The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study.

Hamideh Sabbaghi,Paulina Bahena-Carbajal,Abbas Sheikhtaheri,Fatemeh Suri,Elham Sabbaghi,Barbara Vona,Shahnaz Mojarrab,Proshat Saviz,Mehraban Mirrahimi,Maryam Najafi,Narsis Daftarian,Laleh Pazooki,Bahareh Kheiri,Monireh Sargazi,Hamid Ahmadieh,Mahtab Salami,Houra Naraghi,Thomas Haaf,Sina Madani,Hossein Ali Shahriari,Farid Khorrami,Kazem Zendedel,Afrooz Moghadasi,Ali Tivay,Mehdi Yaseri,Frans P.M Cremers,Mohammad Zarei Nejad ,Masoumeh Kalantarion ,Alireza Maleki ,Seyed Sajad Ahmadi

doi:10.34172/aim.2020.41

Abstract

To describe the protocol for developing a national inherited retinal disease (IRD) registry in Iran and present its initial report. This community-based participatory research was approved by the Ministry of Health and Medical Education of Iran in 2016. To provide the minimum data set (MDS), several focus group meetings were held. The final MDS was handed over to an engineering team to develop a web-based software. In the pilot phase, the software was set up in two referral centers in Iran. Final IRD diagnosis was made based on clinical manifestations and genetic findings. Ultimately, patient registration was done based on all clinical and non-clinical manifestations. Initially, a total of 151 data elements were approved with Delphi technique. The registry software went live at www. IRDReg.org based on DHIS2 open source license agreement since February 2016. So far, a total of 1001 patients have been registered with a mean age of 32.41±15.60 years (range, 3 months to 74 years). The majority of the registered patients had retinitis pigmentosa (42%, 95% CI: 38.9% to 45%). Genetic testing was done for approximately 20% of the registered individuals. Our study shows successful web-based software design and data collection as a proof of concept for the first IRD registry in Iran. Multicenter integration of the IRD registry in medical centers throughout the country is well underway as planned. These data will assist researchers to rapidly access information about the distribution and genetic patterns of this disease.

Highlights

An initial registration was performed for Iranian individuals who were diagnosed with inherited retinal disease (IRD) based on clinical and paraclinical findings by a board certified retina specialist
The IRD registry was developed according to the abovementioned steps in two qualitative and quantitative study phases
The majority of the registered patients had retinitis pigmentosa (42%, 95% CI: 38.9% to 45%) which was classified as the most prevalent subtype of diffuse photoreceptor dystrophy

Summary

Introduction

According to the definition presented by the National Committee on Vital and Health Statistics, a patient or a disease registry is an organized system for collection, storage, retrieval, analysis, and dissemination of information being widely applied in medicine and public health domain.[7,8] Registries are essential tools for providing information about the prevalence and natural history of a particular type of disease, discovering associated environmental and genetic factors, and prognosis related to different therapeutic approaches.[8,9,10,11] From administrative perspectives, patient and disease registries are efficient tools in improving health outcomes as well as reducing treatment costs They may become useful in providing clinical guidelines and recruiting patients for clinical trial studies.[8,9,10,11,12,13]. Multicenter integration of the IRD registry in medical centers throughout the country is well underway as planned These data will assist researchers to rapidly access information about the distribution and genetic patterns of this disease.

Objectives

Results

Conclusion