AMCH Launches Specialised Treatment for Rare Diseases in Assam

Assam Medical College and Hospital has officially initiated treatment for patients suffering from rare diseases, marking an important step towards improving access to specialised healthcare in Assam and the Northeast.

• At least 15 patients from Assam and neighbouring Tripura received treatment at the launch.
• AMCH has so far identified 85 patients suffering from different rare conditions.

AMCH as a Centre of Excellence

• AMCH was designated a Centre of Excellence for Rare Diseases under the National Policy for Rare Diseases, 2021 by the Union Ministry of Health and Family Welfare.
• It is the first medical institute in Assam and the second in the Northeast to receive this designation.
• The initiative is important because patients with rare diseases often require specialised diagnosis, multidisciplinary care and expensive medicines, which may be difficult to access locally.

Major rare diseases identified at AMCH

The identified cases include:

• 21 cases of Spinal Muscular Atrophy.
• 50 cases of Duchenne Muscular Dystrophy.
• 3 cases of Gaucher Disease.
• 2 cases of Mucopolysaccharidosis.
• Other identified conditions include Cystic Fibrosis, Wiskott-Aldrich Syndrome, Osteogenesis Imperfecta, Prader-Willi Syndrome and Galactosemia.

National Policy for Rare Diseases, 2021

• The Ministry of Health & Family Welfare launched the National Policy for Rare Diseases (NPRD) in March 2021.
• It aims to strengthen the prevention, diagnosis and management of rare diseases and improve access to treatment.
• Under the policy, eligible patients can receive financial assistance of up to ₹50 lakh for treatment at the notified Centres of Excellence (CoEs) for Rare Diseases.
  • 12 CoEs have been identified so far.
• At present, 63 rare diseases are included under the National Policy for Rare Diseases on the recommendation of the Central Technical Committee for Rare Diseases (CTCRD).
• The rare diseases have been identified and categorized into 3 groups.
  • Group 1: Disorders amenable to one-time curative treatment.
  • Group 2: Diseases requiring long-term/lifelong treatment with relatively lower cost of treatment.
  • Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost, and lifelong therapy.

Way forward

• AMCH plans to establish an advanced integrated diagnostic laboratory with gene-sequencing facilities and cross-disciplinary testing.
• The Central Government has approved ₹5 crore for this facility.
• Strengthening local diagnostic and treatment facilities can reduce the need for patients from the Northeast to travel to distant parts of India and can lower the financial burden on families.

Exam Hook – Prelims

Consider the following statements:

1. The National Policy for Rare Diseases was introduced in 2021.
2. The policy provides for the development of Centres of Excellence for rare diseases.
3. Eligible patients can receive financial assistance of up to ₹50 lakh for treatment.

Which of the statements given above is/are correct? Answer: 1, 2 and 3. One-line wrap: AMCH’s initiative reflects the shift towards decentralised, specialised and affordable healthcare for patients with rare diseases in the Northeast.