January 9, 2013
Doctor makes the case for a GSD cure
Dr. David A. Weinstein was working as a resident at Boston Children’s Hospital in 1994 when he encountered his first young patients with glycogen storage disease (GSD). He followed up on these and other cases and was asked to report on his findings at a GSD conference in 1998.
GSD is a rare disease, subdivided into 14 categories. Jonah Pournazarian’s type (see main story) is classified as 1b and primarily affects the liver. Fewer than 100 cases of this type have been identified in the United States.
“I was shocked at what I saw,” Weinstein said in a phone interview from his office at the University of Florida, Gainesville. “There had been no significant clinical advances in the field in 16 years, and there was no research going on. … Worst of all, there was no real hope for the kids’ survival. I myself had a 14-month-old son at home who was the same age as the patients I was meeting, and I decided that someone had to care about these GSD babies.”
Following the conference, Weinstein created a research project at Harvard Medical School and became director of its GSD program. In 2005, he accepted an invitation from the University of Florida, Gainesville, to head what has become the largest GSD treatment and research program in the world.
One inducement for the move was University of Florida’s large veterinary program. Like humans, dogs get GSD and generally die of the disease within hours. Even with medical treatment, the longest survival period at the time was 28 days. Weinstein has prolonged the dogs’ lives through gene therapy, and many are now surviving with the disease.
Some of the dogs have even stopped therapy and remain healthy after almost five years. On the basis of this record, Weinstein expects to start trials in humans when the federal Food and Drug Administration gives its approval. Simultaneously, he is investigating stem cell therapy in mice.
“My ultimate goal is to cure GSD,” Weinstein, 44, said. But at this point, he and his staff are focusing on development of a treatment to allow patients to sleep longer by lengthening intervals between cornstarch feedings, now mandatory every three to four hours around the clock. The prescribed cornstarch dosage is administered through a surgically implanted feeding tube.
Weinstein treats and investigates all seven types of GSD that damage the liver, but his focus is on type 1a, which affects mainly Jewish children of Ashkenazi descent, and type 1b; Jonah has the latter kind, which is so rare that it is difficult to pinpoint a specific ethnicity among patients.
The disease’s low incidence makes it difficult to catch the attention of the medical profession. “On average, I would say that medical schools devote about 15 minutes teaching their students about GSD,” Weinstein said. “There are thousands of rare diseases, and you can’t train future doctors in all of them.”
For the same reason, getting funds for GSD treatment and research is a constant struggle. Weinstein has received some support from the federal National Institutes of Health, but none for type 1b work, and he relies almost entirely on private donations.
He credits the Jewish community in Los Angeles and Southern California for the bulk of support for his type 1b work, especially through the Jonah Pournazarian Fund set up by Jonah’s parents. The fund has raised $410,000.
Weinstein sees about 425 patients a year from across the United States and the world, including from Israel and various Muslim countries.
In the next few months, the doctor will take a short break from his 16-hour workdays to travel to Poland for induction into the Order of the Smile, whose members are nominated by children around the world to honor adults “distinguished for their love, care and aid for children.” Past and present knighted members include Pope Paul John II, Mother Teresa, Holocaust heroine Irena Sendler and Nelson Mandela. Weinstein’s nomination was backed by 200 letters from children from 30 countries.
This year, he is also scheduled to visit Israel twice, to check up on his six patients there and to meet and instruct doctors at the Sheba Medical Center, Hadassah Hospital and other venues.
Medical scientists are usually a cautious lot, but Weinstein is notably upbeat about the future outlook for GSD patients.
Two of his type 1b child patients are now grown up, married and have healthy children of their own, he said, adding, “I expect Jonah to do very well.”
To donate to the Jonah Pournazarian Fund to Support Glycogen Storage Disease 1B research via cell phone, scan this QR code.