A 44-day old baby treated for two rare diseases at JK Lone Hospital

P Srinivasan / [email protected]

Jaipur, September 9

A 44-day old baby suffering from two rare diseases Pompe Disease and Spinal Muscular Atrophy (SMA) type-I was treated with enzyme replacement therapy (ERT) at the government’s JK Lone Hospital   in Jaipur.

Dr. Ashok Gupta the senior professor and in charge of Rare Disease Center at the hospital said that this child was brought to Jaipur from Agra in Uttar Pradesh for the treatment. Parents brought the child at the age of 20 days with complaints of fast breathing since five days and gradually progressive. Parents also noticed that the child was having decreased movements and tone of lower limbs. He said on examination it was found that the baby had enlarged heart, breathing difficulties and muscle weakness.

The Rare Disease team including Dr Gupta, Dr Priyanshu Mathur and Dr Ramesh Choudhary did further investigations on the baby.

Dr Gupta said tests revealed that the baby had decreased levels of enzyme lysosomal acid alpha glucosidase, which resulted in infantile onset Pompe disease. In view of decreased movements and reflexes in lower limb, JK lone Rare disease team also evaluated this baby for SMA type 1 and the MLPA report confirmed the diagnosis of SMA type 1 (deletion of both copies of SMN gene with 4 copy numbers of SMA pseudogene). The team started treatment for Pompe disease and looked for the improvement before starting treatment for SMA 1.

The expert claimed that according to available literature, this is the first case in the world that a patient suffered from two rare now treatable genetic disorders simultaneously (Pompe Disease with SMA type 1).  This is probably the first time in India that a 44-day baby was started on ERT for infantile Pompe Disease.

The drug for Pompe Disease costs around 25-30 lakh per year and drug for SMA type 1 costs around 4 crore per year and both the drugs need to be given lifelong. Dr Gupta said that ERT (Myozyme) was made available through a compassionate use program to this patient and already applied for charitable access for a new drug for SMA. The enzyme replacement helps to break down glycogen and stops it building up abnormally in the cells. Without treatment these patients do not survive. It is expected that these patients can lead to a normal life with this ERT.

The drug for SMP is an oral daily therapy for patients aged more than 2 months with all types of spinal muscular atrophy (SMA). It is a small molecule oral treatment that can be taken at home, he added.

Dr Gupta said that now the facility to start this treatment is available at the Rare Disease Center in the hospital.

About the diseases

Pompe disease is a rare inborn error of metabolism with an estimated frequency of about 1/40,000 and can affect both sexes equally. This enzyme normally breaks down sugar stored as glycogen into glucose that can be used for energy by the body’s cells. If the enzyme is not present, glycogen builds up in certain tissues, particularly the muscles, including the heart and diaphragm (the main breathing muscle under the lungs). The progressive build-up of glycogen causes a wide range of symptoms, including an enlarged heart, breathing difficulties and muscle weakness. There are three types of Pompe disease, which differ in severity and the age at which they appear. Diagnosis is suspected based on symptoms and can be confirmed by enzyme assay for Pompe disease.

Spinal muscular atrophy (SMA) is a genetic disease affecting the nervous system and voluntary muscle movement. It affects approximately 1 in 11,000 births, and can affect any race or gender. SMA is a leading genetic cause of death in infants. It is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness. There are four primary types of SMA – 1, 2, 3, and 4 based on the age. Some types are apparent at or before birth while others are not apparent until adulthood. All generally result in worsening muscle weakness associated with muscle twitching. Arm, leg and respiratory muscles are generally affected first. Associated problems may include problems with swallowing, scoliosis, and joint contractures. Individuals with SMA have difficulty performing the basic functions of life, like breathing and swallowing. Most of the patients die prematurely due to respiratory failure. Diagnosis is suspected based on symptoms and can be confirmed by genetic testing (MLPA). Without treatment these patients do not survive beyond childhood.

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