International Niemann–Pick Disease Alliance

New Treatment of Disease that Swells Organs Gives New Hope to 4-year-old Girl

Medical geneticists at the Clinical Research Center of the Hospital de Clinicas in Porto Alegre are betting on an unprecedented treatment for a rare disease, known as ASMD Niemann-Pick disease type B. The disease has no cure, and causes disproportionate growth of organs including the liver and spleen.

The condition is caused by the lack of an enzyme in the body called sphingomyelin acid that causes fat accumulation in these areas. According to the Brazilian geneticist Roberto Giugliani, it is is estimated that only about 200 people are carriers of this disease in Brazil alone, which can be presented in three different types: A, B, and C.

Three patients have volunteered for an experimental treatment of NPD, two from Rio Grande do Sul and one from Rio Janeiro. The study consists of examinations at the UFRGS (Federal University of Rio Grande do Sul) every 15 days for a period of one and a half years in total.

“Until this year, there was no treatment for Niemann-Pick disease type B. Now we have begun testing a new drug that consists of an artificial enzyme manufactured in a US laboratory. This enzyme will be administered to the patient every two weeks here at the hospital.” explained the head of the clinical research group of the public hospital, Roberto Giugliani.

The drug, made by an American Laboratory Sanofi Genzyme, was approved by Anvisa (drug regulator) to be tested in the clinical phase.

At four years old, Isadora Betina Prateleira is one of the carriers of the disease currently being treated. Isadora was diagnosed with the condition at just seven months of age.

“She started having bouts of diahorrea and abdominal pains. We noticed that her belly gradually started to increase, and in appointment with a paediatrician we arrived at the diagnosis” explained Isadora’s mother, Betina Viegas Bender.

In January of this year, Isadora was selected to participate in the tests. In the first phase Isadora, and the other participants, undergo 26 sessions over a year of therapy. The brave São Leopoldo native concluded her 20th session on the 10th October.

According to Dr. Roberto Giugliani, the infusion method of the artificial enzyme is very simple. “It’s like getting a serum. The patient gets the intravenous drug for four hours at a time. From what can be seen, there are consistent improvements in the size of the organs, as they begin to decrease in size. The patient also tends to have more energy as a result. Although we are only at the beginning of this study, the clinical indications have so far been incredibly favourable.”

The second stage of the treatment will begin in 2018, and will last approximately six months. After the study is complete the efficacy of the medication will be evaluated. If it has been show to be effective, the pharmacist can request approval from Anvisa to regulate the sale in the country.

“Isadora has since gained more energy, increased muscle mass, improved balance, the swelling in her abdomen has decreased, she has gained weight and is now growing at a rate of 1cm in height every month!” remarked her mother.

Another patient came from Rio de Janeiro to try the new treatment. Luiz Henrque, 9, also travels with his family to Porto Alegre every 15 days.

Luiz’s was diagnosed with Niemann-Pick at seven months of age. “Prior to that, at five months of age, Luiz Henrique had a serious respiratory problem and had to go to the ICU. The liver and spleen were swollen” said Luiz’s mother,  Núbia Jaqueline da Rocha. Only after performing a liver biopsy, was it discovered that Luiz did in fact have ASMD Niemann-Pick disease type B.

At 46 – Hope for Healing

After numerous tests in search of a clear diagnosis, Marta Terezinha Vieira, 46, discovered just five years ago that he had Niemann-Pick type B.

As a child, Vieira had typical symptoms such as persistent bloody noses, swelling of organs, and growth problems. At age 27, he began to have joint pains.

“I spent years doing tests here in Santa Maria, and the first diagnosis I got, was of Gaucher’s Disease. I was then sent to Porto Alegre for examinations, where I was re-diagnosed as a carrier of ASMD Niemann-Pick Disease type B.” Now Marta remains positive as one of the patients taking part in this test phase with new medication. The treatment represents the hope of a cure for the disease. “I’m feeling much better. I started treatment in June this year and I’m in the 10th session.” he said.

The lack of information about this disease has motivated relatives of patients across the world to set up their own patient support groups – here in Brazil, the group ‘Niemann-Pick B-RS’ was set up in 2014. You can find stories, information, and research on the disease on their Facebook page, here.

This article was translated from Portuguese, with all rights reserved to the original author. 

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