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РЕГИСТР ГЕННОЙ ТЕРАПИИ

Регистр Генной Терапии

Регистр генной терапии (РГТ, англ. GTR) — это проспективный, обсервационный, лонгитюдный регистр, разработанный с целью долгосрочного сбора данных о лицах с гемофилией  (ЛсГ), получающих генную терапию.

Основная цель РГТ состоит в определении долгосрочной безопасности генной терапии фактора VIII и фактора IX для лиц с гемофилией.  Второстепенная цель — выяснить долгосрочную эффективность и долговечность генной терапии фактора VIII и фактора IX у лиц с гемофилией, а также оценить долгосрочное качество жизни и бремя болезни после проведенной генной терапии.

УЧАСТВОВАТЬ В РГТ

Data will be captured in the registry one of two ways:

  1. Directly via participating hemophilia treatment centres (HTCs)
  • All HTCs that will be administering gene therapy for PWH will be invited to participate. HTCs that will be providing follow up visits for PWH who receive gene therapy will either be invited to participate, or the patient data collected at the follow up site will be sent to the HTC administering gene therapy for inclusion in the registry.

If your HTC is interested in participating in the GTR, please email us at gtr@wfh.org. The WFH will guide you through the process of obtaining ethics approval from your local institution.

  1. Through data transfer/linking from existing national hemophilia registries who meet specific criteria and can ensure the following:
  • Collection of the same/similar data fields as the WFH GTR core data set
  • Harmonization and standardization of terminology, particularly for adverse events
  • Patient consent for secondary uses of their data outside of the existing registry
  • Strict data quality management practices and high-quality data
  • Avoidance of duplication of PWH

If you are a patient with hemophilia who has received gene therapy and is interested in participating in the GTR, please contact your HTC.

Further information can be found in the user guide on the basics of hemophilia, gene therapy, and long-term data collection, and the user guide for people with hemophilia.

GTR GOVERNANCE

A comprehensive governance structure—involving several key committees—was established to ensure the success of the GTR. The governance structure includes input from the Scientific Advisory Board (SAB), the National Registries & Hemophilia Treatment Centres Consortium, the steering committee, the industry consortium, and the patient advisory group. Representatives from various patient and healthcare professional organizations—including the International Society of Thrombosis and Hemostasis (ISTH), the European Association for Haemophilia and Allied Disorders (EAHAD), the European Haemophilia Consortium (EHC), and the US National Bleeding Disorders Foundation (NBDF)—are represented on the different committees.

ДАННЫЕ РГТ

РГТ ВФГ разрабатывается в сотрудничестве с Международным обществом тромбоза и гемостаза (ISTH), Европейским консорциумом гемофилии (EHC), Национальным фондом гемофилии США (NHF), Американской сетью тромбоза и гемостаза (ATHN), исследовательской группой «PROBE» («Отчеты пациентов о результатах: бремя и опыт» англ. Patient-Reported Outcomes Burdens and Experiences) и экспертами в области генной терапии. РГТ ВФГ управляется Руководящим комитетом РГТ, а данные регулируются Научно-консультативным советом РГТ ВФГ, состоящим из специалистов здравоохранения и людей с гемофилией.

С кратким изложением протокола РГТ можно ознакомиться здесь.
Набор основных данных РГТ был опубликован в журнале «Journal of Thrombosis and Haemostasis» и доступен здесь.

Our database is housed in a secure data centre with appropriate physical, administrative and technical safeguards in place. These procedures are designed to protect information from misuse, unauthorized access, interference, alteration, loss and/or disclosure, which meets or exceeds privacy and security regulation requirements in Canada, the U.S.A, and Europe. Data policy guidelines adhere to U.S.A, Canadian and European data privacy regulations. The WFH has appointed GDPR Rep as our representative in the E.U. and the U.K. to act as a point of contact for E.U. and U.K. authorities and any patient enrolled in the GTR in those regions.

Data governance is vital to ensure the accuracy, consistency, and security of the data collected and managed in the GTR. It enables efficient data use and minimizes risks, while also ensuring the GTR provides valuable insights for research, policy-making, and clinical decision-making.

A comprehensive set of standard operating procedures (SOP) have been developed by the GTR Scientific Advisory Board to govern data use in the GTR, covering topics such as:

  • Data access, rights, and requests
  • Communications, reports and publications
  • Collection and processing of safety information
  • Interpretation, evaluation and communication of safety data
  • Data quality

These SOPs ensure the ethical, secure, and efficient management of data, supporting the GTR’’s mission to assess the long-term safety, efficacy, and durability of gene therapy for hemophilia.

For more information on the SOPs, please contact gtr@wfh.org.

ПРОГРАММЫ РГТ

A man wearing a stethoscope around his neck talks across a desk to a patient

Программа по качеству данных

The GTR includes a comprehensive data quality assurance (DQA) program, which is applied to all data entered in the registry. The DQA Program is informed by best practices in the field including the European Medicines Agency’s Data Quality Framework. All data is evaluated on the following quality dimensions:

  • Reliability
  • Extensiveness
  • Coherence
  • Timeliness
  • Relevance

myGTR

myGTR is a patient engagement tool of the WFH Gene Therapy Registry (GTR). myGTR is designed to collect patient-reported outcome data through an automated digital assistant. Patients will receive alerts via their preferred contact method, either by email or text message to access myGTR. myGTR is a web-based application and is not available in any app store.

myGTR will allow patients to continue providing data on their health status; and health-related quality of life (HR-QOL) in a simple manner. At regular intervals (4 times during the first-year post-infusion, and 2 times per year thereafter ), the patient will be prompted to answer a few simple questions regarding their bleeds and treatment; and two of three different HR-QOL questionnaires, on a rotational basis (see Diagram: myGTR).

The HR-QOL questionnaires include:

  1. PROBE (Patient Reported Outcomes Burdens, and Experiences): a questionnaire collecting information about quality of life and other areas important to health.
  2. coreHEM MHO (coreHEM Mental Health Outlook): an instrument to assess mental health outlook of a person with hemophilia who has received gene therapy.
  3. EQ-5D-5L (EuroQol 5 Dimensions 5 Levels): a short tool used to measure quality of life with five questions related to mobility, self-care, usual activities, pain/discomfort, and anxiety/depression.

Data from myGTR will complement clinical data collected by physicians through the WFH GTR. All data entered in myGTR will be stored in the WFH GTR database.

Diagram: myGTR Questionnaire Cadence

A flowchart of the myGTR questionnaire cadence
Frequency: Year 1 = quarterly pushouts (email or text message); Year 2 onwards = every 6 months

Поддержка сообщества РГТ

Для получения дополнительной информации об участии в РГТ, ЛсГ и ЦЛГ приглашаются ознакомиться с приведенными ниже руководствами пользователя:

Руководства пользователя

Руководство пользователя

Основы гемофилии, генной терапии и долгосрочного сбора данных

Руководство пользователя

Центры лечения гемофилии

Руководство пользователя

Лица с гемофилией

Для получения дополнительной информации о генной терапии, пожалуйста, посетите Центр электронного обучения ВФГ по генной терапии.

ПУБЛИКАЦИИ

С публикациями, подготовленными оргкомитетом РГТ, можно ознакомиться здесь:

  • Konkle, B. A., Coffin, D., Pierce, G. F., Clark, C., George, L., Iorio, A., Mahlangu, J., Naccache, M., O’Mahony, B., Peyvandi, F., Pipe, S., Quartel, A., Sawyer, E. K., Skinner, M. W., Tortella, B., Watson, C., Winburn, I., & Members of the WFH Gene Therapy Registry Steering Committee. (2020). World Federation of Hemophilia Gene Therapy Registry. Haemophilia, 26(4), 555-741, e151-e222. https://doi.org/10.1111/hae.14015
  • Konkle, B., Pierce, G., Coffin, D., Naccache, M., Clark, R. C., George, L., Iorio, A., O’Mahony, B., Pipe, S., Skinner, M., Watson, C., Peyvandi, F., Mahlangu, J., for the ISTH Subcommittee on Factor VIII, Factor IX, Rare Bleeding Disorders. (2020). Core data set on safety, efficacy, and durability of hemophilia gene therapy for a global registry: Communication from the SSC of the ISTH. Journal of Thrombosis and Haemostasis, 18(11), 2-3128. https://doi.org/10.1111/jth.15023
  • Konkle, B. A., Peyvandi, F., Coffin, D., Naccache, M., Youttananukorn, T., Pierce, G. F., & the WFH Gene Therapy Registry Scientific Advisory Board. (2024). Landmark endorsement of a global registry: The European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP), publicly endorses World Federation of Hemophilia Gene Therapy Registry as global standard. Haemophilia, 30(1), 1-252. https://doi.org/10.1111/hae.14912
  • Miesbach, W., Konkle, B., Chowdary, P., Kaczmarek, R., Leebeek, F., Mahlangu, J., Makris, M., Pipe, S. W., Srivastava, A., Voorberg, J., Pierce, G. F., & Peyvandi, F. (2024).
    Recommendations for a minimum data set for monitoring gene therapy in hemophilia: Communication from the ISTH SSC Working Group on Gene Therapy. Journal of Thrombosis and Haemostasis, 22(5), 1510-1515. https://doi.org/10.1016/j.jtha.2023.12.039

НАШИ КОНТАКТЫ

Пожалуйста, свяжитесь с командой РГТ по адресу: gtr@wfh.org.

СПАСИБО!

РАЗРАБОТКА ГТП ПОДДЕРЖИВАЕТСЯ ФИНАНСИРОВАНИЕМ ОТ:

ПАРТНЕРЫ-СТРАТЕГИ

ADDITIONAL SUPPORT FOR THE GTR PROVIDED BY:

GDPR Rep