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Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease

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ClinicalTrials.gov Identifier: NCT03566745
Recruitment Status : Unknown
Verified June 2018 by Muhammad Mahajnah, Hillel Yaffe Medical Center.
Recruitment status was:  Not yet recruiting
First Posted : June 25, 2018
Last Update Posted : June 25, 2018
Sponsor:
Information provided by (Responsible Party):
Muhammad Mahajnah, Hillel Yaffe Medical Center

Study Description
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Brief Summary:
In a previous study, we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus (IIN) and foveal hypoplasia, which follow an autosomal recessive mode of inheritance of AhR gene. in this study we will determine whether the disease phenotype is the consequence of a decrease in or absence of AHR-induced AHH activity

Condition or disease Intervention/treatment
Mutation, Point Diagnostic Test: Blood for protein activity

Detailed Description:

In a previous study, we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus (IIN) and foveal hypoplasia, which follow an autosomal recessive mode of inheritance of AhR gene. in this study we will:

  1. To determine whether the disease phenotype is the consequence of a decrease in or absence of AHR-induced AHH activity. To this end, basal and ligand-mediated AHH enzyme activity will be compared in heterozygotic and homozygotic family members versus healthy volunteers.
  2. To examine steady state protein levels of the AHR protein in cells of homo- and heterozygotic patients versus those of healthy volunteers. If no mutant protein is detected, we will determine the effect of the mutation on mRNA stability.
  3. To analyze steady state levels of related partner proteins (such as ANRT) and proteins levels of transcriptional targets (AHH) in heterozygotic and homozygotic family members versus healthy volunteers.
  4. To investigate the ability of the mutant allele to induce transcriptional activation in an engineered yeast test system. We will use a yeast strain engineered to contain human AHR and AHR nuclear translocator together with a reporter gene to investigate whether the mutation interferes with transcription activation.
Study Design
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Study Type : Observational
Estimated Enrollment : 14 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease
Estimated Study Start Date : July 1, 2018
Estimated Primary Completion Date : June 30, 2019
Estimated Study Completion Date : November 30, 2019
Groups and Cohorts
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Group/Cohort Intervention/treatment
Study group
Patients with mutation in AhR gene - presumed low Blood for protein activity
 Diagnostic Test: Blood for protein activity
Blood for protein activity
Control
Patients without mutation in AhR gene - presumed normal Blood for protein activity
 Diagnostic Test: Blood for protein activity
Blood for protein activity


Outcome Measures
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Primary Outcome Measures :
  1. Low protein activity [ Time Frame: 1 year ]
    Low protein activity


Biospecimen Retention:   Samples Without DNA
Blood for protein activities

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Everyone
Criteria

Inclusion Criteria:

  • patients with mutation in AhR gene

Exclusion Criteria:

  • None
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03566745


Contacts
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Contact: Muhammad Mahajnah, MD PhD +972506246959 mohamedm@hy.health.gov.il

Sponsors and Collaborators
Hillel Yaffe Medical Center
Investigators
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Study Chair: Muhammad Mahajnah, MD PhD Hillel Yaffe mediacl center
More Information
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Publications:

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Responsible Party: Muhammad Mahajnah, Head, Institute of pediatric neurology, Hillel Yaffe Medical Center
ClinicalTrials.gov Identifier: NCT03566745    
Other Study ID Numbers: 0034-18-HYMC
First Posted: June 25, 2018    Key Record Dates
Last Update Posted: June 25, 2018
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No