Spark's CSO is wrap­ping up an­i­mal stud­ies on a gene ther­a­py for Pompe dis­ease as new work in the field sees ex­plo­sive growth

When Fed­eri­co Min­gozzi joined Spark Ther­a­peu­tics $ONCE last fall as their new chief sci­en­tif­ic of­fi­cer, he brought along sev­er­al years worth of pre­clin­i­cal work on a new AAV gene ther­a­py for Pompe dis­ease. Now, he’s fin­ish­ing that lyso­so­mal stor­age dis­cov­ery-stage ef­fort with a flour­ish, un­veil­ing late pre­clin­i­cal re­sults for their drug SPK-3006, which they’re now steer­ing to­ward the clin­ic in hopes of prov­ing that they can com­plete­ly sur­pass the pricey en­zyme re­place­ment ther­a­py — and would-be suc­ces­sors in the clin­ic — used to keep pa­tients alive.

It is, with­out a doubt, still ear­ly in the process. But Min­gozzi tells me he’s keen to move on to near-term hu­man stud­ies in search of the first round of proof-of-con­cept da­ta. And you can look for the ri­val­ry among com­peti­tors to heat up fast, as an­oth­er play­er in the field is al­so an­nounc­ing an al­liance with one of the aca­d­e­m­ic pi­o­neers in the field to fo­cus on a new gene ther­a­py for Pompe dis­ease and sev­er­al oth­er rare ge­net­ic ail­ments.

“I’ve been work­ing on that a good 4 years or so,” says the CSO, who had la­bored at IN­SERM and the non­prof­it R&D group Genethon, which out-li­censed the tech to Spark. Over the past year they’ve been re­fin­ing the gene ther­a­py, us­ing a be­nign virus that can de­liv­ery cod­ing for the miss­ing en­zyme, and look­ing at its abil­i­ty to in­crease the GAA pro­tein in plas­ma in mon­keys as they looked to cre­ate a clin­i­cal-stage pro­gram for the com­pa­ny.

Work­ing prop­er­ly, says Min­gozzi, they can turn the liv­er in­to a fac­to­ry for pro­duc­ing the en­zyme, a po­ten­tial once-and-done treat­ment.

In their mouse study re­viewed at the In­ter­na­tion­al Con­gress of the World Mus­cle So­ci­ety in Ar­genti­na, Min­gozzi out­lined the gene ther­a­py’s im­pact on liv­er ex­pres­sion of the GAA en­zyme, the safe­ty pro­file, an abil­i­ty to break down glyco­gen and an im­prove­ment in strength.

The next steps are clear. Spark’s team has to com­plete a GLP tox study, then file the IND and work up a Phase I/II study that can get start­ed next year. From there they are bound for a safe­ty re­view, bio­mark­er ex­am­i­na­tions and will ul­ti­mate­ly, if it all works out, be­gin to clar­i­fy for reg­u­la­tors and pay­ers how durable it is.

In the mean­time, Am­i­cus $FOLD — which has its own Pompe drug — an­nounced plans this morn­ing to al­ly with Penn’s James Wil­son on de­vel­op­ing an AAV gene ther­a­py for Pompe dis­ease, Fab­ry, CD­KL5 and an­oth­er unan­nounced tar­get. Wil­son has been work­ing on AAV tech for decades, and Am­i­cus will add its ex­per­tise on pro­tein en­gi­neer­ing to the cause.

Spark has been the pi­o­neer for gene ther­a­pies in the US, rolling out the first ap­proved pro­gram here for $850,000. The com­pa­ny’s more ad­vanced work in­cludes pro­grams for he­mo­phil­ia, as a grow­ing num­ber of com­pa­nies ad­vance scores of new pro­grams to­ward the clin­ic.

Over the week­end can­cer drug in­vestor Brad Lon­car not­ed that the FDA ex­pects more than 150 gene ther­a­py INDs this year.

The gene ther­a­py race is on.

Im­age: Fed­eri­co Min­gozzi. Uni­ver­si­tat Autòno­ma de Barcelona

Brian Kaspar. AveXis via Twitter

AveX­is sci­en­tif­ic founder fires back at No­var­tis CEO Vas Narasimhan, 'cat­e­gor­i­cal­ly de­nies any wrong­do­ing'

Brian Kaspar’s head was among the first to roll at Novartis after company execs became aware of the fact that manipulated data had been included in its application for Zolgensma, now the world’s most expensive therapy.

But in his first public response, the scientific founder at AveXis — acquired by Novartis for $8.7 billion — is firing back. And he says that not only was he not involved in any wrongdoing, he’s ready to defend his name as needed.

I reached out to Brian Kaspar after Novartis put out word that he and his brother Allen had been axed in mid-May, two months after the company became aware of the allegations related to manipulated data. His response came back through his attorneys.

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We­bi­nar: Re­al World End­points — the brave new world com­ing in build­ing fran­chise ther­a­pies

Several biopharma companies have been working on expanding drug labels through the use of real world endpoints, combing through the data to find evidence of a drug’s efficacy for particular indications. But we’ve just begun. Real World Evidence is becoming an important part of every clinical development plan, in the soup-through-nuts approach used in building franchises.

I’ve recruited a panel of 3 top experts in the field — the first in a series of premium webinars — to look at the practical realities governing what can be done today, and where this is headed over the next few years, at the prodding of the FDA.

ZHEN SU — Merck Serono’s Senior Vice President and Global Head of Oncology

ELLIOTT LEVY — Amgen’s Senior Vice President of Global Development

CHRIS BOSHOFF — Pfizer Oncology’s Chief Development Officer

A premium subscription to Endpoints News is required to attend this webinar. Please upgrade to either an Insider or Enterprise plan for access. Already have Endpoints Premium? Please sign-in below. You can contact our Subscriptions team at with any issues.

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Video: Putting the AI in R&D — with Badhri Srini­vasan, Tony Wood, Rosana Kapeller, Hugo Ceule­mans, Saurabh Sa­ha and Shoibal Dat­ta

During BIO this year, I had a chance to moderate a panel among some of the top tech experts in biopharma on their real-world use of artificial intelligence in R&D. There’s been a lot said about the potential of AI, but I wanted to explore more about what some of the larger players are actually doing with this technology today, and how they see it advancing in the future. It was a fascinating exchange, which you can see here. The transcript has been edited for brevity and clarity. — John Carroll

UP­DAT­ED: As­traZeneca’s Imfinzi/treme com­bo strikes out — again — in lung can­cer. Is it time for last rites?

AstraZeneca bet big on the future of their PD-L1 Imfinzi combined with the experimental CTLA-4 drug tremelimumab. But once again it’s gone down to defeat in a major Phase III study — while adding damage to the theory involving targeting cancer with a high tumor mutational burden.

Early Wednesday the pharma giant announced that their NEPTUNE study had failed, with the combination unable to beat standard chemo at overall survival in high TMB cases of advanced non-small cell lung cancer. We won’t get hard data until later in the year, but the drumbeat of failures will call into question what — if any — future this combination can have left.

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Ted Ashburn. Oncorus

Cowen, Per­cep­tive lead $79.5M Se­ries B for 's­tand­out' biotech shep­herd­ing on­colyt­ic virus to clin­ic

As several Big Pharma players secure biotech partners in the oncolytic virus space for new immuno-oncology combos, Cowen and Perceptive Advisors have come out with their own bet on a startup that promises to shine.

The marquee investors are joining MPM, Deerfield, Celgene, Astellas, Arkin and UBS in backing the drug developer, Oncorus, which will now deploy the $79.5 million in Series B cash toward clinical development of its lead program. Other new investors include Surveyor Capital, Sphera Funds, IMM Investment, QUAD Investment Management, UTC Investment, SV Investment Corp and Shinhan Investment-Private Equity, the last five of which are Korean-based funds.

Fu­til­i­ty analy­sis au­gurs de­feat in piv­otal tri­al test­ing of Nu­Cana's lead drug in metasta­t­ic pan­cre­at­ic can­cer

Nearly two years after making its public debut, UK-based NuCana’s mission to make chemotherapies more potent and safer was dealt a blow, after a pivotal study testing its lead experimental drug halted enrollment in a hard-to-treat advanced form of cancer, following a futility analysis.

The drug, Acelarin, is being evaluated for use in metastatic pancreatic cancer patients who were not considered suitable for combination chemotherapy. In the late-stage ACELARATE study — which compared the experimental drug against the chemotherapy gemcitabine — 200 patients had been enrolled by the sponsor, Clatterbridge Cancer Centre, before an analysis from an independent safety and data monitoring panel suggested the study’s main goal would not be met.

UP­DAT­ED: Pay­back? An­a­lysts say Sarep­ta was blind­sided by an FDA re­jec­tion dri­ven by reg­u­la­to­ry re­venge

In one of the least anticipated moves of the year, the FDA has rejected Sarepta’s application for an accelerated approval of its Duchenne MD drug golodirsen after fretting over safety issues.

In a statement that arrived after the bell on Monday, Sarepta explained the CRL, saying:

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Levi Garraway. Broad Institute via Youtube

Roche raids Eli Lil­ly for its next chief med­ical of­fi­cer as San­dra Horn­ing plans to step down

We found out Monday morning where Levi Garraway was headed after he left Eli Lilly as head of oncology R&D a few days ago. Roche named Garraway as their new chief medical officer, replacing Sandra Horning, who they say is retiring from the company.

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AveX­is sci­en­tif­ic founder was axed — and No­var­tis names a new CSO in wake of an ethics scan­dal

Now at the center of a storm of controversy over its decision to keep its knowledge of manipulated data hidden from regulators during an FDA review, Novartis CEO Vas Narasimhan has found a longtime veteran in the ranks to head the scientific work underway at AveXis, where the incident occurred. And the scientific founder has hit the exit.

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