NCT03566745

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

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
14

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jul 2018

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

June 12, 2018

Completed
13 days until next milestone

First Posted

Study publicly available on registry

June 25, 2018

Completed
6 days until next milestone

Study Start

First participant enrolled

July 1, 2018

Completed
12 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2019

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

November 30, 2019

Completed
Last Updated

June 25, 2018

Status Verified

June 1, 2018

Enrollment Period

12 months

First QC Date

June 12, 2018

Last Update Submit

June 12, 2018

Conditions

Mutation, Point

Outcome Measures

Primary Outcomes (1)

  • Low protein activity

    Low protein activity

    1 year

Study Arms (2)

Study group

Patients with mutation in AhR gene - presumed low Blood for protein activity

Diagnostic Test: Blood for protein activity

Control

Patients without mutation in AhR gene - presumed normal Blood for protein activity

Diagnostic Test: Blood for protein activity

Interventions

Blood for protein activityDIAGNOSTIC_TEST

Blood for protein activity

ControlStudy group

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Everyone

You may qualify if:

  • patients with mutation in AhR gene

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (1)

  • Juricek L, Carcaud J, Pelhaitre A, Riday TT, Chevallier A, Lanzini J, Auzeil N, Laprevote O, Dumont F, Jacques S, Letourneur F, Massaad C, Agulhon C, Barouki R, Beraneck M, Coumoul X. AhR-deficiency as a cause of demyelinating disease and inflammation. Sci Rep. 2017 Aug 29;7(1):9794. doi: 10.1038/s41598-017-09621-3.

    PMID: 28851966BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood for protein activities

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Muhammad Mahajnah, MD PhD

    Hillel Yaffe mediacl center

    STUDY CHAIR

Central Study Contacts

Muhammad Mahajnah, MD PhD

CONTACT

+972506246959mohamedm@hy.health.gov.il

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER GOV
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Head, Institute of pediatric neurology

Study Record Dates

First Submitted

June 12, 2018

First Posted

June 25, 2018

Study Start

July 1, 2018

Primary Completion

June 30, 2019

Study Completion

November 30, 2019

Last Updated

June 25, 2018

Record last verified: 2018-06

Data Sharing

IPD Sharing
Will not share