Primary Objective: * To describe the clinical features and their severity at the time of diagnosis and their evolution over time in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD * To describe Clinician-Reported Outcomes (ClinROs) and Patient-Reported Outcomes (PROs) at enrollment and their evolution over time; disease severity at the time of diagnosis and its evolution over time Secondary Objectives: * To describe abnormal values in laboratory parameters and all values of specific clinical and imaging assessments at the time of diagnosis and their evolution over time * To study the use and applicability towards validation of a newly developed ASMD disease severity scoring system * To study the use and applicability towards validation of a newly developed ASMD PRO tool * To describe ASMD-related disease burden among patients with ASMD, caregivers, and healthcare resource utilization * To describe the association between patient demographics (eg, age, gender, race, Ashkenazi ancestry) and genotype with selected clinical features in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD
Estimated average of study duration (for each patient) is 2 years
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
OTHER
Masking
NONE
Enrollment
84
The investigational assessments will be performed
Investigational Site Number :8400002
Atlanta, Georgia, United States
Investigational Site Number :8400003
The Bronx, New York, United States
Investigational Site Number :8400001
Valhalla, New York, United States
Investigational Site Number :0320002
CABA, Argentina
Investigational Site Number :0320001
Córdoba, Argentina
Investigational Site Number :0560001
Leuven, Belgium
Investigational Site Number :0760001
Porto Alegre, Rio Grande do Sul, Brazil
Investigational Site Number :0760002
São Paulo, Brazil
Investigational Site Number :0760006
São Paulo, Brazil
Investigational Site Number :152001
Santiago, Chile
...and 18 more locations
Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD
Time frame: Minimum 2 years
Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time
Time frame: Minimum 2 years
Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion
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)
Time frame: Up to 2 years
Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion
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)
Time frame: Up to 2 years
Number of patients with at least one abnormal value in laboratory parameters
Time frame: Minimum 2 years
Forced vital capacity (FVC) level over time since the time of diagnosis
Time frame: Minimum 2 years
Forced expiratory volume in the first second of the maneuver (FEV1)
Time frame: Minimum 2 years
Total lung capacity (TLC)
Time frame: Minimum 2 years
Diffusion capacity of CO (DLCO) Test
Time frame: Minimum 2 years
Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2)
Time frame: Minimum 2 years
Liver volume
Time frame: Minimum 2 years
Liver stiffness score
Time frame: Minimum 2 years
Spleen volume
Time frame: Minimum 2 years
Bone maturation for age (pediatric patients only)
Time frame: Minimum 2 years
Age appropriate Z-score deviation for height and weight (children only)
Time frame: Minimum 2 years
Body mass index (BMI) for adults only
Time frame: Minimum 2 years
Optimization and validation of ASMD disease severity scoring system (DS3)
Time frame: Up to 2 years
Validation of ASMD PRO instruments (24h and 7-day recall)
Time frame: UP to 2 years
Niemann-Pick B Health Assessment Questionnaire
Time frame: UP to 2 years
Health-related Productivity Questionnaire
Time frame: UP to 2 years
Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
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