“Future answer to hemophilia cure could lie in gene therapy”

In an exclusive chat with the BioVoice News on the occasion of the World Hemophilia Day, Dr Alok Srivastava, Professor of Medicine, Department of Haematology & Head, Centre for Stem Cell Research, Christian Medical College, shared his views on the various aspects of hemophilia disease in Indian context. Read the full conversation below:

Kindly explain the current scenario involving hemophilia and its tackling in India? What are the challenges?

A lot of progress has been made towards supporting care of people with hemophilia across the country over the past 5-10 years. This is mainly related to several state governments providing provision in their health budgets towards procurement of relevant clotting factor concentrates as well as institutionalizing supportive care at designated treatment centres which should lead to much-improved management of bleeding in these patients.  Although a lot has been achieved through the joint efforts and collaboration between the scientific community, patient body representatives, payers, and policymakers, a lot more remains to be done. There are still huge concerns around the availability of accurate diagnostic facilities across the country which leaves a very large number of patients undiagnosed.

Currently, there are ~17,000 hemophilia patients registered in India, which amounts to about 15% of the expected number in the country. More importantly,  most of the currently diagnosed patients are still not on appropriate standards of care through regular (prophylactic) factor replacement. Instead, they only receive episodic factor treatment during the time of bleeding. There is an urgent need to explore possibilities of providing prophylaxis at least for the younger patients and setup more treatment centres including some comprehensive care centers for hemophilia across the country which can not only provide adequate provision of factors but also support holistic care for these patients and their families.

How much important is the awareness as a tool to improve diagnostic interventions?

Large-scale community awareness plays a critical role towards improving accessibility to diagnosis, treatment, and standards of care for any lifelong disease like hemophilia and should be the number one priority for governments and other stakeholders involved in the provision of care. It is also important to continuously sensitize the medical community regarding the importance of timely suspicion and diagnosis so that the disorder can be diagnosed early at a younger age as many of these severe hemophilics if started early on routine factor replacement have the high probability to lead a normal life and grow into healthy adult.

“The future answer to hemophilia cure could lie in ‘gene therapy’ which has been a subject of active research over the past decade globally and now even in India. The ultimate goal of gene therapy is the replacement of a defective gene sequence with a corrected version to eliminate disease for the lifetime of the patient.”

Do we have enough anti-Hemophiliac factors available for the patient community in India?  How can we improve access?

Hemophilia management involves the adequate provision for regular replacement (prophylaxis) of safe and effective clotting factor concentrates (CFC) – FVIII or FIX or bypass agents for those with inhibitors, along with relevant supportive infrastructure including diagnostic laboratories facilities for clinical care, particularly hematological management, physiotherapy and basic outcome assessment.  Uninterrupted access to safe and effective CFC is the most critical requirement to improve long term outcome along with a system to ensure its proper utilization. The major advance in hemophilia care in India in the last 5 years is related to the increasing role of both central and state governments with specific budgets and plans. The government therefore now plays a critical role in establishing infrastructure to support awareness, diagnosis and management of the diseases in addition to provision of clotting factor concentrates.

What are the latest research trends in finding a cure for the disease?

Hemophilia is a rare X-linked genetic disorder where there is a deficiency or absence of critical factors which are part of the clotting cascade. Currently, there is no cure for hemophilia and the gold standard of treatment involves the provision of routine replacement of the deficient clotting factor (VIII or IX). The future answer to hemophilia cure could lie in ‘gene therapy’ which has been a subject of active research over the past decade globally and now even in India. The ultimate goal of gene therapy is the replacement of a defective gene sequence with a corrected version to eliminate disease for the lifetime of the patient.

What role should the govt play in this? And how can the private healthcare providers contribute?

The major advance in hemophilia care in India in the last 5 years is related to the increasing role of both central and state governments with specific budgets and plans. The government therefore now plays a critical role in establishing infrastructure to support awareness, diagnosis and management of the diseases in addition to provision of clotting factor concentrates. For instance, each year along with activities related to the World Hemophilia Day on April 17th, the Hemophilia Federation of India organizes a sensitization programme, with the participation of the Ministry of Health and Family Welfare (MoHFW) as well as several other related government agencies to help increase awareness and inform about the newer developments in the field in the country; their impact on improving outcomes of care for these patients. Similar programs are also arranged in different cities in the country with participation of local government authorities.