SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02924935

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Histidine Therapy: A Project to Treat HARS Deficiency

This study evaluates the role of histidine in patients with HARS Syndrome. Children with HARS Syndrome will receive oral nutritional supplementation with histidine at a dose which will be increased in the event of acute febrile illness. Vision, hearing and plasma biomarkers will be monitored throughout the study period.

NCT02924935 HARS Syndrome

1 Interventions

Name: L-Histidine

Description: L-Histidine in 500mg capsules taken at a dose of 50mg/kg to maintain high-normal serum histidine levels

Type: Dietary Supplement

Treatment


Primary Outcomes

Description: Changes from baseline eye exam

Measure: Visual acuity maintenance or improvement

Time: 2 years

Description: Changes from baseline electroretinography

Measure: Visual acuity maintenance or improvement

Time: 2 years

Description: Changes from baseline ocular coherence tomography

Measure: Visual acuity maintenance or improvement

Time: 2 years

Description: Changes from baseline auditory brainstem response

Measure: Auditory ability maintenance or improvement

Time: 2 years

Description: Changes from baseline autoacoustic emissions

Measure: Auditory ability maintenance or improvement

Time: 2 years

Description: Changes from baseline routine ear exam

Measure: Auditory ability maintenance or improvement

Time: 2 years

Description: Changes from baseline audiometry

Measure: Auditory ability maintenance or improvement

Time: 2 years

Description: Measured by length of hospital stay

Measure: Changes in severity of acute febrile illness

Time: 2 years

Description: Measured by requirement for intensive care unit transfer

Measure: Changes in severity of acute febrile illness

Time: 2 years

Description: Measured by number of hospitalizations

Measure: Changes in severity of acute febrile illness

Time: 2 years

Secondary Outcomes

Description: Changes to inflammatory markers, HARS protein, HARS antibodies, Amino acid levels and biochemical markers as a result of histidine therapy

Measure: Biomarker Changes

Time: 2 years

Description: Does histidine supplementation result in increased plasma histidine levels

Measure: Plasma level maintenance

Time: 1 month

Purpose: Treatment

Single Group Assignment


There is one SNP

SNPs


1 Y454S

Inclusion Criteria: 1. Have molecularly confirmed HARS syndrome (Y454S homozygous). --- Y454S ---



HPO Nodes