Sphingomyelin LipidosisNCT04106544
A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
A study testing Investigational Procedures in people with Sphingomyelin Lipidosis, run by Sanofi at 28 sites in 13 countries.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Sphingomyelin Lipidosis
- What is being tested?
- Investigational Procedures
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 84 participants
- Where
- 28 sitesin 13 countries
- Study dates
- 27 Sep 2019to 15 May 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- Patients suspected or diagnosed with infantile onset ASMD (ie, NPD A, with progressive developmental delay, or presence of any combination of R498L, L304P, and P333fs52 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.
Trial locations and contacts
28 sites in 13 countries.
28 sites in 13 countries
United States3 sites
Investigational Site Number :8400002
Atlanta, Georgia, 30322
Investigational Site Number :8400003
The Bronx, New York, 10467
Investigational Site Number :8400001
Valhalla, New York, 10595
Brazil3 sites
Investigational Site Number :0760001
Porto Alegre, Rio Grande do Sul, 90035-003
Investigational Site Number :0760002
São Paulo, 04020-041
Investigational Site Number :0760006
São Paulo, 05403000
France3 sites
Investigational Site Number :2500002
Angers, 49033
Investigational Site Number :2500003
Paris, 75015
Investigational Site Number :2500001
Paris
Spain3 sites
Investigational Site Number :7240005
Barcelona
Investigational Site Number :7240001
Madrid, 28046
Investigational Site Number :7240004
Seville, 41013
Turkey (Türkiye)3 sites
Investigational Site Number :7920005
Adana, 01330
Investigational Site Number :7920003
Istanbul, 34093
Investigational Site Number :7920001
Izmir
Argentina2 sites
Investigational Site Number :0320002
CABA, 1425
Investigational Site Number :0320001
Córdoba, X5004FHP
Chile2 sites
Investigational Site Number :152001
Santiago, 753-0234
Investigational Site Number :152002
Santiago, 8330077
Germany2 sites
Investigational Site Number :2760002
Giessen, 35392
Investigational Site Number :2760005
Mainz, 65239
Italy2 sites
Investigational Site Number :380002
Naples, 80131
Investigational Site Number :380001
Udine, 33100
Portugal2 sites
Investigational Site Number :6200001
Porto, 4050-371
Investigational Site Number :6200002
Porto, 4200-319
About this study
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 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
Read more
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
Read the detailed description
Estimated average of study duration (for each patient) is 2 years
- Conditions
- Sphingomyelin Lipidosis
- Being tested
- Investigational Procedures
- Medical subject headings
- Niemann-Pick Disease, Type A
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Investigational ProceduresProcedure or surgery
The investigational assessments will be performed
| Study group | Role | What they receive |
|---|---|---|
| Acid Sphingomyelinase Deficiency (ASMD) Cohort | Other | Patients across the full spectrum of chronic ASMD who have fulfilled the eligibility criteria and who have performed the inclusion visit Receives: Procedure: Investigational Procedures |
What is being measured
The primary outcome is the main question the study is designed to answer.
Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD
Measured: Minimum 2 years
Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time
Measured: Minimum 2 years
Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion
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)
Measured: Up to 2 years
Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion
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)
Measured: Up to 2 years
Secondary outcomes (25)
Number of patients with at least one abnormal value in laboratory parameters
Measured: Minimum 2 years
Forced vital capacity (FVC) level over time since the time of diagnosis
Measured: Minimum 2 years
Forced expiratory volume in the first second of the maneuver (FEV1)
Measured: Minimum 2 years
Total lung capacity (TLC)
Measured: Minimum 2 years
Diffusion capacity of CO (DLCO) Test
Measured: Minimum 2 years
Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2)
Measured: Minimum 2 years
Liver volume
Measured: Minimum 2 years
Liver stiffness score
Measured: Minimum 2 years
Spleen volume
Measured: Minimum 2 years
Bone maturation for age (pediatric patients only)
Measured: Minimum 2 years
Age appropriate Z-score deviation for height and weight (children only)
Measured: Minimum 2 years
Body mass index (BMI) for adults only
Measured: Minimum 2 years
Optimization and validation of ASMD disease severity scoring system (DS3)
Measured: Up to 2 years
Validation of ASMD PRO instruments (24h and 7-day recall)
Measured: UP to 2 years
Niemann-Pick B Health Assessment Questionnaire
Measured: UP to 2 years
Health-related Productivity Questionnaire
Measured: UP to 2 years
Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype
Measured: Minimum 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Sep 2019
- Study start27 Sep 2019
- Primary completion15 May 2023
- Study completion15 May 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sphingomyelin LipidosisStudies of the same condition, open and under way.
- More trials run by SanofiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 84 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanofi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences & Operations, Study director, Sanofi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04106544
- Sponsor's protocol ID
- PIR16183
- Status last verified
- Aug 2023
- First submitted
- 4 Sep 2019
- Last updated
- 16 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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
Study at a glance
From the registry record, last updated by the sponsor on 16 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
- ClinicalTrials.gov ID
- NCT04106544
- Acronym / sponsor ID
- PIR16183
- Conditions
- Sphingomyelin Lipidosis
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 84 participants (actual)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- 27 Sep 2019 (actual)
- Primary completion
- 15 May 2023 (actual)
- Study completion
- 15 May 2023 (actual)
- First posted
- 27 Sep 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Acid Sphingomyelinase Deficiency (ASMD) Cohort | Other | Procedure: Investigational ProceduresPatients across the full spectrum of chronic ASMD who have fulfilled the eligibility criteria and who have performed the inclusion visit |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (5 listed)
- Patients suspected or diagnosed with infantile onset ASMD (ie, NPD A, with progressive developmental delay, or presence of any combination of R498L, L304P, and P333fs52 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Investigational ProceduresThe investigational assessments will be performed | Procedure or surgery | Acid Sphingomyelinase Deficiency (ASMD) Cohort |
Primary outcome
Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD
Time frame: 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
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)
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)
25 secondary outcomes
Number of patients with at least one abnormal value in laboratory parameters
Time frame: Minimum 2 years
Forced vital capacity (FVC) level over time since the time of diagnosis
Time frame: Minimum 2 years
Forced expiratory volume in the first second of the maneuver (FEV1)
Time frame: Minimum 2 years
Total lung capacity (TLC)
Time frame: Minimum 2 years
Diffusion capacity of CO (DLCO) Test
Time frame: Minimum 2 years
Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2)
Time frame: Minimum 2 years
Liver volume
Time frame: Minimum 2 years
Liver stiffness score
Time frame: Minimum 2 years
Spleen volume
Time frame: Minimum 2 years
Bone maturation for age (pediatric patients only)
Time frame: Minimum 2 years
Age appropriate Z-score deviation for height and weight (children only)
Time frame: Minimum 2 years
Body mass index (BMI) for adults only
Time frame: Minimum 2 years
Optimization and validation of ASMD disease severity scoring system (DS3)
Time frame: Up to 2 years
Validation of ASMD PRO instruments (24h and 7-day recall)
Time frame: UP to 2 years
Niemann-Pick B Health Assessment Questionnaire
Time frame: UP to 2 years
Health-related Productivity Questionnaire
Time frame: UP to 2 years
Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype
Time frame: Minimum 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Aug 2023.
- Individual participant dataSharing planned: Yes. 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
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Clinical Sciences & Operations study director
Sanofi
28 sites in 13 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Investigational Procedures in people with Sphingomyelin Lipidosis, run by Sanofi at 28 sites in 13 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 28 sites in United States, Brazil, France, Spain, Turkey (Türkiye) and 8 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD (time frame: Minimum 2 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Aug 2023.