Aro­mat­ic amino acid de­car­boxy­lase (AADC) de­fi­cien­cy is an ul­tra-rare ge­net­ic dis­ease that leaves pa­tients un­able to pro­duce cer­tain hor­mones in the brain, such as dopamine and sero­tonin, usu­al­ly lead­ing to de­vel­op­men­tal de­lays, weak mus­cle tone and in­abil­i­ty to con­trol the move­ment of the limbs. It can al­so lead to mul­ti­ple or­gan fail­ure.

To date, there have been no treat­ments ap­proved for AADC de­fi­cien­cy, which has been iden­ti­fied in less than 150 pa­tients.

But now, New Jer­sey biotech PTC Ther­a­peu­tics is one step clos­er to get­ting its gene ther­a­py ap­proved in the EU. The Eu­ro­pean Med­i­cines Agency an­nounced ear­li­er to­day that it would rec­om­mend grant­i­ng a mar­ket­ing au­tho­riza­tion for the one-time gene ther­a­py Up­staza, giv­ing it the “ex­cep­tion­al cir­cum­stances” moniker.

That moniker is giv­en to a type of mar­ket­ing au­tho­riza­tion grant­ed to med­i­cines where the ap­pli­cant is “un­able to pro­vide com­pre­hen­sive da­ta on the ef­fi­ca­cy and safe­ty un­der nor­mal con­di­tions of use, be­cause the con­di­tion to be treat­ed is rare or be­cause col­lec­tion of full in­for­ma­tion is not pos­si­ble or is un­eth­i­cal,” ac­cord­ing to the EMA.

Da­ta come from three tri­als that had en­rolled a com­bined 28 chil­dren. The main fa­vor­able ef­fects at­tained by the par­tic­i­pants in the study were head con­trol and the abil­i­ty to sit unas­sist­ed, the EMA said, adding that con­sul­tants agreed that mean­ing­ful ef­fi­ca­cy was demon­strat­ed in the tri­als

The agency’s CHMP com­mit­tee al­so has asked PTC to sub­mit da­ta show­ing both long-term ef­fi­ca­cy and safe­ty in pa­tients en­rolled in clin­i­cal tri­als based on a 10-year fol­low up and a glob­al reg­istry-based safe­ty study. In the mean­time, an­oth­er EMA com­mit­tee, the Com­mit­tee for Ad­vanced Ther­a­pies, said that the ben­e­fits of Up­staza out­weigh the pos­si­ble risks in pa­tients with AADC de­fi­cien­cy. The most com­mon side ef­fects were el­e­vat­ed body tem­per­a­ture and in­vol­un­tary, er­rat­ic move­ments, known as dysk­i­ne­sia.

Af­ter an au­tho­riza­tion is grant­ed — PTC said in a state­ment it was ex­pect­ing a de­ci­sion in ap­prox­i­mate­ly two months — the next big ques­tion that EU mem­ber states and PTC will face is the price. Gene ther­a­pies, es­pe­cial­ly ones pro­mot­ed to be a one-treat­ment cure, have shown to be ex­treme­ly cost­ly. No­var­tis’s Zol­gens­ma, a gene ther­a­py for a spe­cif­ic type of spinal mus­cu­lar at­ro­phy, owns the du­bi­ous dis­tinc­tion of most ex­pen­sive drug in the world, cost­ing be­tween $1.8 mil­lion and $2.1 mil­lion per pa­tient.

The FDA’s Vaccine and Related Biological Products Advisory Committee on Tuesday gave the thumbs up — by a vote of 19-2 — that the FDA should require an Omicron-related component in this next season’s booster dose for Covid-19, which both Pfizer/BioNTech and Moderna are hard at work on.

And while neither booster will likely be ready to go with adequate supplies for all American adults by the beginning of the next school year, the situation is still complex and fluid, with CBER Director Peter Marks telling the committee that it’ll take companies at least three months to ready their supplies for this expected next wave.

As Astellas continues its drive to build out its gene therapy portfolio and capabilities, a subsidiary of the Japanese pharma company has entered into a collaboration with a little-known Pittsburgh biotech.

Astellas-owned Mitobridge and Generian Pharmaceuticals announced on Wednesday that they will work together in a new deal for “undruggable” protein targets. Generian will net an undisclosed upfront payment and could get up to $180 million in milestones, should anything from its platform prove successful, as well as single-digit royalties on global net sales.

Three months separated from a disappointing readout of its Covid-19 vaccine, Icosavax is back with what it calls positive topline data for a different VLP vaccine candidate — although investors aren’t impressed.

IVX-121, a vaccine candidate for respiratory syncytial virus (RSV), appeared to generate “robust” immune responses among both young and older adults, as measured by neutralizing antibodies, and appeared generally well-tolerated, Icosavax reported.

As the House-passed bill to cap the monthly price of insulin at $35 nationwide makes its way for a Senate vote soon, Sanofi announced Wednesday morning that beginning next month it will cut the monthly price of its insulins for uninsured Americans to $35, down from $99 previously.

The announcement from Sanofi, which allows the uninsured to buy one or multiple Sanofi insulins (Lantus, Insulin Glargine U-100, Toujeo, Admelog, and Apidra) at $35 for a 30-day supply effective July 1, follows House passage (232-193) of the monthly cap in March, with just 12 Republicans voting in favor of the measure.