A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
- Conditions
- Sphingomyelin Lipidosis
- Registration Number
- NCT04106544
- Lead Sponsor
- Sanofi
- Brief Summary
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
- Detailed Description
Estimated average of study duration (for each patient) is 2 years
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 84
Not provided
Not provided
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD Minimum 2 years Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion Up to 2 years 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)
Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time Minimum 2 years Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion Up to 2 years 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)
- Secondary Outcome Measures
Name Time Method Liver stiffness score Minimum 2 years Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2) Minimum 2 years Number of patients with at least one abnormal value in laboratory parameters Minimum 2 years Spleen volume Minimum 2 years Optimization and validation of ASMD disease severity scoring system (DS3) Up to 2 years Bone maturation for age (pediatric patients only) Minimum 2 years Body mass index (BMI) for adults only Minimum 2 years Validation of ASMD PRO instruments (24h and 7-day recall) UP to 2 years Health-related Productivity Questionnaire UP to 2 years Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Niemann-Pick B Health Assessment Questionnaire UP to 2 years Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Liver volume Minimum 2 years Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Forced expiratory volume in the first second of the maneuver (FEV1) Minimum 2 years Forced vital capacity (FVC) level over time since the time of diagnosis Minimum 2 years Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype Minimum 2 years Total lung capacity (TLC) Minimum 2 years Diffusion capacity of CO (DLCO) Test Minimum 2 years Age appropriate Z-score deviation for height and weight (children only) Minimum 2 years
Trial Locations
- Locations (28)
Investigational Site Number :8400002
🇺🇸Atlanta, Georgia, United States
Investigational Site Number :8400003
🇺🇸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
Scroll for more (18 remaining)Investigational Site Number :8400002🇺🇸Atlanta, Georgia, United States