Another child being treated for rare disease at JK Lone Hospital

Jaipur, October 2

The Rare Diseases Center at the government’s JK Lone Hospital in Jaipur has got a second child suffering from spinal muscular atrophy (SMA) type 1. Treatment has been started by giving Risdiplam (Evrysdi) to this 3.2-year old.

JK Lone Hospital superintendent and the in-charge of Rare Diseases Centre Dr Ashok Gupta said this child was brought to JK Lone Hospital from Lucknow (Uttar Pradesh) for the treatment. He said the mother of the child noticed that the child was having decreased movements and weakness of lower limbs for the first time at the age of 5 months. The motor milestones of the child were delayed; she started sitting at the age of around 8 months and started standing at 15 months of age. She started walking at around 16 months of age but lost the ability to walk at around 19 months of age with progression of weakness in both lower limbs, he added.

He said that the parents consulted the doctor for these complaints and genetic tests for SMA were done. The test report revealed deletion of both copies of survival motor neuron (SMN) 1 gene and four copies of SMN2 gene, which confirmed the diagnosis of SMA. Parents tried to get treatment with newer drugs but couldn’t procure drugs as they could not afford. Father is a teacher in a private school.

The parents contacted the Center at JK Lone Hospital for help. The Rare diseases team made this drug available free of cost to the patient through a compassionate use program and it was started from today to the patient. It is to be mentioned that this drug costs Rs 4 crore per year and the patient has to take it lifelong, Dr Gupta said.

The drug is an oral daily therapy for patients aged more than two months with all types of SMA. It is a small molecule oral treatment that can be taken at home.

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 that symptoms begin, and the highest physical milestone achieved. The severity of symptoms and age of onset varies by the type. 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.

Dr Gupta said that the drug Risdiplam acts on pseudogene of SMA and acts by including Exon 7 of SMA pseudogene in translation of SMN protein. It is expected that with formation of functional protein with this drug these patients can lead to a normal life.

Along with Dr Gupta is Dr. Priyanshu Mathur, Associate Professor and Consultant Pediatric Rare and Metabolic Genetic Disorders.

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