Study: HIV in gene ther­apy used to fix ‘bub­ble boy dis­ease’

Chicago Tribune (Sunday) - - OBITUARIES - By Mar­i­lynn Mar­chione

They were born with­out a work­ing germ-fight­ing sys­tem, ev­ery in­fec­tion a threat to their lives. Now eight ba­bies with “bub­ble boy dis­ease” have had it fixed by a gene ther­apy made from one of the immune sys­tem’s worst en­e­mies — HIV, the virus that causes AIDS.

A re­cently re­leased study de­tails how sci­en­tists turned this en­emy virus into a sav­ior, al­ter­ing it so it couldn’t cause dis­ease and then us­ing it to deliver a gene the boys lacked.

“This ther­apy has cured the patients,” although it will take more time to see if it’s a per­ma­nent fix, said Dr. Ewelina Mam­carz, one of the study lead­ers at St. Jude Chil­dren’s Re­search Hos­pi­tal in Mem­phis, Tenn.

Omar­ion Jor­dan, who turns 1 this month, had the ther­apy in De­cem­ber to treat se­vere com­bined im­mun­od­e­fi­ciency syn­drome, or SCID.

“For a long time we didn’t know what was wrong with him. He just kept get­ting th­ese in­fec­tions,” said his mother, Kristin Simp­son. Learn­ing that he had SCID “was just heart­break­ing I didn’t know what was go­ing to hap­pen to him.”

Omar­ion now has a nor­mal immune sys­tem.

“He’s like a nor­mal, healthy baby,” Simp­son said. “I think it’s amaz­ing.”

Study re­sults were pub­lished by the New England Jour­nal of Medicine. The treat­ment was pi­o­neered by St. Jude Dr. Brian Sor­rentino, who re­cently died.

SCID is caused by a ge­netic flaw that keeps the bone mar­row from mak­ing ef­fec­tive ver­sions of blood cells that com­prise the immune sys­tem. It af­fects 1 in 200,000 new­borns, mostly males. With­out treat­ment, it of­ten kills in the first year or two of life.

“A sim­ple in­fec­tion like the com­mon cold could be fa­tal,” Mam­carz said.

The nick­name “bub­ble boy dis­ease” comes from a fa­mous case in the 1970s — a Texas boy who lived for 12 years in a pro­tec­tive plas­tic bub­ble to iso­late him from germs. A bone mar­row trans­plant from a ge­net­i­cally matched sib­ling can cure SCID, but most peo­ple lack a suitable donor. Trans­plants also are med­i­cally risky — the Texas boy died af­ter one.

Doc­tors think gene ther­apy could be a so­lu­tion. It in­volves re­mov­ing some of a patient’s blood cells, us­ing the mod­i­fied HIV to in­sert the miss­ing gene, and re­turn­ing the cells through an IV. Be­fore get­ting their cells back, patients are given a drug to de­stroy some of their mar­row so the mod­i­fied cells have more room to grow.

When doc­tors first tried it 20 years ago, the treat­ment had un­in­tended ef­fects on other genes, and some patients later de­vel­oped leukemia. The new ther­apy has safe­guards to lower that risk.

A small study of older chil­dren suggested it was safe. The new study tried it in in­fants, and doc­tors are re­port­ing on the first eight who were treated at St. Jude and at UCSF Be­nioff Chil­dren’s Hos­pi­tal San Fran­cisco.

Within a few months, nor­mal lev­els of healthy immune sys­tem cells de­vel­oped in seven boys. The eighth needed a sec­ond dose of gene ther­apy but now is well, too. Six to 24 months af­ter treat­ment, all eight are mak­ing all the cell types needed to fight in­fec­tions, and some have suc­cess­fully re­ceived vac­cines to fur­ther boost their im­mu­nity to dis­ease.

No se­ri­ous or last­ing side ef­fects oc­curred.

Omar­ion is the 10th boy treated in the study, which is on­go­ing. It’s sponsored by the Amer­i­can Lebanese Syr­ian As­so­ci­ated Char­i­ties, the Cal­i­for­nia In­sti­tute of Re­gen­er­a­tive Medicine, the As­sisi Foun­da­tion of Mem­phis and the fed­eral gov­ern­ment.

“So far it re­ally looks good,” but patients will have to be stud­ied to see if the re­sults last, said Dr. An­thony Fauci, head of the Na­tional In­sti­tute of Al­lergy and In­fec­tious Dis­eases, which helped de­velop the treat­ment. “To me, this looks promising.”

Rights to it have been li­censed by St. Jude to Mus­tang Bio. Doc­tors say they have no es­ti­mate on what it might cost if it does be­come an ap­proved treat­ment.

PETER BARTA/ST. JUDE CHIL­DREN'S RE­SEARCH HOS­PI­TAL

Gian­nina Alva holds her son, Gael Je­sus Pino Alva, one of eight chil­dren with "bub­ble boy dis­ease" who have had it fixed. “This ther­apy has cured the patients,” a doctor says.

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