Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine)

NCT03180190 | Unknown

• 1 other identifier: Hydroxychloroquine
• Study Type: observational
• Target: 50
• Locations: 0 countries
• Sites: N/A

Brief Summary

Hydroxychloroquine(HCQ)play major role in management of many rheumatic diseases. Retinal toxicity from HCQ is serious side effect because even after the drug drug is discontinued, there is little if any visual recovery. For this reason, regular screening for retinal toxicity is recommended to detect early retinopathy and discontinue the therapy. Cytochrome P450 (CYP) enzymes play major roles in drug metabolism. Certain single-nucleotide polymorphisms(SNPs) in CYP genes may have a large impact on CYP enzyme activity.Polymorphisms in the cytochrome P450 gene might influence blood concentration some patients have a genetic predisposition to HCQ toxicity (e.g.,from abnormalities in the ABCA4 gene)Which is not studied previously among Egyptian population

Conditions

Autoimmune Diseases

Outcome Measures

Primary Outcomes (1)

• HCQ toxicity in Egyptian patients

  Recognizing clinical and genetic factor(s) affecting the outcome of HCQ therapy in Egyptian patients population and /or predisposing to its toxicity.

  1 year

Secondary Outcomes (1)

• genetic variant

  1 year

Study Arms (2)

patients with ocular toxicity

Screening for ophthalmic exclusion criteria by slit lamp and fundus examination using both direct and indirect ophthalmoscope Screening for HCQ ocular toxicity by * Perimetry using Octopus perimeter and utilizing 24-2 test strategy, * Electroretinography (ERG) under scotopic and photopic conditions and Spectral domain optical coherence tomography (SD-OCT) genotyping using real time PCR (Taqman discrimination assay) for study frequency of single nucleotide polymorphisms (SNPs) of CYP2C19, CYP1A2, and ABCG2.

Drug: Hydroxychloroquine Oral Tablet

patients without ocular toxicity

Screening for ophthalmic exclusion criteria by slit lamp and fundus examination using both direct and indirect ophthalmoscope Screening for HCQ ocular toxicity by * Perimetry using Octopus perimeter and utilizing 24-2 test strategy, * Electroretinography (ERG) under scotopic and photopic conditions and Spectral domain optical coherence tomography (SD-OCT) genotyping using real time PCR (Taqman discrimination assay) for study frequency of single nucleotide polymorphisms (SNPs) of CYP2C19, CYP1A2, and ABCG2.

Drug: Hydroxychloroquine Oral Tablet

Interventions

Hydroxychloroquine Oral Tablet DRUG

slit lamp and fundus examination using both direct and indirect ophthalmoscope Screening for HCQ ocular toxicity by * Perimetry using Octopus perimeter and utilizing 24-2 test strategy, * Electroretinography (ERG) under scotopic and photopic conditions and Spectral domain optical coherence tomography (SD-OCT)

Also known as: diagnostic test

patients with ocular toxicity; patients without ocular toxicity

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

All patients receiving HCQ treatment

You may qualify if:

• All patients received HCQ treatment and attending the Rheumatology and Rehabilitation outpatient clinic and in-patient department, Faculty of Medicine, Assiut University Hospitals.

You may not qualify if:

• Patients less than 18 years old.
• Patients with co-morbidities (e.g., liver disease, serious infections, or cardiac, respiratory, gastrointestinal, endocrine disease) that could influence the disease activity and the liver condition.
• Patients with Renal failure (creatinine clearance \< 30 ml/ min).
• Patients with ophthalmic conditions that may give rise to abnormalities in the screening tests used to detect HCQ toxicity e.g. glaucoma, hereditary fundus dystrophies, dense media opacity precluding fundus visibility, optic neuritis and uveitis.
• Patients receiving tamoxifen or other retinal toxin drugs.

Sponsors & Collaborators

• Assiut University: lead

Biospecimen

Retention: SAMPLES WITHOUT DNA

5 ml of blood will be collected into tubes containing EDTA, and stored immediately at -80 for genomic DNA extraction and genotyping using real time PCR (Taqman discrimination assay) for study frequency of single nucleotide polymorphisms (SNPs)of CYP2C19, CYP1A2, and ABCG2.

MeSH Terms

Conditions

Autoimmune Diseases

Interventions

Hydroxychloroquine

Condition Hierarchy (Ancestors)

Immune System Diseases

Intervention Hierarchy (Ancestors)

Chloroquine; Aminoquinolines; Quinolines; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring; Heterocyclic Compounds

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: principle investigator

Study Record Dates

• First Submitted: June 6, 2017
• First Posted: June 8, 2017
• Study Start: June 28, 2017
• Primary Completion: June 28, 2018
• Study Completion: July 28, 2018
• Last Updated: June 9, 2017

Record last verified: 2017-06

Data Sharing

• IPD Sharing: Will not share