Recordati has received a boost with the news that advisors to the US Food and Drug Administration have unanimously backed the Italian company’s Carbaglu for a rare genetic blood disorder.

The agency’s Endocrinologic and Metabolic Drugs Advisory Committee has voted 12-0 in support of Carbaglu (carglumic acid) for the treatment of hyperammonaemia due to an autosomal genetic disorder resulting in the deficiency of the liver enzyme N-acetylglutamate synthase (NAGS). A very rare disease, NAGS deficiency involves extremely high plasma levels of ammonia, which leads to permanent and irreversible damage of the central nervous system; it is a lifelong, lifethreatening clinical condition.

Before the panel sat, FDA staffers had expressed concern about drug's study design, although they added that no serious safety issues were found in patients overall. Still they claimed that “clear conclusions about the effectiveness of carglumic acid cannot be made because of the severely limited quantity and quality of the data”.

However that view is not shared by the advisory committee, which described the data as impressive, especially in showing that Carbaglu targets the ammonia levels problem. Panelist Karl Roth, a researcher at MDS Pharma Services, was quoted by Reuters as saying that “the potential usefulness of this drug is phenomenal, This is one way we can salvage some of the children born with NAGS deficiency”.

Recordati’s Orphan Europe Unit had said it has provided "significant proof" of its drug's effectiveness for the condition which currently affects roughly one per 30,000 live births. It noted that Carbaglu's safety profile was "highly acceptable" and would not require any special follow-up but the FDA panellists have recommended that a monitoring system needs to be put in place.

Carbaglu is already available in Europe.