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Because there is no cure or treatment for HIBM, potential carriers are reluctant to get tested, knowing the outcome is eventually the loss of important muscle function and a wheelchair-bound existence. “You know what’s coming, and in that moment you know there’s nothing you can do to stop it,” Jennifer, now 38 and a mother of two children, said about the disease. “With HIBM, you are constantly having to mourn new losses and look ahead at the future. You can’t ever fully mourn it because it’s always changing.”
A recently launched clinical trial by Ultragenyx Pharmaceutical may offer light at the end of what is now a very dark tunnel. The Ultragenyx trial is a double-blind study of 46 participants, testing the potential of sialic acid on muscle activity. Though the study, conducted in coordination with experts in Japan and Israel, is still in the second stage of a three-phase trial, an interim analysis after 24 weeks showed some improvement in muscle strength, particularly in the upper extremities. No changes were noted in the lower extremities.
“The reality of it is that these things are developments,” explained John Ditton, vice president at Ultragenyx. “What we’re trying to do with HIBM is say ‘Let’s put one foot forward here.’”
Still, the best bet for eradicating the disease remains genetic counseling and prenatal screening, which allow carriers and affected people options and awareness.
Several large medical institutions — one in Israel, one in Los Angeles and one in New York — offer prenatal testing for HIBM and certain other so-called Sephardic or Mizrachi Jewish genetic diseases. Prior to 2010, any tests for HIBM had to be sent to Hadassah Hospital in Israel, where Dr. Zohar Argov first identified the condition. Later, together with Dr. Stella Mitrani-Rosenbaum, Argov also identified the specific gene mutation that caused the condition.
Argov discovered the disease by chance in 1979, when as a young doctor he saw a patient who supposedly had muscular dystrophy. He found the man in a wheelchair, with his granddaughter sitting on his extended legs — an unlikely position for someone with that condition. Intrigued, Argov started hunting for similar cases. “The more I looked, the more I found. I noted that more and more of these people have this unique phenomenon and they’re all Persian Jews.”
In 1994 he joined forces with Mitrani-Rosenbaum, and in 2001 her lab discovered the gene mutations causing the condition. Then, Argov noted something peculiar: Researchers in other countries had documented similar cases, without connecting the dots. “It turned out that it’s not unique to Persian Jews,” he said. “It exists worldwide with other mutations.”
In 2006, Jennifer’s mother founded the Neuromuscular Disease Foundation to raise awareness of HIBM and fund research. In 2012, the foundation gave $200,000, raised through its annual gala, to Argov and Mitrani-Rosenbaum’s lab.
Yet comprehensive screening for the disease has been slow in coming. In 2009, Cedars-Sinai Hospital in Los Angeles launched a pilot program to test people for four recessive diseases that are found at elevated frequencies among Jews from Iran.