NICOSIA: In an unprecedented move, the US Food and Drug Administration (FDA) simultaneously approved two innovative gene therapies for individuals with sickle cell anaemia last Friday, offering substantial hope for a radical treatment of this severe haematological disorder.
 
The two therapies are Casgevy (exa-cel) by Vertex Pharmaceuticals and CRISPR Therapeutics – the world's first drug to utilise the revolutionary CRISPR gene-editing system which earned its creators the 2020 Nobel Prize in Chemistry –, and bluebird bio's Lyfgenia (lovo-cel), for patients 12 years and above with a history of vaso-occlusive crises (VOCs), the most severe and painful symptom of sickle cell anaemia.
 
Despite their distinct mechanisms of action, both therapies involve modifying the patients' own blood stem cells and are administered as a one-off, single-dose injection to stimulate red blood cell production.
 
Sickle cell disease is an inherited haematological disorder causing abnormal red blood cell growth. The cells become stiff and sickle-shaped, obstructing normal blood flow, and reducing oxygen transport to tissues and organs. It affects at least 100,000 people in the United States and millions of patients worldwide, with a higher prevalence among people of African and Mediterranean descent.
 
Casgevy's approval in the US follows its approval in the UK for both sickle cell anaemia and beta-thalassaemia indications, with Bahrain following suit last week. Casgevy is under review in the US for transfusion-dependent beta-thalassaemia, with a decision anticipated by March 2024. The European Medicines Agency will also decide whether to grant approval to the therapy within the next year.
 
"We are truly witnessing history, as these approvals mark not only a major advancement for those living with sickle cell disease but also the beginning of a new era in treating numerous debilitating genetic conditions," states Dr. Androulla Eleftheriou, Executive Director of the Thalassaemia International Federation (TIF). However, she acknowledges that "these groundbreaking treatments come with challenges. The logistical complexity of gene therapies, their high costs, and bureaucratic hurdles within many national healthcare systems may delay their integration and reimbursement, ultimately affecting availability to those in need."
 
The Thalassaemia International Federation (TIF) is committed to supporting, educating, and advocating for the rights and needs of individuals with thalassaemia and other hemoglobinopathies worldwide. TIF firmly believes that patients must be given the choice to access all available, approved, and safe treatment options—regardless of cost—to uphold their right to the best possible quality of life. Governments ought to prioritize addressing the availability and accessibility of these innovative treatments for eligible patients.
 
Inclusive health policies, proactive infrastructure development, mature regulatory environments, and the establishment of flexible financing models and reimbursement strategies are critical components in expanding access to these life-saving treatments.

ABOUT TIF: 
Thalassaemia International Federation (TIF), a non-governmental, patient-driven umbrella organisation, established in 1986, supports the rights of patients for access to quality health, social and other care through its work with over 231 national thalassaemia associations in 69 countries across the world. Founded by a small group of doctors and patients/parents who represented National Patient Associations, mainly from Cyprus, Greece, Italy, the UK and the US, i.e. countries where thalassaemia had been recognized early as a genetic, hereditary disorder with huge medical, public health, social and economic repercussions if left unaddressed in terms of both effective prevention and management.
 
Our Mission: The prioritisation of thalassaemia on national health agendas and the development and implementation of effective disease-specific control (prevention and clinical management) programmes within national healthcare systems based on universal coverage

Our Vision: To support the provision of equal access of every affected patient to high-quality health, social and other care in a truly patient-centred healthcare setting

Our Work: Education | Advocacy | Collaborations/ Networking | Research | Raising Awareness

Our Partners: 

  • World Health Organisation: In official relations, since 1996
  • United Nations Economic and Social Council: In special consultative status, since 2017
  • Council of Europe: Participatory status at the Conference of International Non-Governmental Organisations, since 2019
  • European Commission: Official partners in the field of Health, since 2018 

ABOUT THALASSAEMIA: 
The thalassaemia syndromes are inherited blood disorders that affect the production of the normal adult haemoglobin component of red blood cells. Beta thalassaemia is the most frequent and severe form of the disease, leading to the excessive destruction of red blood cells and thus severe chronic haemolytic anaemia.

Affected patients require lifelong regular blood transfusions from early childhood, combined with iron chelation therapy to prevent complications due to iron overload, such as cardiac morbidity, liver disease, cancer and endocrine dysfunction. To effectively manage the complications of the disease, consequent to disease pathology and treatment, the provision of multidisciplinary care is mandatory. A holistic approach to care also includes social participation and protection that lead to increased quality of life.

To find out more about TIF, please visit www.thalassaemia.org.cy