ACID-SPHINGOMYLENASE-DEFICIENCY-NIEMANN-PICK

RARE-DISEASE

How is ASMD inherited?

This video explains how the condition is passed from parents to children.

<h2>Are you interested in knowing more about this topic?</h2>

Professor Tawfeq Ben Omran video on ASMD

Awareness on ASMD disease
Professor Tawfeq Ben Omran explains the signs and most common symptoms of the disease. In addition to that, he takes us through the different specialties that can encounter ASMD patients. He also highlights the necessity of increasing awareness in order to eliminate the long diagnostic odyssey.

Professor Moeen Al Sayed video on ASMD

Awareness on ASMD disease.
Professor Moeen Al Sayed gives a detailed overview of the complications faced by the patients suffering from ASMD disease from its most severe form to its most prevalent form.

Professor Fatma Al-Jasmi video on ASMD

Awareness on ASMD disease
In this video, Professor Fatma Al – Jasmi explains the causes of the disease and the different types falling under its spectrum. She explains the difference between each ASMD form and the main characteristics and symptoms related to each type.

<h2>ASMD types A/B and B: Manifestations progress less rapidly than in type A and may include any combination of the following1</h2>
Hepatomegaly is seen in &gt;70% of patients1,2* 
 Symptoms of hepatomegaly include enlarged abdomen and abdominal pain1,3

<ul>
 <li>Hepatomegaly</li>
 <li>Fibrosis and cirrhosis</li>
 <li>Dyslipidemia</li>
</ul>

LIVER

black

<ul>
 <li>Severe abnormalities (cognitive impairment, loss of motor function, etc)</li>
 <li>Hypotonia/hyporeflexia</li>
</ul>

NEUROLOGIC

<ul>
 <li>Splenomegaly (can be up to 30 times normal size)</li>
 <li>Pain, pressure, and early satiety due to enlarged spleen</li>
</ul>

SPLEEN

<ul>
 <li>Coronary artery or heart valve disease</li>
</ul>

CARDIAC

<ul>
 <li>Interstitial lung disease (ILD)</li>
 <li>Respiratory infections, including pneumonia</li>
 <li>Shortness of breath and chronic fatigue</li>
</ul>

LUNGS

<ul>
 <li>Back, limb, and/or joint pain</li>
 <li>Pathologic fractures</li>
 <li>Osteopenia</li>
 <li>Osteoporosis in adults</li>
</ul>

SKELETAL

<ul>
 <li>Thrombocytopenia</li>
 <li>Excessive bleeding and easy bruising</li>
 <li>Anemia</li>
 <li>Leukopenia</li>
</ul>

HEMATOLOGIC

<ul>
 <li>Growth delay and puberty delay in adolescents, with adult heights in the low-normal range</li>
 <li>Excessive bleeding and easy bruising</li>
 <li>Delays in reaching developmental milestones in children</li>
 <li>Learning disabilities, changes in behavior, and/or loss of mobility and coordination</li>
</ul>

GROWTH AND DEVELOPMENT

*Symptom prevalence data for hepatomegaly is only for patients with ASMD type B.

References

Potential Hepatic Manifestations of ASMD Often Overlap&nbsp;With Hepatic Disorders and Other&nbsp;Lysosomal Storage&nbsp;Diseases1&nbsp;
<table border="1" cellpadding="1" cellspacing="1" style="width:100%;">
 <tbody>
 <tr>
 <td style="width: 20%;">Potential hepatic symptoms of ASMD</td>
 <td style="text-align: center; width: 18%;">Hepatomegaly</td>
 <td style="text-align: center; width: 16%;">Elevated hepatic enzymes</td>
 <td style="text-align: center; width: 15%;">Fibrosis/ 
 cirrhosis</td>
 <td style="text-align: center; width: 15%;">Hepatic failure</td>
 <td style="text-align: center; width: 16%;">Portal hypertension</td>
 </tr>
 <tr>
 <td style="width: 20%;">ASMD1</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Chronic hepatitis B1-3</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Nonalcoholic fatty liver disease4,5</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Cryptogenic cirrhosis1,6,7</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔*</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Niemann-Pick disease type C1,8,9</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Lysosomal acid lipase deficiency1,10,11&nbsp;</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Gaucher disease1,12,13</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔†</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 </tbody>
</table>
*Aminotransferase levels, such as AST and ALT, are typically only mildly elevated or normal in those with cryptogenic cirrhosis.6 †Development of end-stage liver disease is rare with Gaucher disease and tends to include the associated complications of hepatic decompensation.12 
 ALT=alanine aminotransferase; ASMD=acid sphingomyelinase deficiency; AST=aspartate aminotransferase.

What Are the Signs and Symptoms of ASMD?

Welcome to UNCOVER ASMD GAUCHER podcast series where we talk about typical diagnosis of patient journey, challenges facing, new diagnostic technologies, effective ways to support patients and families and social stigma

<h3>Episode 1: ASMD &amp; Gaucher Disease</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

Uncover ASMD and GAUCHER

<h3>Episode 2: Similarities and Differences between Gaucher &amp; ASMD</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 3: Challenges in diagnosing of Gaucher and ASMD</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 4: Management of ASMD Gaucher Disease</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 5: Gaucher and ASMD from the patient`s eyes</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 6: Raising Awareness and Education and the role of the society</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

Respiratory Impairment in Acid Sphingomyelinase Deficiency (ASMD): A Case Report.

Acid sphingomyelinase deficiency (ASMD), also called Niemann-Pick disease, is a lysosomal storage disorder with some pulmonary involvement in adults. However, the disease may evolve towards clinically relevant respiratory symptoms that require referral to the pulmonologist for management. Based on two case reports illustrating respiratory impairment, the aim of this video which is based on a published case report is to review clinical features, diagnosis, respiratory prognostic and therapeutics for the pulmonologist.

Management of ASMD - Expert opinion: Professor Tawfeq Ben Omran

Professor Tawfeq explains the benefits of the ERT Olipudase Alfa on patients diagnosed with ASMD.

Inspiring Stories of Patients Living with ASMD

ASMD is associated with a high burden of disease that may limit physical, mental, and psychosocial well-being. A patient’s experience may include: Frequent hospitalizations, medications for symptomatic care, medical procedures, and increased need for medical devices. Reduced physical activity and difficulty navigating obligations at school, work, and in personal relationships. Watch those videos and know more about those patients’ stories.

ASMD Phenotypes

This video summarizes the phenotypes of Acid sphingomyelinase deficiency genetic Disease (ASMD). Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin.

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.

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>

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

Abbreviations

Reference

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>Study Objective</h2>
<h3>Guideline development process: AGREE II system and classification</h3>
<ul>
 <li>To develop clinical guidelines</li>
 <li>Standard of care for ASMD patients</li>
 <li>Using an SLR and the experiences of multidisciplinary experts (GDG)</li>
</ul>

<h2>Experts’ Recommendations for Classification and Diagnosis of ASMD</h2>

Acute neurovisceral, ASMD type A 
 Hepatosplenomegaly, proatherogenic lipid profile, thrombocytopenia, interstitial lung disease, skeletal involvement, liver disease, cherry red macula, hypotonia, and&nbsp;rapidly progressive neurodegeneration
Chronic neurovisceral, ASMD type A/B 
 All symptoms of ASMD type A along with&nbsp;delayed growth and puberty, slowly progressive neurodegeneration and cherry red macula (in few patients), and hypotonia
Chronic visceral, ASMD type B 
 All symptoms of type A/B&nbsp;with the absence of hypotonia and neurodegeneration and few patients with cherry red macula

<h2>Experts’ Recommendations for the Management of ASMD</h2>

<h3>Multidisciplinary assessment&nbsp;is recommended for all ASMD patients or as needed by:</h3>
<ul>
 <li>Primary care physician</li>
 <li>Metabolic diseases specialist</li>
 <li>Neurologist</li>
</ul>

<h3>Management of ASMD</h3>
ERT
<ul>
 <li>All patients with a confirmed diagnosis of ASMD and significant non-CNS</li>
 <li>Effectiveness of treatment should be monitored</li>
</ul>
Use of HSCT is experimental
<h3>Symptomatic treatment</h3>
<ul>
 <li>CLD should be monitored and treated for gastrointestinal bleeding</li>
 <li>Pulmonary disease may require long-term oxygen therapy</li>
</ul>

<h3>Recommended assessments for all ASMD patients</h3>
<table border="1" cellpadding="1" cellspacing="1" style="width:100%;">
 <tbody>
 <tr>
 <td>Assesment</td>
 <td>Frequency</td>
 </tr>
 <tr>
 <td>Baseline history</td>
 <td>At diagnosis 
 <ul>
 <li>Assess recurrent chest infections at diagnosis, then at each visit</li>
 </ul></td>
 </tr>
 <tr>
 <td>Pulmonary assessment</td>
 <td>
 <ul>
 <li>Chest radiograph and/or high-resolution chest CT to assess the extent of interstitial lung disease at diagnosis regardless of age, then every 2–4 years</li>
 </ul></td>
 </tr>
 <tr>
 <td>Musculoskeletal assessment</td>
 <td>At diagnosis, then at each visit</td>
 </tr>
 <tr>
 <td>Ophthalmologic evaluation</td>
 <td>At diagnosis</td>
 </tr>
 </tbody>
</table>

Consensus Guidelines for the Clinical Management of ASMD

<div>
 <h2>GENETIC PROFILE</h2>
 ASMD is an autosomal recessive LSD caused by pathogenic variants in the ASM enzyme–encoding gene sphingomyelin phosphodiesterase 1 (SMPD1). 
 Sphingomyelin helps regulate cellular processes, such as cell cycle regulation, cell signaling, and apoptosis. 
 When ASM activity is deficient, sphingomyelin cannot be sufficiently metabolized; it accumulates in lysosomes, particularly in macrophages and hepatocytes. This accumulation damages cells in multiple organs, leading to potentially life-threatening complications. 
 Males and females have an equal chance of being affected4
</div>

Historically known as Niemann-Pick disease type A (NPA) or infantile neurovisceral ASMD
<ul>
 <li>Onset: Early Infancy</li>
 <li>Phenotype: Rapidly progressive with acute multiorgan manifestations and neurodegeneration</li>
 <li>Life Expectancy: 2 to 3 years of age</li>
</ul>

Type A

Historically known as Niemann- Pick disease type A/B (NPA/B) or chronic neurovisceral ASMD
<ul>
 <li>Onset: Infancy to childhood</li>
 <li>Phenotype: Variably progressive with multiorgan manifestations and differing degrees of neurologic involvement</li>
 <li>Life Expectancy: Between early childhood and adulthood</li>
</ul>

Type A/B

Historically known as Niemann- Pick disease type B (NPB) or chronic visceral ASMD
<ul>
 <li>Onset: Infancy to childhood</li>
 <li>Phenotype: Chronic with multiorgan manifestations and no or only minor neurologic involvement</li>
 <li>Life Expectancy: Between childhood and late adulthood</li>
</ul>

Type B

The rarity of ASMD, heterogeneity of its manifestations, and challenging differential diagnosis can result in delayed diagnosis and management of patients.
Early diagnosis of ASMD is critical for appropriate management.

<h3>IMPORTANCE OF EARLY DIAGNOSIS</h3>

A simple enzyme activity test can be performed on a DBS (dried blood spot) to indicate reduced ASM activity.
A positive DBS enzyme assay is highly indicative of ASMD, but an analysis from a whole blood sample and/or genetic testing is required to confirm the diagnosis.5

HOW TO DIAGNOSE

Identifying known disease-causing alleles of ASMD allows for
<ol>
 <li>Individual genetic counseling</li>
 <li>Carrier screening for at-risk individuals</li>
 <li>Family planning</li>
</ol>

ASMD

What is ASMD?

This video explains the different types of the disease, its causes and its symptoms.

How do you know if you or a loved one has ASMD?

This video explains the diagnosis process and its potential delay due to overlap with other conditions.

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Acid Sphingomylenase Deficiency Niemann Pick

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