Enhanced Participation in the Angelman Patient Registry Through Translation

The Global Angelman Syndrome Registry (GASR), an online platform designed for caregivers to submit data about patients with Angelman syndrome, has been translated into 19 languages, significantly increasing global participation in the registry.

Launched in 2016 under the sponsorship of the Foundation for Angelman Syndrome Therapeutics Australia, the GASR initially was available only in English. However, tools were adopted to make it accessible in other languages, with the registry becoming available in Spanish, traditional Chinese, Italian, and Hindi in 2022.

The translation process involved a semi-automated approach, with professionals in the Angelman community serving as proofreaders for the translated content. This approach aimed to ensure the accuracy and user-friendliness of the translated content.

Researchers conducted a preliminary validation study and found that responses between English- and Spanish-speaking caregivers were generally consistent, confirming the validity of the translated content. However, they noted that more work needs to be done to validate the translations fully.

Global disease registries, including the GASR, play a crucial role in collecting patient data about rare diseases, such as Angelman syndrome. The data collected through the GASR is intended to help scientists better understand the disease's natural history, help recruit for clinical trials, and develop new therapies.

The availability of translations has led to greater participation and engagement of Angelman populations from regions where Spanish, Italian, traditional Chinese, and Hindi are spoken. Enrollment in the GASR increased by 124% in Spain, 67% in Latin America, 46% in Asia, 43% in India, and 24% in Italy after translations were adopted.

The study, "Does the registry speak your language? A case study of the Global Angelman Syndrome Registry," was published in the Orphanet Journal of Rare Diseases, and the researchers wrote that there remains a need to adopt multilanguage translation strategies on rare disease patient registry websites.

The translation of the GASR website has boosted global participation by families affected by Angelman syndrome, making it easier for them to contribute valuable data about the disease. This case study serves as a potential example for other rare disease registries looking to increase participation and better understand their patient populations.