Rahi Parkia, only daughter of a Surat couple, was diagnosed with Tyrosinemia Type 1, a rare
inborn error of metabolism resulting in elevated levels of tyrosine (an essential amino acid).
Due to this defect, tyrosine is not metabolised in the body and elevated levels affect
multiple organs like liver, nervous system and kidneys. Untreated disease leads to early liver
cancer which is uniformly fatal. Rahi had cirrhosis, portal hypertension, renal tubular
acidosis (kidney damage) and bone deformity accompanied by growth failure. The only possible
lifesaving treatment option for her was a timely liver transplant, Dr Anurag Shrimal,
director, liver, pancreas and intestine transplantation, said
https://www.hindustantimes.com/cities/mumbai-news/liver-transplant-saves-5-year-old-mumbai-
girl-as-parents-of-brain-dead-toddler-donate-organ-101689792781882.html

 

Telangana: 23-day-old with rare disease gets liver transplan ..
Read more at:
http://timesofindia.indiatimes.com/articleshow/95971351.cms?
utm_source=contentofinterest&utm_medium=text&utm_campaign=cppst

 

India Youngest Successful Liver Transplantation On A One-Month-Old Baby, Performed At Dr Rela Hospital
Dr. Rela Hospital performed India first successful liver transplantation on a one-month-old baby on
23rd July in the city. The youngest child to undergo liver transplantation in the country is now doing
well and is under the hospital’s postoperative care.
This rare surgery was performed on Aadav (name changed) from Mumbai, who had developed vomiting in the
first week of birth, requiring immediate hospitalization. What was believed to be a simple infection, was
later diagnosed as urea cycle disorder, which is a metabolic disorder.
https://www.relainstitute.com/success-stories/indias-youngest-successful-liver-transplantation/

 

2 liver transplants give Oman, Delhi boys a new life
Doctors performed a 10-hour-long domino liver transplant on the kids in which one of the recipients
becomes the donor and the first recipient gets a healthy donor liver.
https://indianexpress.com/article/cities/delhi/how-maple-syrup-urine-disease-in-one-boy-in-oman-saved-
the-life-of-another-in-delhi-7278677/

Six-month-old with genetic disorder undergoes rare liver transplant
https://timesofindia.indiatimes.com/city/hyderabad/six-month-old-with-genetic-disorder-undergoes-rare-
liver-transplant/articleshow/67480372.cms

 

The Central Government has given full exemption from basic customs duty on all drugs and Food for Special
Medical Purposes imported for personal use for treatment of all Rare Diseases listed under the National
Policy for Rare Diseases 2021 through a general exemption notification.

GST Council recommends IGST exemption for Dinutuximab (Quarziba), medicines and Food for Special Medical
Purposes (FSMP) when imported for personal use subject to existing conditions. Recommends extension of
exemption to FSMP imported by Centres of Excellence for Rare Diseases or any institution or person on
recommendation of such listed Centres of Excellence
https://pib.gov.in/PressReleaseIframePage.aspx?PRID=1938812

 

Ministry of Health and Family Welfare
National Policy on Rare Diseases
Posted On: 07 FEB 2020 12:52PM by PIB Delhi
A draft National Policy for Rare Diseases has been finalized and placed on the website of the Ministry
of Health and Family Welfare with a view to elicit comments / views of the stakeholders, including the
States/UTs and the general public by 15-02-2020.

The draft policy provides for lowering the incidence of rare diseases based on an integrated preventive
strategy encompassing awareness generation and screening programmes and, within the constraints on
resources and competing health care priorities, enable access to affordable health care to patients of
rare diseases which are amenable to one-time treatment.
The draft policy has noted that number of persons suffering from diseases considered rare globally, is
lacking in India and accordingly provides that for the purpose of the policy the term rare diseases
shall construe three goup of disorders identified and categorised by experts based on their clinical
experience. Considering the limited data available on rare diseases, and in the light of competing
health priorities, the focus of the dradt policy is on prevention of rare diseases as a priority for
all the three groups of rare diseases identified by experts.

List of identified rare diseases covered for treatment under the Umbrella Scheme of
RashtriyaArogyaNidhi

Group 1: Disorders amenable to one time curative treatment
Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation (HSCT) –
Such Lysosomal Storage Disorders (LSDs) for which Enzyme replacement Therapy (ERT) is presently not
available and severe form of Mucopolysaccharoidosis (MPS) type I within first 2 years of age.
Adrenoleukodystrophy (early stages), before the onset of hard neurological signs.
Immune deficiency disorders like Severe Combined Immunodeficiency (SCID), Chronic Granulomatous
disease, Wiskot Aldrich Syndrome,etc
Osteopetrosis
Fanconi Anemia
Others if any to be decided on case to case basis by a technical committee

Disorders amenable to organ transplantation
Liver Transplantation -Metabolic Liver diseases:
Tyrosinemia,
Glycogen storage disorders (GSD) I, III and IV due to poor metabolic control, multiple liver adenomas,
or high risk for Hepatocellualr carcinoma or evidence of substantial cirrhosis or liver dysfunction or
progressive liver failure,
MSUD (Maple Syrup Urine Disease),
Urea cycle disorders,
Organic acidemias
Renal Transplantation-
Fabry’s disease
Autosomal recessive Polycystic Kidney Disease (ARPKD),
Autosomal dominant Polycystic Kidney Disease (ADPKD) etc
Patients requiring combined liver and kidney transplants can also be considered if the same ceiling of
funds is maintained. ( Rarely Methyl Malonic aciduria may require combined liver & Kidney transplant)
etc
Group 2: Diseases requiring long term / lifelong treatment having relatively lower cost of treatment
and benefit has been documented in literature and annual or more frequent surveillance is required:
Disorders managed with special dietary formulae or Food for special medical purposes (FSMP)
Phenylketonuria (PKU)
Non-PKU hyperphenylalaninemia conditions
Maple Syrup Urine Disease (MSUD)
Tyrosinemia type 1 and 2
Homocystinuria
Urea Cycle Enzyme defects
Glutaric Aciduria type 1 and 2
Methyl Malonic Acidemia
Propionic Acidemia
Isovaleric Acidemia
Leucine sensitive hypoglycemia
Galactosemia
Glucose galactose malabsorbtion
Severe Food protein allergy
b) Disorders that are amenable to other forms of therapy (hormone/ specific drugs)
NTBC for Tyrosinemia Type 1
Osteogenesis Imperfecta – Bisphosphonates therapy
Growth Hormone therapy for proven GH deficiency , Prader Willi Syndrome and Turner syndrome, others (to
be decided on case to case basis by technical committee)
Cystic Fibrosis- Pancreatic enzyme supplement
Primary Immune deficiency disorders -Intravenous immunoglobulin therapy (IVIG) replacement eg. X-linked
agammablobulinemia etc.
Sodium Benzoate, arginine, ,citrulline ,phenylacetate (Urea Cycle disorders), carbaglu, Megavitamin
therapy (Organic acidemias, mitochondrial disorders)
Others - Hemin (Panhematin) for Acute intermittent Porphyria, High dose Hydroxocobalamin injections
(30mg/ml formulation – not available in India and hence expensive if imported)
Others (if any) to be decided on case-to-case basis, by a technical committee.

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.
3a) Based on the literature sufficient evidence for good long-term outcomes exists for the following
disorders
Gaucher Disease (Type I & III {without significant neurological impairment})
Hurler Syndrome [Mucopolysaccharisosis (MPS) Type I] (attenuated forms)
Hunter syndrome (MPS II) (attenuated form)
Pompe Disease diagnosed early (Both infantile & late onset)
Fabry Disease diagnosed before significant end organ damage.
Spinal Muscular Atrophy
MPS IVA
MPS VI
3b) For the following disorders for which the cost of treatment is very high and either long term
follow up literature is awaited or has been done on small number of patients
Wolman Disease
Hypophosphatasia
Neuronal ceroid lipofuscinosis
Cystic Fibrosis
Duchenne Muscular Dystrophy

 

 https://pib.gov.in/PressReleasePage.aspx?PRID=1602358