Case Studies

 Zolgensma (onasemnogene abeparvovec-xioi) for Spinal Muscular Atrophy (SMA).  Zolgensma is a gene therapy developed for treating spinal muscular atrophy (SMA), a rare genetic disorder characterized by loss of motor neurons, leading to muscle weakness and atrophy. SMA primarily affects infants and young children.  Novartis provided preclinical evidence demonstrating that the therapy could address the genetic cause of SMA by delivering a functional copy of the SMN1 gene via a viral vector (AAV9).  The therapy was considered to provide a significant advantage over existing treatments by offering a potentially curative approach rather than symptomatic management.  The company submitted epidemiological data showing the prevalence of SMA and its subtypes, supported by data from patient registries and peer-reviewed publications.  Zolgensma received Orphan Drug Designation (ODD) in 2016. This designation facilitated its development through regulatory incentives such as tax credits for clinical testing, waiver of application fees, and 7 years of market exclusivity post-approval. 

A biotechnology startup developing a gene therapy for a rare neurological condition needed to conduct a GLP-compliant preclinical study but lacked internal expertise and faced tight deadlines. GLP compliance was crucial to securing further funding, and any delays or compliance issues could jeopardize the project's viability.

We provided tailored GLP training to the client’s team and their contract research organization, ensuring all stakeholders understood regulatory expectations. By developing a comprehensive study protocol, conducting audits, and ensuring data integrity throughout the study, we guided the client to successful completion. The study passed FDA inspections without findings, enabling the client to move forward with their IND application. This proactive approach saved the client 3 months of potential rework or reinspection time, avoiding an additional $250,000 in re-study costs and potential funding delays.

A global pharmaceutical company developed an innovative oral treatment for a chronic inflammatory disease but faced challenges presenting the complexity of its mechanism of action and benefit-risk profile in its NDA. The company needed expert guidance to navigate the regulatory submission and ensure all clinical and CMC (chemistry, manufacturing, and controls) data met FDA requirements.

We assisted the client in drafting the clinical and CMC sections of the NDA and facilitated pre-NDA meetings with the FDA to address potential concerns early. Our expertise ensured the submission was comprehensive and aligned with regulatory expectations. As a result, the NDA was approved in the first review cycle, saving the client 12 months of potential resubmission time and an estimated $2 million in costs related to extended clinical trial timelines and manufacturing scale-up.

A biotech company with a promising monoclonal antibody therapy for aggressive cancer sought Breakthrough Therapy Designation to expedite its development timeline. However, the company needed to demonstrate the therapy’s transformative potential and meet stringent regulatory requirements to qualify.

We compiled compelling clinical data highlighting the therapy's superiority over existing treatments and drafted a strong designation request emphasizing its potential to address unmet medical needs. Our strategic communication with the FDA ensured all concerns were addressed effectively. The Breakthrough Therapy Designation accelerated the development timeline by 18-24 months, saving the company an estimated $5 million in clinical trial costs and allowing them to secure investor confidence earlier.

 Kalydeco (ivacaftor) for Cystic Fibrosis (CF) with Specific Mutations  Kalydeco is a small-molecule drug targeting the G551D mutation in the CFTR gene, which accounts for about 4% of cystic fibrosis cases in the U.S.  While cystic fibrosis as a whole affects more than 200,000 individuals, the G551D mutation subset qualifies as a rare disease subset. The FDA accepted the argument that Kalydeco targets this subset specifically.  Vertex Pharmaceuticals provided data showing ivacaftor's mechanism of action as a CFTR potentiator that enhances chloride transport in cells with the G551D mutation, improving lung function and other symptoms.  Before Kalydeco, no treatments directly addressed the underlying genetic defect for patients with the G551D mutation.  Clinical trial results demonstrated significant improvement in lung function (FEV1) and quality of life for patients with the mutation compared to placebo.  Kalydeco received Orphan Drug Designation for CF patients with the G551D mutation in 2012. This enabled regulatory and financial benefits that supported its approval and subsequent expansion to other CFTR mutations. 

A mid-sized medical device company developed a cutting-edge orthopedic implant but faced challenges proving substantial equivalence to a predicate device. The novel design and material composition required extensive evidence, including biocompatibility and mechanical performance testing, to address regulatory concerns. The company lacked experience in structuring a successful 510(k) submission, placing the product's market entry timeline at risk.

We conducted a comprehensive gap analysis, identified key documentation and testing deficiencies, and developed a robust regulatory strategy. Our team managed the entire submission process, responded to FDA inquiries promptly, and ensured that the client's risk management documentation met regulatory expectations. By streamlining the submission process, the client saved approximately 6 months in submission preparation and FDA review time and reduced costs by an estimated $500,000, including avoided delays in manufacturing and market launch.