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
* 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
Brief Title
A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Detailed Description
Estimated average of study duration (for each patient) is 2 years
Categories
Completion Date
Completion Date Type
Actual
Conditions
Sphingomyelin Lipidosis
Eligibility Criteria
Inclusion criteria :
* Patients with confirmed diagnosis of chronic forms of ASMD based on 1) a clinical diagnosis consistent with chronic visceral ASMD (ie, NPD B) or chronic neurovisceral ASMD (ie, NPD B variant or intermediate NPD A/B) and 2) deficient enzymatic activity (as measured in peripheral leukocytes, cultured fibroblasts, lymphocytes, or DBS) or presence of 2 pathogenic SMPD1 mutations,
* The patient (or patient's legal guardian) must provide signed informed consent.
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.
The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
* Patients with confirmed diagnosis of chronic forms of ASMD based on 1) a clinical diagnosis consistent with chronic visceral ASMD (ie, NPD B) or chronic neurovisceral ASMD (ie, NPD B variant or intermediate NPD A/B) and 2) deficient enzymatic activity (as measured in peripheral leukocytes, cultured fibroblasts, lymphocytes, or DBS) or presence of 2 pathogenic SMPD1 mutations,
* The patient (or patient's legal guardian) must provide signed informed consent.
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.
The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
Inclusion Criteria
Inclusion criteria :
* Patients with confirmed diagnosis of chronic forms of ASMD based on 1) a clinical diagnosis consistent with chronic visceral ASMD (ie, NPD B) or chronic neurovisceral ASMD (ie, NPD B variant or intermediate NPD A/B) and 2) deficient enzymatic activity (as measured in peripheral leukocytes, cultured fibroblasts, lymphocytes, or DBS) or presence of 2 pathogenic SMPD1 mutations,
* The patient (or patient's legal guardian) must provide signed informed consent.
* Patients with confirmed diagnosis of chronic forms of ASMD based on 1) a clinical diagnosis consistent with chronic visceral ASMD (ie, NPD B) or chronic neurovisceral ASMD (ie, NPD B variant or intermediate NPD A/B) and 2) deficient enzymatic activity (as measured in peripheral leukocytes, cultured fibroblasts, lymphocytes, or DBS) or presence of 2 pathogenic SMPD1 mutations,
* The patient (or patient's legal guardian) must provide signed informed consent.
Gender
All
Gender Based
false
Healthy Volunteers
No
Last Update Post Date
Last Update Post Date Type
Actual
Last Update Submit Date
NCT Id
NCT04106544
Org Class
Industry
Org Full Name
Sanofi
Org Study Id
PIR16183
Overall Status
Completed
Phases
Not Applicable
Primary Completion Date
Primary Completion Date Type
Actual
Official Title
A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Primary Outcomes
Outcome Measure
Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD
Outcome Time Frame
Minimum 2 years
Outcome Measure
Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time
Outcome Time Frame
Minimum 2 years
Outcome 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)
Outcome Measure
Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion
Outcome Time Frame
Up to 2 years
Outcome 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)
Outcome Measure
Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion
Outcome Time Frame
Up to 2 years
Secondary Outcomes
Outcome Time Frame
Minimum 2 years
Outcome Measure
Number of patients with at least one abnormal value in laboratory parameters
Outcome Time Frame
Minimum 2 years
Outcome Measure
Forced vital capacity (FVC) level over time since the time of diagnosis
Outcome Time Frame
Minimum 2 years
Outcome Measure
Forced expiratory volume in the first second of the maneuver (FEV1)
Outcome Time Frame
Minimum 2 years
Outcome Measure
Total lung capacity (TLC)
Outcome Time Frame
Minimum 2 years
Outcome Measure
Diffusion capacity of CO (DLCO) Test
Outcome Time Frame
Minimum 2 years
Outcome Measure
Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2)
Outcome Time Frame
Minimum 2 years
Outcome Measure
Liver volume
Outcome Time Frame
Minimum 2 years
Outcome Measure
Liver stiffness score
Outcome Time Frame
Minimum 2 years
Outcome Measure
Spleen volume
Outcome Time Frame
Minimum 2 years
Outcome Measure
Bone maturation for age (pediatric patients only)
Outcome Time Frame
Minimum 2 years
Outcome Measure
Age appropriate Z-score deviation for height and weight (children only)
Outcome Time Frame
Minimum 2 years
Outcome Measure
Body mass index (BMI) for adults only
Outcome Time Frame
Up to 2 years
Outcome Measure
Optimization and validation of ASMD disease severity scoring system (DS3)
Outcome Time Frame
UP to 2 years
Outcome Measure
Validation of ASMD PRO instruments (24h and 7-day recall)
Outcome Time Frame
UP to 2 years
Outcome Measure
Niemann-Pick B Health Assessment Questionnaire
Outcome Time Frame
UP to 2 years
Outcome Measure
Health-related Productivity Questionnaire
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype
Outcome Time Frame
Minimum 2 years
Outcome Measure
Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype
Start Date
Start Date Type
Actual
Status Verified Date
First Post Date
First Post Date Type
Actual
First Submit Date
First Submit QC Date
Std Ages
Child
Adult
Older Adult
Maximum Age Number (converted to Years and rounded down)
999
Minimum Age Number (converted to Years and rounded down)
0
Investigators
Investigator Type
Principal Investigator
Investigator Name
Melissa Wasserstein
Investigator Email
melissa.wasserstein@einsteinmed.org
Investigator Phone