A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Sanofi
- 入组人数
- 84
- 试验地点
- 28
- 主要终点
- Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time
研究概览
简要总结
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
详细描述
Estimated average of study duration (for each patient) is 2 years
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
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
干预措施: Investigational Procedures (Procedure)
结局指标
主要结局
Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time
时间窗: Minimum 2 years
Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD
时间窗: Minimum 2 years
Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion
时间窗: 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
时间窗: 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)
次要结局
- Forced vital capacity (FVC) level over time since the time of diagnosis(Minimum 2 years)
- Liver stiffness score(Minimum 2 years)
- Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype(Minimum 2 years)
- 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)
- Association of splenomegaly 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)