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

NCT03566745 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 14

Last updated 2018-06-25

No results posted yet for this study

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

Conditions

  • Mutation, Point

Interventions

DIAGNOSTIC_TEST

Blood for protein activity

Blood for protein activity

Sponsors & Collaborators

  • Hillel Yaffe Medical Center

    lead OTHER_GOV

Principal Investigators

  • Muhammad Mahajnah, MD PhD · Hillel Yaffe mediacl center

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2018-07-01
Primary Completion
2019-06-30
Completion
2019-11-30

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03566745 on ClinicalTrials.gov