A family waits for a medicine

How Brazilian colleague’s little daughter could benefit from Roche research in rare diseases

February 29 is Rare Disease Day. It is a day of hope for Fernanda Silva, a Roche colleague in Brazil, and her husband Acerlan Souza. Their daughter Beatriz is seven. She is a little bundle of joy and is extremely playful. But she has a problem, a rare one. It is an ailment that has a huge impact not just on her health but on the daily life of her parents as well. Five years ago, she was diagnosed with Spinal Muscular Atrophy (SMA).

Classified as a rare disease (or orphan disease), it is one of the diseases for which Roche is currently conducting clinical trials. SMA is a life-limiting and highly disabling genetic disease characterized by progressive muscle weakness and loss of motor function. The disease affects the motor neurons of the voluntary muscles used for activities such as crawling, walking, head and neck control and swallowing and breathing. It typically presents in early childhood and usually is seen in one of 6,000 to one of 10,000 children. It is estimated that up to 20 million potential parents in the US and EU are carriers and most of them are unaware of this.

Beatriz was just two and a half years old when Fernanda had to take her to a local hospital. They were referred to a pediatric neurologist who initially thought she had muscular dystrophy. However, tests showed that she had SMA. Her doctor diagnosed it as type 2 (see sidebar) but on going to a specialist hospital, Beatriz was finally diagnosed by a DNA test with type 3 SMA, a milder form of the condition.

Serious and debilitating

Patients with Spinal Muscular Atrophy (SMA) are usually categorized by having one of four types of the disease.
  • Type 1: This is the most severe form. Symptoms emerge within the first six months of life. Affected infants have low muscle tone, muscle weakness and impaired ability to move. These babies never sit. About half of these children do not survive beyond two years.
  • Type 2: This is an intermediate form. The children are able to sit, but not walk. They have severe and progressive motor disability and often require 24-hour care for their whole life. They often develop scoliosis (severe curvature of the spine).
  • Type 3: These patients experience symptoms between 18 months and early adulthood. They have difficulty walking, muscle weakness and an increased risk of respiratory infections. Many of those with Type 3 SMA lose the ability to walk and can develop severe scoliosis. They are usually wheelchair bound by the age of 40.
  • Type 4: This is the adult form of SMA and is less common. It is characterized by slow progression of the disease. Symptoms emerge after the age of 35.

Happy and sad

Says Fernanda: “Beatriz goes to regular school in the morning. She is in grade two and enjoys it a lot and has many friends.” But the illness has begun to take its toll and she walks with a noticeable limp. She cannot run or stand up on her own and falls frequently. “She is a happy child but on some days she becomes sad and asks us about her problems. She comes back sad from school because her friends didn’t play with her. She is unable to run and jump around as much as the other children. We always talk openly with Beatriz and try to explain things to her.” Since last year she has started psychotherapy sessions.

But Beatriz is a tough cookie. She bounces back soon. And quite literally! Her parents have put up a special trampoline for her to play. She goes to the pool and goes to physiotherapy five times a week.

Fernanda has been a Roche employee since 2005. A pharmacist by training, today she is Quality Assurance Coordinator. She and Acerlan are concerned about the health of their daughter, especially the impaired mobility and scoliosis. “We were initially discouraged and it seemed that nobody was doing anything in this disease area. However, we did not rest and kept on doing everything within our reach to maintain her normal functioning. On hearing about the research going on in this area in my own company gives us hope and confidence,” she states.

An important day for those impacted

Rare Disease Day was launched in 2008 by the European Organization for Rare Diseases (EURODIS) with the objective to raise awareness amongst the general public and decision-makers about rare diseases and their impact. This year’s theme is Day-by-day, hand-in-hand.

It is estimated that about 20-30 million people suffer from rare diseases. Depending on the source and definition, it is believed that there are almost 6,000 such diseases. In the US, a rare disease is defined as one that affects less than 200,000 people. In Japan this category is defined by fewer than 50,000 patients. In Europe, a disease or disorder is defined as rare when it affects less than 1 in 2,000.

Roche has an important pipeline of medicines that are being investigated in this area. In SMA, Roche is developing an SMN2 splicing modifier in its unique collaboration with an another pharmaceutical company and a patient organization, which is in phase Ib development. Roche is developing another investigational medicine, acquired earlier this year. A pivotal phase II clinical trial showed a beneficial effect on maintenance of neuromuscular function and reduction in medical complications in individuals with certain types of SMA. In addition, Roche is working with a partner on a pre-clinical compound in the area of Huntington’s disease.

Tags: Career Blog, Brazil