SNPMiner Trials by Shray Alag


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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 years

Measure: 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 years

Description: 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 years

Secondary Outcomes

Measure: Number of patients with at least one abnormal value in laboratory parameters

Time: Minimum 2 years

Measure: 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


HPO Nodes