Histidine Therapy: A Project to Treat HARS Deficiency

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Clinical Phase

PHASE2/PHASE3

Total Enrollment

14 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-08-01

Study Completion Date

2022-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Pegzilarginase in Subjects <24 Months Old With Arginase 1 Deficiency

NCT06582524

Arginase 1 Deficiency

COMPLETED PHASE3

Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease

NCT00004314

Lesch-Nyhan Syndrome

COMPLETED PHASE2

Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I

NCT00912925

Mucopolysaccharidosis I Hurlers Syndrome Hurler-Scheie Syndrome

COMPLETED PHASE3

Neurophysiological and Acute Pharmacological Studies in FXS Patients

NCT02998151

Fragile X Syndrome

COMPLETED EARLY_PHASE1

A Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to Less Than 2 Years of Age With Dravet Syndrome

NCT06118255

Dravet Syndrome

ACTIVE_NOT_RECRUITING PHASE3

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

HARS syndrome is a progressive degenerative disease affecting eyesight and hearing caused by a mutation in the HARS gene which codes for an enzyme involved in protein synthesis. HARS syndrome has been exclusively found in the Old Order Amish communities in Southwestern Ontario and in Pennsylvania. Children with this disorder initially have normal vision and hearing, but with a febrile illness, can have a sudden loss of vision and hearing, as well as visual hallucinations. There is some evidence that vision loss progresses, albeit at a slower rate, even without a febrile incident. In more severe cases, fluid accumulates in the lungs (acute respiratory distress syndrome or ARDS) which can cause a drop in oxygen levels and sometimes death. There is currently no specific treatment for HARS syndrome, apart from supportive care. Anecdotal evidence of an adult with HARS syndrome who was treated with the amino acid L-histidine suggests that there was an improvement in vision, however there were no baseline objective measurements of vision prior to the use of histidine. We have designed a pilot project in which histidine will be given to children with HARS for 6 months. Investigators hypothesize that the histidine will be well tolerated and easily administered, without side effects. Investigators will monitor vision, hearing and bloodwork to determine if there is any change during the course of treatment. As well, investigators plan to administer increased doses of histidine during acute illnesses, hoping to prevent deterioration in breathing due to ARDS. The results of this initial pilot project may pave the way for a longer term study of the use of histidine.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

HARS Syndrome

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

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

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Treatment

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

Group Type EXPERIMENTAL

L-Histidine

Intervention Type DIETARY_SUPPLEMENT

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

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

L-Histidine

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

Intervention Type DIETARY_SUPPLEMENT

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1. Have molecularly confirmed HARS syndrome (Y454S homozygous).
2. Capable of giving informed consent or assent, or have an acceptable surrogate capable of giving consent on the participant's behalf.
3. Participant or surrogate decision maker is able to understand the study procedures and comply with them throughout the course of the study.
4. Able to take solid foods (ie applesauce) or swallow capsules (in younger children, capsule may be broken and contents mixed with applesauce).
5. 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.

Exclusion Criteria

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

Eligible Sex

ALL

Accepts Healthy Volunteers

No