Ricki Lewis

In these strange days of the pandemic, it's easy to forget that people are still sick with the illnesses that we've always faced – and not just the common ones like cardiovascular disease and cancer. Times are particularly tough for the millions of people who have rare diseases.

 

Research continues into developing new treatments for rare diseases, despite the current difficulties, with some recent good news. But first, a setback.

 

Hemophilia A: Two More Years of Data Needed

 

On August 18, FDA ruled that a submission for approval of a gene therapy to treat severe hemophilia needs another two years of evidence to demonstrate that the treatment is really a "one-and-done." The agency is seeking data demonstrating "a durable effect using Annualized Bleeding Rate," a metric that the developer, Biomarin, claims had not been brought up prior to submission of the phase 3 findings.

 

Perhaps the extra scrutiny reflects the fact that treatment has been available since 1992 –recombinant clotting factor VIII. And gene therapy has been in the works for awhile. In fact, I interviewed the very first patient to receive gene therapy for hemophilia A, back in 1999. That trial used the same dangerous vector, a retrovirus, to deliver the gene that would kill Jesse Gelsinger later that year and derail the entire field.

 

 

To continue reading, go to DNA Science, where this post first appeared.

On November 1, Laura King Edwards’s inspiring book “Run To The Light” will be published, by Bedazzled Ink.

The memoir is an astonishing tale of a sister’s love and how she is coping with a tragic and inevitable future for her younger sibling. It’s also the tale of how one family’s activism has led to a gene therapy in development to treat Taylor’s inherited neurological condition.

The book is also about running – blindfolded.

“Run to the Light” sets up the story in just the second sentence: “We found out my little sister was dying on a parched morning in the summer of 2006, just a few weeks shy of her eighth birthday and a month after my wedding.”

To continue reading go to DNA Science Blog, where this post first appeared. Read More 

I have followed, in awe, the tireless efforts of families that have rare genetic diseases to raise awareness and funds.

Bake sales and bike races, balls and raffles, exhausting and all-consuming. But these efforts pale when a performer or other famous rich person suddenly and explosively steps up to support such a disease, solely because someone they know has just been diagnosed. As if dozens of families haven’t already been trying to fund clinical trials for years. Last summer’s "ice bucket challenge" was the epitome of the power of viral social media, with the message about ALS lost in the excitement.

When celebrities suddenly care about rare diseases, I wonder what my friends in the rare disease community think. They’re happy, of course, at the attention, yet perhaps a bit unglued by the power of the famous – but maybe afraid to say so.

That happened recently for Batten disease, a devastating group of brain disorders that strike in childhood. One family isn’t afraid to speak out.

Two years ago my blog DNA Science gave a voice to Laura King Edwards, who has been running races in all 50 states in honor of her 16-year-old sister Taylor, who has Batten disease. Laura updated a year ago.

This year, she and her mother Sharon King share their thoughts about last week’s avalanche of concern for the disease that is taking Taylor away.  Read More 

As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast cancer.

HOW RARE IS RARE?
According to the National Organization for Rare Disorders, “rare disease” in the U.S. means affecting fewer than 200,000 people. These conditions number about 6,800, collectively affecting nearly 30 million Americans or 1 in 10 people.

Many are single-gene diseases. That means that the chance of more than one family member being affected is quite high (see Mendel's first law). Unlike those, most (>90%) cases of ALS and breast cancer aren’t inherited as single-gene traits, but are sporadic. Mutations happen during a person’s lifetime in somatic cells, perhaps due to an environmental trigger. A family with one member who has ALS wouldn't have as great a chance as it affecting another as a family with Huntington disease, for example.

With so many causes of rare diseases, comparing statistics is an apples-and-oranges exercise. But I collected a few anyway, for prevalence (the percentage of a population with a particular disease at a given time). Read More