Inaccessibility and cost cripple efforts to treat sickle cell disease

Subject: Science and tech

Section: Health and Disease

Sickle Cell Disease (SCD):

It is a significant genetic disorder characterized by the production of abnormally shaped red blood cells, resembling a sickle.
This disorder leads to various complications, including severe pain, anaemia, organ damage, and a shortened lifespan.
India ranks third globally in the number of SCD births, with a significant number of cases found in tribal communities.

Details:

The 2023 Guidelines for the National Programme for Prevention and Management of Sickle Cell Disease’ reveal that out of 1.13 crore individuals screened across different states in India, about 9.96 lakh (8.75%) tested positive for SCD. This high prevalence highlights the importance of concerted efforts towards the management and prevention of this disease.
SCD is recognized as one of the 21 “specified” disabilities under the Rights of Persons with Disabilities Act 2016, acknowledging the severe impact it has on individuals’ lives.
The Government of India’s 2023 launch of the National Sickle Cell Anaemia Elimination Mission aims to eradicate Sickle Cell Disease (SCD) by 2047.

Access to Treatment a Major Issue:

The accessibility of essential treatments such as hydroxyurea, which can significantly alleviate symptoms and improve the quality of life for SCD patients, is severely limited.
This medication is supposed to be available at primary healthcare levels as per the National Health Mission’s Essential Medicines List but is often only found in tertiary-level facilities.
Blood transfusion services, a crucial therapy for managing SCD, are similarly restricted to district-level facilities, leaving those in need at block levels without support.
Families frequently face the burden of arranging for blood replacement units and covering the costs of emergency transportation. Additionally, the availability of pain management medications is insufficient across the board.
Bone marrow transplantation (BMT), another potential cure for SCD, remains largely inaccessible due to challenges such as finding matched donors, the high costs associated with treatment in private facilities, and lengthy waiting periods in public hospitals.

Access to and Equity of CRISPR in Treating SCD:

The advent of CRISPR gene-editing technology offers a promising avenue for treating Sickle Cell Disease (SCD).
The U.S. FDA has approved two gene therapies for SCD for individuals aged 12 and older: Casgevy and Lyfgenia.
- Casgevy, a collaborative effort by Vertex Pharmaceuticals and CRISPR Therapeutics, marks the first CRISPR-based therapy approved in the U.S., also gaining approval in the U.K. On the other hand, Lyfgenia by Bluebird Bio employs a viral vector for modifying blood stem cells.
Both therapies involve a process of collecting a patient’s blood stem cells, modifying them in a laboratory setting, and then using high-dose chemotherapy to eliminate the faulty cells in the bone marrow.
The modified cells are reintroduced to the patient through a hematopoietic stem cell transplant.
This complex treatment process, which can extend up to a year, necessitates numerous hospital visits.

CRISPR in India:

The National Guidelines for Stem Cell Research (2017) restrict the commercialization of stem cell therapies to clinical trials with exceptions for certain treatments and only permit gene editing of stem cells for in-vitro studies, advocating for a share of financial benefits from stem cell product commercialization with donors or communities.
The National Guidelines for Gene Therapy Product Development and Clinical Trials (2019) set the stage for gene therapy development and clinical trials, particularly noting India’s commitment to utilizing CRISPR for treating sickle cell anaemia through a five-year project backed by the Council of Scientific and Industrial Research, with significant funding allocated for 2020-2023, currently in the pre-clinical phase.
Despite these advances, there are calls for the guidelines to incorporate a stronger stance on health inequity and discrimination, particularly emphasizing the need for equitable opportunities for underserved populations in clinical trials and future access to therapies.

Source: TH