Research – Thalassaemia and Sickle Cell Australia

New TIF Resources: Thalassaemia Guidelines and COVID-19 Vaccination Guide

It’s Here: The 4th Edition of TIF Guidelines for The Management of TDT

TIF, its Board of Directors and its International Scientific Advisory Board proudly present the 4th Edition of the Federation’s most prestigious and renowned publication, the TIF Guidelines for The Management of Transfusion- Dependent Thalassaemia (TDT).

Since 1999, when the very first edition was originally released as part of the Federation’s Educational Programme, the TIF Guidelines have been adopted and used extensively by academics, researchers and healthcare professionals all over the world as the only evidence-based reference text concerning the treatment of patients with TDT.

The newly launched edition includes brand new chapters on the recently approved modalities of patient treatment, the value of patient engagement at the decision-making level, the Reference Centres’ contribution to patient care, and much more.

We are confident that these Guidelines will offer once again valuable information to all allied physicians involved in the treatment of patients with this blood disorder and will consequently benefit the global thalassaemia community many times over.

The June Update: TIF’s Guide on COVID-19 Vaccinations and Therapeutic Drugs

As vaccination rates are slowing in the US and Europe, the spread of the Delta coronavirus variant causes growing concerns worldwide with health experts predicting the highly infectious strain to soon account for the majority of COVID-19 cases globally.

In our latest Guide on ‘COVID-19 Vaccinations and Therapeutic Drugs’, we have gathered the latest news, updates, and the information you need about:

the current status of COVID-19 vaccinations in major countries and regions
the clinical development and production of COVID-19 vaccines
a breakdown of differences between the Pfizer, Moderna, AstraZeneca, and Johnson & Johnson COVID-19 vaccines
the COVID-19 variants and the existing vaccines’ effectiveness
the COVID-19 vaccines in Phase 3 clinical trials

University of New South Wales Preimplantation Genetic Testing Survey

Couples’ decision-making when considering preimplantation genetic testing (PGT) because of a hereditary condition

Researchers at the University of New South Wales are recruiting participants to consider a research study titled “Couples’ decision-making when considering preimplantation genetic testing (PGT) because of a hereditary condition”. Preimplantation genetic diagnosis (PGD) is a reproductive technique used to test embryos to determine whether they are affected by a particular genetic condition. It is also known as “Preimplantation Genetic Testing for monogenic/single gene defects” or “PGT-M”.

This research study aims to investigate couples’ decision-making towards using PGT-M by using an online survey.

You and your partner are eligible to participate in this study if you and your partner are at risk of having a child affected by a genetic condition and are either considering using PGT-M or have already undergone PGT-M.

Participation in the study would involve completing an online questionnaire, which will take about 15 minutes. If you have a partner, and your partner is also interested in participating in our study, please forward this email to your partner. The Participant Information is included in the link below, which provides more details about this study and describes what participation will involve. The first 200 individuals who complete the questionnaire will be provided with a $30 Coles gift card to reimburse their time. Participation in this research is voluntary. Your decision regarding whether to take part will not affect your relationship with your doctor and UNSW.

Though both you and your partner are encouraged to take part in our study, only one individual’s participation is also welcome. If you are interested in participating in this study, please click on the link relating to the appropriate questionnaire version below.

Link 1: Questionnaire for women who have undergone PGT-M (PGD)

Link 2: Questionnaire for women who are considering PGT-M (PGD)

If your partner is interested in participating. We ask that your partner click on the link to the appropriate version below or copy and paste the URL into an internet browser:

Link 3: Questionnaire for partners of women who have undergone PGT-M (PGD)

Link 4: Questionnaire for partners of women who are considering PGT-M (PGD)

If you or your partner have any questions, please contact the Research Coordinator, Ms Lin Cheng at UNSW (email: lin.cheng@student.unsw.edu.au or call 1800 814 403 for free).

You can also contact the Coordinating Principal Investigator Professor Bettina Meiser via email address: b.meiser@unsw.edu.au or call 9385 0025.

Murdoch Children’s Research Institute’s COVID Vaccine Preparedness survey

COVID-19 vaccine delivery may be prioritised for people aged 70 years-old and older, and for adults with chronic conditions like heart disease, respiratory conditions, diabetes, neurological conditions, immunocompromising conditions, renal disease or haematological disorders.

If you’re in one of these groups, we want to hear from you!

What do you want to know about the COVID-19 vaccines, and how do you want to get that information?

Never before have we undertaken a vaccine program on this scale. We want to understand what is needed to help you make decisions about getting vaccinated. Help shape the Victorian COVID-19 vaccination communication strategy by completing the Murdoch Children’s Research Institute’s COVID Vaccine Preparedness survey:

https://redcap.link/COVID19Vaccine

This online survey takes 10 minutes and can be completed anonymously. Participants can enter to win one of eight gift vouchers.

This study is led by researchers from the Murdoch Children’s Research Institute with partners from the University of Melbourne, Monash University, The University of Sydney and the University of New South Wales. It is funded by the Victorian Department of Health.

To learn more about the study and complete the survey, click HERE

Please share this survey with family and friends who may be eligible. If you have any questions, please contact Dr Jessica Kaufman 03 9345 4890 or COVIDVaccine@mcri.edu.au

Bluebird Bio Announces Temporary Suspension on clinical trials of LentiGlobin Gene Therapy for Sickle Cell Disease

Bluebird Bio, developer of gene therapy Zynteglo, has suspended their clinical study of the treatment on sickle cell patients after adverse events were reported. Two patients developed Acute Myeloid Leukemia (AML), a type of blood and bone marrow cancer, after being treated with Zynteglo five years ago.

A patient was reported last week developing Myelodysplastic Syndrome (MDS), a blood cell production disorder, This follows a case of MDS in 2018 that was attributed to the chemotherapy received in preparation for gene therapy.

It is currently unknown as to whether the development of AML was caused by the viral vector used in the therapy. Further investigations are underway.

No cases of hematologic malignancy such as AML or MDS has been reported in the use of Zynteglo for β-thalassaemia so far. However, the marketing of Zynteglo in Europe has been suspended as a precautionary measure.

Zynteglo, previously known as Lentiglobin, is a gene therapy developed by US Biotechnology company Bluebird Bio for the treatment of sickle cell disease and transfusion-dependent β-thalassaemia. The therapy uses a viral vector to deliver genetic changes to patients with the hope of improving haemoglobin and red blood cell production.

European Medicines Agency Accepts GBT’s Marketing Authorization Application (MAA) for Oxbryta® (voxelotor) for the Treatment of Hemolytic Anemia in Sickle Cell Disease

Global Blood Therapeutics, Inc. (GBT) announced that the European Medicines Agency (EMA) has completed the validation of GBT’s Marketing Authorization Application (MAA) for Oxbryta (voxelotor) tablets and started its standard review process.

A first-in-class oral, once-daily therapy, Oxbryta directly inhibits haemoglobin polymerization, the root cause of the sickling and destruction of red blood cells in SCD. The sickling process causes hemolytic anaemia (low haemoglobin due to red blood cell destruction) and blockages in capillaries and small blood vessels, which impede the flow of blood and oxygen throughout the body. The diminished oxygen delivery to tissues and organs can lead to life-threatening complications, including stroke and irreversible organ damage.

“Sickle cell disease has a devastating impact on the lives of patients and their families, including serious and life-threatening complications that can lead to organ damage and early death,” said Ted W. Love, M.D., president and chief executive officer of GBT. “Despite this overwhelming need, there are currently no approved therapies in Europe that have the potential to modify the course of the disease. We look forward to working with the EMA to meet our goal of bringing the first treatment for hemolytic anaemia in sickle cell disease to European patients as soon as possible.”

The marketing authorisation application is based on data from the Phase III HOPE study and the Phase II HOPE-KIDS 1 study, both of which enrolled patients at clinical sites in Europe. The HOPE study achieved its primary endpoint.

The analysis of the complete data from the HOPE study further demonstrated that Oxbryta, at a daily dose of 1,500mg, resulted in durable improvements in haemoglobin levels and markers of haemolysis over 72 weeks of treatment.

Oxbryta has already been approved in the US for the treatment of SCD in adults and children 12 years of age and older.

Read the Full GBT Press Release HERE

Haemoglobinopathy Registry at Monash Health

Monash Health is pleased to be participating in the Haemoglobinopathy Registry (HbR), a national database set up to monitor the health of Australians living with thalassaemia, sickle cell disease and other disorders of haemoglobin, and the medical care they receive.

The registry is an important first step in a major project, which aims to ensure that all Australians living with a haemoglobinopathy receive the best possible medical care, now and in the years to come. The more people who participate in the registry, the better researchers will be able to assess the current situation and help plan for the future.

The Haemoglobinopathy Registry is managed by Monash University and has been approved by the Monash Health Research Ethics Committee. We have enclosed a registry information brochure, which describes what your participation means and how your privacy is protected. Participation is voluntary and will have no impact on the care you receive.

This registry is an ‘opt‐out’ registry. This means that unless you inform us within 14 days of the date of this letter that you do not wish to participate, we will begin entering your details into the database. But even if you miss this cut‐off, you can still withdraw from the registry at any time, by calling the HbR project officer on freecall 1800 811 326, emailing hbr@monash.edu, or sending in the ‘Decline to Participate’ slip attached to the information brochure.

Do you have β-thalassaemia? We want to hear from you!

Monash University is currently conducting a study to better understand what men and women with beta thalassaemia know and think about fertility and pregnancy. We want to use this information to design educational materials to help people with thalassaemia better understand how thalassaemia affects fertility and how to achieve a safe and healthy pregnancy!

All we need you to do is fill out an online survey. It will only take 20 minutes to complete and will ask you about your experiences and knowledge about contraception, fertility and pregnancy in thalassaemia. The survey responses are completely confidential and anonymous.

To access the survey, please click here. You can complete the survey anytime on your computer, phone or any other device!

The more people who complete the survey, the better we can make the educational materials, so if you know anyone who would be interested in participating please pass the link on!