -B diverged in 17664</li>
 <li>RSV-A and RSV-B co-circulate</li>
 <li>Dominance shift between RSV-A and RSV-B types every 1-2 years2</li>
 <li>There are no significant differences in severity between RSV-A and B2</li>
</ul>
RSV-A
<ul>
 <li>9-16 distinct genotypes(GA1-GA7, SAA1, NA1-4 and ON1)3,5</li>
</ul>
RSV-B
<ul>
 <li>22-32 distinct genotypes(BA1-14, GB1-GB5, SAB1-4, URU1-2, NZB1-2, BA-CCA, BA-CCB, BA-C, CBB and CB)4,5</li>
</ul>
No consensus on RSV genotype definition6

<ul>
 <li>RSV&nbsp;is an enveloped, medium-sized (120 to 300 nm)&nbsp;RNA&nbsp;virus2</li>
 <li>Nonsegmented, single-stranded, negative-sense genome2</li>
 <li>The&nbsp;viral envelope&nbsp;has a bilipid layer derived from the plasma membrane of the host cells2</li>
 <li>Its surface has transmembrane surface glycoprotein spikes 11 to 12 nm in length and 6 to 10 nm apart2</li>
 <li>The&nbsp;10 viral genes&nbsp;are depicted by the divided bars2</li>
 <li>Each viral gene transcribes a single messenger RNA (mRNA) encoding a single protein, with the exception of M2 mRNA, which transcribes two proteins, M2-1 and M2-22</li>
</ul>

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