Ministry of Health and family Welfare, Government of India formulated a National Policy for Treatment of Rare Diseases (NPTRD) in July, 2017. Implementation of the policy, however, faced certain challenges. A limiting factor in its implementation was bringing States on board and lack of clarity on how much Government could support in terms of tertiary care. Public Health and Hospitals is primarily a State subject. Stakeholder consultation with the State Governments at the draft stage of formulation of the policy could not be done in an elaborate manner. When the policy was shared with State Governments, issues such as cost effectiveness of interventions for rare disease vis- a-vis other health priorities, the sharing of expenditure between Central and State Governments, flexibility to State Governments to accept the policy or change it according to their situation, were raised by some of the State Governments.
Cystic fibrosis (CF), a rare, progressive, life-threatening disease, results in the formation of thick mucus that builds up in the lungs, digestive tract, and other parts of the body. It leads to severe respiratory and digestive problems as well as other complications such as infections and diabetes.
Duchenne muscular dystrophy (DMD) is a genetic disorder which affects the muscles. It usually affects male children, but rarely female children may also be affected.
Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme alpha-galactosidase A. This leads to accumulation of harmful levels of glycosphingolipids in different organs of the body.
Gaucher disease is a rare genetic disorder affecting fat metabolism. It belongs to a family of diseases called Lysosomal Storage disorders (LSDs). In affected individuals, a protein (enzyme) called Beta-glucosidase is not made by the body because of a gene error. Beta glucosidase is important for the breakdown and metabolism of certain types of fat in the body. In its absence, the precursors get progressively accumulated in different parts of the body causing signs of this disease.
Hunter syndrome is an inherited lysosomal storage disorder, a type of inborn error of metabolism. It is a caused by errors in the IDS gene located on X-chromosome. The IDS gene carries instructions to make a protein (enzyme) known as iduronate-2-sulfatase (I2S). In Hunter syndrome I2S enzyme is missing as a result of an error in the IDS gene. I2S is required to break down two types of complex sugar molecules called mucopolysaccharides or glycosaminoglycans: dermatan sulfate (DS) and heparan sulfate (HS). In absence of I2S, partially broken-down products of DS and HS get stored in the body cells. As large quantities of DS and HS collect in body cells over time, the cells get damaged and symptoms become evident.
Inborn errors of immunity (IEI) also known as Primary Immunodeficiency Diseases (PID) refers to a heterogenous group of inherited disorders with defects in one or more components of the immune system. There are more than 400 hundred different types of IEI reported till date.
Pompe disease is a progressive disease that involves the accumulation of a complex sugar molecule (called glycogen) in the various muscles of the body, particularly respiratory and heart muscles.
Spinal muscular atrophy (SMA) is a genetic disorder caused by defective copies of SMN1 gene. The disease affects the nerve cells of the spinal cord. The damage to the nerve cells leads to weakness of muscles of all limbs and trunk of the body. It is one of the rare disorders where new treatment options are changing the paradigm of outcome. Most of the cases of SMA are due to defect in the both copies of SMN1 gene in the patient and cause death during infancy or lifelong disability. The novel treatments have shown opportunity of improving longevity and quality of life for patients with SMN1 related SMA.