Breakthrough drug for rare genetic disease

NEW HAVEN, Conn. (WTNH)– There’s new therapy for a rare, devastating, life-threatening genetic disorder. Gaucher Disease affects one in 40,000 to 60,000 people, and is often misdiagnosed. Early diagnosis leads to early treatment, which now includes the first- line oral medication, and prevention of dangerous complications.

Tamara Ciocci was just 18-months-old when she broke her hip.

“At the time it was written off as a really freak accident,” said Ciocci.

Years of chronic bone pain, weakened immune system, and an enlarged liver and spleen baffled doctors.

“They would speculate maybe its an autoimmune disease, maybe it’s arthritis, some people thought I had leukemia,” said Ciocci.

Finally came the diagnosis of Gaucher Disease, a rare inherited condition due to a defective enzyme whose job is to break down fatty substances.

“And when the enzyme is low, the lipid material that is normally broken down by this cell begins to accumulate in cells of the body,” said well-known specialist Dr. Pram Mistry at Yale-New Haven Hospital.

In Ciocci’s case, it led to an abnormal size spleen and liver, 20-times larger than normal, and a bone marrow not making new blood cells.

The FDA recently approved the first-line oral drug for Gaucher. Dr. Mistry, lead investigator of a clinical trial that investigated the drug Cerdelga, is now able to offer it to patients like Ciocci.

“This is a drug that reduces the amount of lipid that accumulates Gaucher Disease by inhibiting its production and uniquely this is a treatment that affects all cell types of the body,” said Dr. Mistry.

Now the size of Ciocci’s spleen and liver has shrunk considerably. The drug is a welcomed treatment after 20 years of enzyme replacement every two weeks.

“They would say I don’t know if she’s going to make it to 30, then I don’t know if she’s going to make it to 40, then with enzyme replacement and now Cerdelga, it has rewritten where I am at now,” said Ciocci, a wife and mother of two.

“In spite of cycles of fatigue and bone pain, I would say overall I’m doing a lot better and I feel that I’m a lot more present in my life,” said Ciocci.

A complication of Gaucher is that patients can go onto develop blood cancers, notably multiple myeloma. Dr. Mistry added that this particular drug will help lower the risk of that happening, and the research behind Gaucher has provided medical science with a road map for treating other diseases.

For more information about Gaucher Disease, click here.

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