SNPMiner Trials by Shray Alag


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Report for Mutation Y454S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 Dietary Supplement: L-Histidine

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

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


HPO Nodes