Histidine Therapy: A Project to Treat HARS Deficiency

NCT02924935 | Unknown Phase 2 FDA Drug

• 1 other identifier: 108364
• Study Type: interventional
• Target: 14
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

HARS Syndrome

Outcome Measures

Primary Outcomes (10)

• Visual acuity maintenance or improvement

  Changes from baseline eye exam

  2 years

• Visual acuity maintenance or improvement

  Changes from baseline electroretinography

  2 years

• Visual acuity maintenance or improvement

  Changes from baseline ocular coherence tomography

  2 years

• Auditory ability maintenance or improvement

  Changes from baseline auditory brainstem response

  2 years

• Auditory ability maintenance or improvement

  Changes from baseline autoacoustic emissions

  2 years

• Auditory ability maintenance or improvement

  Changes from baseline routine ear exam

  2 years

• Auditory ability maintenance or improvement

  Changes from baseline audiometry

  2 years

• Changes in severity of acute febrile illness

  Measured by length of hospital stay

  2 years

• Changes in severity of acute febrile illness

  Measured by requirement for intensive care unit transfer

  2 years

• Changes in severity of acute febrile illness

  Measured by number of hospitalizations

  2 years

Secondary Outcomes (2)

• Biomarker Changes

  2 years

• Plasma level maintenance

  1 month

Study Arms (1)

Treatment

EXPERIMENTAL

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

Dietary Supplement: L-Histidine

Interventions

L-Histidine DIETARY_SUPPLEMENT

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

Treatment

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Have molecularly confirmed HARS syndrome (Y454S homozygous).
• Capable of giving informed consent or assent, or have an acceptable surrogate capable of giving consent on the participant's behalf.
• Participant or surrogate decision maker is able to understand the study procedures and comply with them throughout the course of the study.
• Able to take solid foods (ie applesauce) or swallow capsules (in younger children, capsule may be broken and contents mixed with applesauce).
• At least 1 year of age or greater than 8 kg in weight (since histidine is supplied as a minimal dose of 500 mg/capsule.

You may not qualify if:

• Unable or unwilling to give informed consent.
• Unable to understand instructions or unable to attend clinic visits.
• Children less than 1 year of age or less than \~8kg in weight (since histidine is supplied as 500 mg capsules).

Sponsors & Collaborators

• London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's: lead

Study Sites (1)

London Health Sciences Centre, Department of Paediatrics, Division of Medical Genetics

London, Ontario, N6A5W9, Canada

Location

MeSH Terms

Interventions

Histidine

Intervention Hierarchy (Ancestors)

Amino Acids, Cyclic; Amino Acids; Amino Acids, Peptides, and Proteins; Amino Acids, Essential

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Participants are given L-Histidine supplements and were prescribed to take 50mg/kg twice daily.

Study Record Dates

• First Submitted: September 16, 2016
• First Posted: October 5, 2016
• Study Start: August 1, 2018
• Primary Completion: October 31, 2021
• Study Completion: December 31, 2022
• Last Updated: June 10, 2022

Record last verified: 2022-06

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)