SNPMiner Trials (Home Page)
Report for Mutation L304P
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 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
NCT04106544 Sphingomyelin Lipidosis Procedure: Investigational Procedures MeSH:Niemann-Pick Disease, Type A Niemann-Pick Diseases Niemann-Pick Disease, Type C Lipidoses
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. --- R498L --- --- L304P ---
Primary Outcomes
Measure: Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD Time: Minimum 2 yearsMeasure: Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time Time: Minimum 2 years
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)
Measure: Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion Time: Up to 2 yearsDescription: 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)
Measure: Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion Time: Up to 2 yearsSecondary Outcomes
Measure: Number of patients with at least one abnormal value in laboratory parameters Time: Minimum 2 yearsMeasure: Forced vital capacity (FVC) level over time since the time of diagnosis Time: Minimum 2 years
Measure: Forced expiratory volume in the first second of the maneuver (FEV1) Time: Minimum 2 years
Measure: Total lung capacity (TLC) Time: Minimum 2 years
Measure: Diffusion capacity of CO (DLCO) Test Time: Minimum 2 years
Measure: Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2) Time: Minimum 2 years
Measure: Liver volume Time: Minimum 2 years
Measure: Liver stiffness score Time: Minimum 2 years
Measure: Spleen volume Time: Minimum 2 years
Measure: Bone maturation for age (pediatric patients only) Time: Minimum 2 years
Measure: Age appropriate Z-score deviation for height and weight (children only) Time: Minimum 2 years
Measure: Body mass index (BMI) for adults only Time: Minimum 2 years
Measure: Optimization and validation of ASMD disease severity scoring system (DS3) Time: Up to 2 years
Measure: Validation of ASMD PRO instruments (24h and 7-day recall) Time: UP to 2 years
Measure: Niemann-Pick B Health Assessment Questionnaire Time: UP to 2 years
Measure: Health-related Productivity Questionnaire Time: UP to 2 years
Measure: Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years
Measure: Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype Time: Minimum 2 years