A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
- Conditions
- Sphingomyelin Lipidosis
- Interventions
- Procedure: Investigational Procedures
- 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
- Arm && Interventions
Group Intervention Description Acid Sphingomyelinase Deficiency (ASMD) Cohort Investigational Procedures Patients across the full spectrum of chronic ASMD who have fulfilled the eligibility criteria and who have performed the inclusion visit
- 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 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 Liver stiffness score Minimum 2 years Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype 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 Total lung capacity (TLC) Minimum 2 years Diffusion capacity of CO (DLCO) Test 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 Age appropriate Z-score deviation for height and weight (children 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
Trial Locations
- Locations (28)
Investigational Site Number :0760001
🇧🇷Porto Alegre, Rio Grande Do Sul, Brazil
Investigational Site Number :0320002
🇦🇷Caba, Argentina
Investigational Site Number :7920001
🇹🇷Izmir, Turkey
Investigational Site Number :2500003
🇫🇷Paris, France
Investigational Site Number :2030001
🇨🇿Praha 2, Czechia
Investigational Site Number :0760002
🇧🇷São Paulo, Brazil
Investigational Site Number :7240005
🇪🇸Barcelona, Spain
Investigational Site Number :152002
🇨🇱Santiago, Chile
Investigational Site Number :380002
🇮🇹Napoli, Italy
Investigational Site Number :380001
🇮🇹Udine, Italy
Investigational Site Number :2500001
🇫🇷Paris, France
Investigational Site Number :7920005
🇹🇷Adana, Turkey
Investigational Site Number :7920003
🇹🇷Istanbul, Turkey
Investigational Site Number :7240001
🇪🇸Madrid, Spain
Investigational Site Number :2760005
🇩🇪Mainz, Germany
Investigational Site Number :7240004
🇪🇸Sevilla, Spain
Investigational Site Number :2760002
🇩🇪Gießen, Germany
Investigational Site Number :0560001
🇧🇪Leuven, Belgium
Investigational Site Number :0320001
🇦🇷Córdoba, Argentina
Investigational Site Number :0760006
🇧🇷São Paulo, Brazil
Investigational Site Number :2500002
🇫🇷ANGERS Cedex 01, France
Investigational Site Number :6200001
🇵🇹Porto, Portugal
Investigational Site Number :6420001
🇷🇴Timisoara, Romania
Investigational Site Number :152001
🇨🇱Santiago, Chile
Investigational Site Number :6200002
🇵🇹Porto, Portugal
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