Skip to main content
OpenTrials
Completed

NCT Number: NCT04106544

A Prospective and Retrospective Cohort Study in 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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Sphingomyelin Lipidosis Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann-Pick Disease, Type A Niemann-Pick Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Investigational Site Number :0320002, CABA, Argentina

Loading trial locations.

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Investigational Procedures

Procedure

The investigational assessments will be performed

Primary outcomes

  1. Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD

    Time frame: Minimum 2 years

  2. 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

  3. 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)

  4. 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)

Secondary outcomes

  1. Number of patients with at least one abnormal value in laboratory parameters

    Time frame: Minimum 2 years

  2. Forced vital capacity (FVC) level over time since the time of diagnosis

    Time frame: Minimum 2 years

  3. Forced expiratory volume in the first second of the maneuver (FEV1)

    Time frame: Minimum 2 years

  4. Total lung capacity (TLC)

    Time frame: Minimum 2 years

  5. Diffusion capacity of CO (DLCO) Test

    Time frame: Minimum 2 years

  6. Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2)

    Time frame: Minimum 2 years

  7. Liver volume

    Time frame: Minimum 2 years

  8. Liver stiffness score

    Time frame: Minimum 2 years

  9. Spleen volume

    Time frame: Minimum 2 years

  10. Bone maturation for age (pediatric patients only)

    Time frame: Minimum 2 years

  11. Age appropriate Z-score deviation for height and weight (children only)

    Time frame: Minimum 2 years

  12. Body mass index (BMI) for adults only

    Time frame: Minimum 2 years

  13. Optimization and validation of ASMD disease severity scoring system (DS3)

    Time frame: Up to 2 years

  14. Validation of ASMD PRO instruments (24h and 7-day recall)

    Time frame: UP to 2 years

  15. Niemann-Pick B Health Assessment Questionnaire

    Time frame: UP to 2 years

  16. Health-related Productivity Questionnaire

    Time frame: UP to 2 years

  17. Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  18. Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  19. Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  20. Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  21. Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  22. Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  23. Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  24. Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

  25. Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype

    Time frame: Minimum 2 years

Sponsors and collaborators

Lead sponsor

Sanofi

Industry

Registry information

Official study title

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

Important dates

Study start
2019
Primary completion
2023
Study completion
2023
First posted
Sep 27, 2019
Registry last updated
Aug 16, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.