There is one clinical trial.
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
Exclusion criteria: Patients suspected or diagnosed with infantile onset ASMD (ie, NPD A, with progressive developmental delay, or presence of any combination of R498L, L304P, and P333fs*52 genotypes, if available), - Patients having received or receiving an investigational drug, - Patients receiving any ASMD specific ERT, - Patients with poor general condition that would not be able to undergo study assessments as per investigator's clinical judgment. --- R498L --- --- L304P ---
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
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