Primary Outcomes

Measure: Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD

Time: Minimum 2 years

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Measure: Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time

Time: Minimum 2 years

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Description: Clinical Global Impression rating scale (CGI, modified), Neuropathy Symptoms Score (NSS) , Neuropathy Disability Score(NDS), Brief Ataxia Rating Scale (BARS), The Essential Tremor Rating Assessment Scale (TETRAS), Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition (WPPSI™ - IV) , Wechsler Intelligence Scale for Children - Fifth Edition (WISC®-V) and Mini-Mental State Examination (MMSE)

Measure: Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion

Time: Up to 2 years

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Description: EuroQol-5D-5L , EQ-5D-Y, Pediatric Quality of Life Inventory (PedsQL) core module, 36-Item Short Form Health Survey (SF-36) version 2 , MMRC dyspnea score, PedsQL Multidimensional Fatigue Scale, PedsQL Pediatric Pain Questionnaire, splenomegaly-related symptoms (SRS) v3, Patient Global Impression of Change (PGIC), Patient Global Impression of Symptom Severity (PGIS)

Measure: Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion

Time: Up to 2 years

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Secondary Outcomes

Measure: Number of patients with at least one abnormal value in laboratory parameters

Time: Minimum 2 years

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Measure: Forced vital capacity (FVC) level over time since the time of diagnosis

Time: Minimum 2 years

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Measure: Forced expiratory volume in the first second of the maneuver (FEV1)

Time: Minimum 2 years

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Measure: Total lung capacity (TLC)

Time: Minimum 2 years

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Measure: Diffusion capacity of CO (DLCO) Test

Time: Minimum 2 years

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Measure: Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2)

Time: Minimum 2 years

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Measure: Liver volume

Time: Minimum 2 years

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Measure: Liver stiffness score

Time: Minimum 2 years

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Measure: Spleen volume

Time: Minimum 2 years

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Measure: Bone maturation for age (pediatric patients only)

Time: Minimum 2 years

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Measure: Age appropriate Z-score deviation for height and weight (children only)

Time: Minimum 2 years

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Measure: Body mass index (BMI) for adults only

Time: Minimum 2 years

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Measure: Optimization and validation of ASMD disease severity scoring system (DS3)

Time: Up to 2 years

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Measure: Validation of ASMD PRO instruments (24h and 7-day recall)

Time: UP to 2 years

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Measure: Niemann-Pick B Health Assessment Questionnaire

Time: UP to 2 years

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Measure: Health-related Productivity Questionnaire

Time: UP to 2 years

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Measure: Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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Measure: Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype

Time: Minimum 2 years

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