A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

August 15, 2023 updated by: Sanofi

A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

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

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

Estimated average of study duration (for each patient) is 2 years

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
84

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Argentina
      • Caba, Argentina, 1425
        • Investigational Site Number :0320002
      • Córdoba, Argentina, X5004FHP
        • Investigational Site Number :0320001
  • Belgium
      • Leuven, Belgium, 3000
        • Investigational Site Number :0560001
  • Brazil
      • São Paulo, Brazil, 04020-041
        • Investigational Site Number :0760002
      • São Paulo, Brazil, 05403000
        • Investigational Site Number :0760006
    • Rio Grande Do Sul
      • Porto Alegre, Rio Grande Do Sul, Brazil, 90035-003
        • Investigational Site Number :0760001
  • Chile
      • Santiago, Chile, 753-0234
        • Investigational Site Number :152001
      • Santiago, Chile, 8330077
        • Investigational Site Number :152002
  • Czechia
      • Praha 2, Czechia, 12808
        • Investigational Site Number :2030001
  • France
      • ANGERS Cedex 01, France, 49033
        • Investigational Site Number :2500002
      • Paris, France, 75015
        • Investigational Site Number :2500003
      • Paris, France
        • Investigational Site Number :2500001
  • Germany
      • Gießen, Germany, 35392
        • Investigational Site Number :2760002
      • Mainz, Germany, 65239
        • Investigational Site Number :2760005
  • Italy
      • Napoli, Italy, 80131
        • Investigational Site Number :380002
      • Udine, Italy, 33100
        • Investigational Site Number :380001
  • Portugal
      • Porto, Portugal, 4200-319
        • Investigational Site Number :6200002
      • Porto, Portugal, 4050-371
        • Investigational Site Number :6200001
  • Romania
      • Timisoara, Romania, 300011
        • Investigational Site Number :6420001
  • Spain
      • Barcelona, Spain
        • Investigational Site Number :7240005
      • Madrid, Spain, 28046
        • Investigational Site Number :7240001
      • Sevilla, Spain, 41013
        • Investigational Site Number :7240004
  • Turkey
      • Adana, Turkey, 01330
        • Investigational Site Number :7920005
      • Istanbul, Turkey, 34093
        • Investigational Site Number :7920003
      • Izmir, Turkey
        • Investigational Site Number :7920001
  • United States
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Investigational Site Number :8400002
    • New York
      • Bronx, New York, United States, 10467
        • Investigational Site Number :8400003
      • Valhalla, New York, United States, 10595
        • Investigational Site Number :8400001

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Other: Acid Sphingomyelinase Deficiency (ASMD) Cohort
Patients across the full spectrum of chronic ASMD who have fulfilled the eligibility criteria and who have performed the inclusion visit
Procedure: Investigational Procedures
The investigational assessments will be performed

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD
Time Frame: Minimum 2 years
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
Minimum 2 years
Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion
Time Frame: 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)
Up to 2 years
Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion
Time Frame: 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)
Up to 2 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Number of patients with at least one abnormal value in laboratory parameters
Time Frame: Minimum 2 years
Minimum 2 years
Forced vital capacity (FVC) level over time since the time of diagnosis
Time Frame: Minimum 2 years
Minimum 2 years
Forced expiratory volume in the first second of the maneuver (FEV1)
Time Frame: Minimum 2 years
Minimum 2 years
Total lung capacity (TLC)
Time Frame: Minimum 2 years
Minimum 2 years
Diffusion capacity of CO (DLCO) Test
Time Frame: Minimum 2 years
Minimum 2 years
Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2)
Time Frame: Minimum 2 years
Minimum 2 years
Liver volume
Time Frame: Minimum 2 years
Minimum 2 years
Liver stiffness score
Time Frame: Minimum 2 years
Minimum 2 years
Spleen volume
Time Frame: Minimum 2 years
Minimum 2 years
Bone maturation for age (pediatric patients only)
Time Frame: Minimum 2 years
Minimum 2 years
Age appropriate Z-score deviation for height and weight (children only)
Time Frame: Minimum 2 years
Minimum 2 years
Body mass index (BMI) for adults only
Time Frame: Minimum 2 years
Minimum 2 years
Optimization and validation of ASMD disease severity scoring system (DS3)
Time Frame: Up to 2 years
Up to 2 years
Validation of ASMD PRO instruments (24h and 7-day recall)
Time Frame: UP to 2 years
UP to 2 years
Niemann-Pick B Health Assessment Questionnaire
Time Frame: UP to 2 years
UP to 2 years
Health-related Productivity Questionnaire
Time Frame: UP to 2 years
UP to 2 years
Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years
Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype
Time Frame: Minimum 2 years
Minimum 2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Sanofi

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Clinical Sciences & Operations, Sanofi

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
September 27, 2019

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
May 15, 2023

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
May 15, 2023

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
September 4, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 24, 2019

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
September 27, 2019

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
August 16, 2023

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
August 15, 2023

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
August 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • PIR16183

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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