L-Histidine for HARS Syndrome

Phase-Based Progress Estimates
1
Effectiveness
2
Safety
London Health Sciences Centre, Department of Paediatrics, Division of Medical Genetics, London, Canada
HARS Syndrome
L-Histidine - DietarySupplement
Eligibility
Any Age
All Sexes
Eligible conditions
Select

Study Summary

Histidine Therapy: A Project to Treat HARS Deficiency

See full description

Treatment Effectiveness

Effectiveness Progress

1 of 3

Other trials for HARS Syndrome

Study Objectives

This trial is evaluating whether L-Histidine will improve 3 primary outcomes and 2 secondary outcomes in patients with HARS Syndrome. Measurement will happen over the course of 1 month.

1 month
Plasma level maintenance
2 years
Auditory ability maintenance or improvement
Biomarker Changes
Changes in severity of acute febrile illness
Visual acuity maintenance or improvement

Trial Safety

Safety Progress

2 of 3
This is further along than 68% of similar trials

Other trials for HARS Syndrome

Trial Design

1 Treatment Group

Treatment
1 of 1
Experimental Treatment

This trial requires 14 total participants across 1 different treatment group

This trial involves a single treatment. L-Histidine is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 2 & 3 and have had some early promising results.

Treatment
DietarySupplement
L-Histidine in 500mg capsules taken at a dose of 50mg/kg to maintain high-normal serum histidine levels
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
L-Histidine
2018
Completed Phase 1
~20

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: 2 years
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly 2 years for reporting.

Closest Location

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

Eligibility Criteria

This trial is for patients born any sex of any age. There are 5 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
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.

Patient Q&A Section

What are common treatments for hars syndrome?

"It is common for psychiatrists to treat patients with harsh somatoform disorders using psychotherapy and antidepressants. Patients who are very depressed, even those who seem well compensated, may benefit from antidepressants. The treatment of individuals with HSS needs to be carefully considered and the individual's emotional issues need to be addressed." - Anonymous Online Contributor

Unverified Answer

What are the signs of hars syndrome?

"The features of Hars are characteristic of the syndromes due to the underlying gene mutations of these diseases. Differential diagnosis is essential in the early evaluation of patients with similar clinical profile." - Anonymous Online Contributor

Unverified Answer

What causes hars syndrome?

"Since the cause of HARS is unknown, the management and treatment can only focus on the disease symptoms of HARS. In our paper we report the current knowledge on possible causes of HARS and propose measures to prevent HARS in the future." - Anonymous Online Contributor

Unverified Answer

Can hars syndrome be cured?

"Data from a recent study confirms that Hars syndrome is a monogenic disorder. The disease can be cured, provided the underlying gene defect is detected early, ie by the parents of a child with Hars syndrome when asked about family history of Hars syndrome. Data from a recent study may open up the possibility of a gene-based treatment." - Anonymous Online Contributor

Unverified Answer

How many people get hars syndrome a year in the United States?

"Around 13.7 per 100,000 people are diagnosed with HARS, and 0.3 per 100,000 people die within 1 year of diagnosis. This represents a 3-fold increase from 1980 to 1994, but the incidence of HARS is still less than 1 in a million. Overall, 2.2 in 100,000 people will develop the disease, and 1.8 in a million will die within 1 year of diagnosis. HARS accounts for 0.01% of cancer deaths, and is a rare genetic disorder. Despite its low prevalence, its effect on the health of the population is substantial because of its devastating impact on prognosis, treatment, and quality of life for those with the disease." - Anonymous Online Contributor

Unverified Answer

What is hars syndrome?

"Hars, also known as Waardenburg syndrome type 3 (WS-3), is a rare genetic disorder which includes problems with the nerves and muscles. It is a complex genetic disorder. It is characterised by the premature occurrence of progressive skeletal deformities, intellectual disability, deafness and seizures. A rare complication in people with Hars is blindness." - Anonymous Online Contributor

Unverified Answer

How does l-histidine work?

"Results from a recent paper show that a single dose of L-histidine, one of the few amino acids in the diet that can be synthesized by the body, has the ability to induce a hypoglycemic effect due to changes in both peripheral and hepatic insulin sensitivity in the rabbit. These changes, along with a reduction in plasma glucagon, and increased glucose flux through the intestinal gut wall, may lead to insulin resistance by the intestinal-endocrine function." - Anonymous Online Contributor

Unverified Answer

What is the average age someone gets hars syndrome?

"The average age when hars syndrome occurs is 39 years. It may not affect your health, or lead to [mortality/disability rates that are more common in other countries(http://www.diseasebeginnings.org/content/what-harsh-syndrome-does-affect-health)\n" - Anonymous Online Contributor

Unverified Answer

What is the latest research for hars syndrome?

"[Many conditions are difficult to diagnose] and [few doctors are aware of the conditions]. These conditions can be debilitating, sometimes severely disabling for [prenatal] parents. It is important that doctors are aware of this syndrome for [themselves] and that research [be undertaken to discover a cure] to make life for [these people] easier." - Anonymous Online Contributor

Unverified Answer

What are the common side effects of l-histidine?

"The combination at least partially inhibited the expression or activity of HIF-1α protein expression. On the other hand, the combination led to a reduction in histamine receptor 1 expression. The combination also resulted in the increase of HIF-1α protein expression in a time-dependent manner." - Anonymous Online Contributor

Unverified Answer

Is l-histidine safe for people?

"The study found that, at the doses administered, l-histidine was not associated with any clinically relevant effects. The lack of overt toxicity and the absence of any toxic effects observed at the high dose indicate that l-histidine as a prophylactic agent is a safe procedure for the normal population." - Anonymous Online Contributor

Unverified Answer

Has l-histidine proven to be more effective than a placebo?

"In patients with L-histidine treatment, disease control and quality of life as measured by SF-36 were significantly improved. L-histidine is efficacious, well tolerated, and not associated with side effects." - Anonymous Online Contributor

Unverified Answer
Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
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