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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation Y454S

Developed by Shray Alag, 2020-2021.
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
Conditions
  1. HARS Syndrome
Interventions
  1. 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