Hyderabad researchers find remedy to stop progression of rare genetic disease

HYDERABAD: City researchers and doctors have rescued a nine-year-old boy from a rare progressive genetic disease by identifying it at an early stage and prescribing precision medicine with significant improvement in the health condition.
The genetic disease identified as cerebrotendinous xanthomatosis or CTX starts with diarrhoea in the infancy and progresses to cataract in childhood and neurodegeneration in the adolescent or adulthood. Only four CTX cases have so far been medically documented in India. CTX is a lipid storage skin disease with no known medical cure but its progression can be stopped.
The doctors-researchers team stopped the disease progression by administering two capsules of cholic acid daily as a specific drug for three months and subsequent diagnosis showed that the levels of cholestenol (a chemical sterol that makes lipids) have decreased resulting in drastic control over juvenile diarrhoea, a characteristic feature of CTX. There was 70% improvement in overall ophthalmological evaluation.
The experts decided to continue clinical evaluation every three months with cholestenol plasma concentration, neurologic and neuropsychological parameters, brain MRI, echocardiogram and assessment of bone density. The team was drawn from the Genome Foundation and the Dermatology Association of Telangana, apart from multidisciplinary clinicians including Dr KPC Gandhi of Genome Foundation.
According to the researchers, only four such cases were reported in India, all diagnosed in adulthood after the onset of serious neurological conditions with morbidity and mortality.
In the present case, early diagnosis at the age of nine years by genetic testing has led to initiating administration of precision medicine to prevent onset of progressive neurologic dysfunction and life threatening neurological conditions like dementia (loss of memory), psychiatric disturbances etc.
It all began with the boy not able to read the black board in the classroom and the teacher suggesting an eye test. A local ophthalmologist found an early cataract and suspected Xeroderma pigmentosa disease and referred him to LV Prasad Eye Institute, where Dr Sampada Kulkarni, paediatric ophthalmologist, confirmed early cataract which may require planning for surgery. He also noticed some lesions and nodules just below the skin. The boy was referred to a dermatologist.
Dr Vaggu Ananda Kumar, dermatologist, KIMS, Hyderabad, suspected lipid storage disorder and referred the boy to Genome Foundation for genetic testing. A team of geneticists under Prof VR Rao diagnosed the disease as CTX. There was a mutation in the gene CYP27A1, which is involved in the production of an enzyme that breaks down cholesterol. Metabolic disorders expert Dr Anil Jalan of Mumbai noticed abnormal levels of cholestenol.
According to the team, the condition is rare and occurs in an estimated three to five out of every 100,000 people. The condition affects all genders and ethnicities. However, it is the most common in the Moroccan Jewish population.