These success stories exemplify how REMEDi4ALL is helping patient groups, researchers, funders and industry partners overcome challenges and advance promising treatment opportunities towards patient benefit.
- Ultra-rare disease trial for a research foundation
- Research collaboration driven by a patient’s family
- Market access and regulatory support for an academic researcher
- Portfolio analysis for multiple organisations
Ultra-rare disease trial for a research foundation
Facilitated access to proprietary pharma data to bring a repurposed—but not previously approved–drug product into clinical trials – saving years and millions of euros.
Problem
One of REMEDI4ALL’s first projects focused on multiple sulfatase deficiency (MSD), an ultra-rare condition which can lead to severe lysosomal storage disease. This project aims to repurpose tazarotene, a generic drug substance only ever approved as a topical cream for acne and psoriasis, whereas children living with MSD would require an orally formulated drug product.
As it happens, an oral formulation of tazarotene had already been developed by Allergan decades ago and had been shown to be safe through to Phase 3 clinical trials in over 1400 patients for a different indication. Ultimately, though, this drug was not taken to market approval for commercial reasons.
Solution
Working closely with both scientists and patient families in the project team, REMEDi4ALL opened a dialog with senior leadership at AbbVie (the current owners of Allergan) and established a cooperative agreement with AbbVie/Allergan to access efficacy, safety and drug development data, including drug manufacturing information, for oral tazarotene.
Results
Access to these data saved millions of euros and years of work because the project is now able to proceed directly to Phase 2 proof-of-concept studies in MSD patients without having to repeat the clinical safety and dosing studies required by EMA/FDA.
Alan Finglas, the parent of a child with MSD, received the 2024 WORLDSymposium Patient Advocate Leader award for his efforts in establishing MSD Action Foundation & SavingDylan.com and reshaping the landscape of MSD research, including the pivotal role he played in initiating and championing this project.
Research collaboration driven by a patient’s family
Built a partnership of researchers and institutions to launch a drug-screening strategy for rare neurodevelopmental disorder that may also have implications for pediatric brain cancer.
Problem
Patients, patient families and disease research organisations regularly approach REMEDi4ALL for help and guidance in developing new treatments, including via repurposing of approved drugs or repositioning drug candidates that have already gone through clinical safety evaluation. With over 7,000 rare diseases already known but without approved treatments, there is a lot of work that needs to be done.
Solution
In the case of the rare neurodevelopmental disorder DDX3X syndrome, REMEDi4ALL created a project team after a patient’s father contacted us through the REMEDi4ALL Concierge portal. The internal REMEDi4ALL team included a range of drug discovery and computational scientists who coordinated with key academic researchers from around the world and a DDX3X research foundation based in the US. Together, we developed a discovery strategy to screen all of the over 5,000 drugs that have been approved or cleared for clinical safety evaluation by the EMA and FDA to evaluate their potential clinical benefit in DDX3X.
Results
REMEDi4ALL consortium partners will perform the initial drug repurposing/repositioning screen and follow-on validation studies in close consultation with the broad research team and network. If we identify an existing drug with a good safety profile the project could progress rapidly into a Phase 2 proof-of-concept trial in DDX3X patients, similar to path for tazarotene in MSD (see above).
Intriguingly, many of the gene mutations that lead to DDX3X syndrome are also found in cases of pediatric medulloblastoma. Thus, drug candidates emerging from this screen could have implications for childhood brain cancers as well as DDX3X syndrome.
Market access and regulatory support for an academic researcher
Supported an academic team through regulatory review and brokered an agreement with a manufacturer to register a new use for an existing drug to treat a life-threatening condition.
Problem
Academic clinical studies can be key in providing proof-of-concept for repurposing approved drugs or repositioning clinical stage drug candidates. However, if these studies are conducted independently from the companies that manufacture or own the drugs in question, they may not lead directly to the approval of new treatment options for patients. In fact, in most countries only a current manufacturer of a drug (the “market authorization holder” or MAH) is allowed to submit for regulatory approval the addition of a new indication for an existing drug. (New legislation may change this situation in EU in the coming years.)
Solution
To address this, the European Medicines Agency (EMA) together with the European Heads of Medicines Agencies (HMA) launched a pilot programme called STAMP (Safe and Timely Access to Medicines for Patients) in 2019. The goal of the programme was to help close the gap between academia and industry in demonstrating new uses for existing drugs and facilitate a path to regulatory approval. In Spain, the STAMP programme has already enabled the successful repurposing of the imaging agent iohexol to determine glomerular filtration rate (Bouygues et al. 2025, Nature Reviews Drug Discovery).
REMEDi4ALL worked closely with its consortium partner Medicines for Europe on behalf of another STAMP pilot project. First, REMEDi4ALL’s regulatory experts collaborated with the academic team to appropriately “package” the existing academic trial data for EMA review via two rounds of Scientific Advice. Next, we successfully matched the academic research team with one of the current MAHs of the drug to discuss sponsoring this generic oncology drug for approval to treat a life-threatening rare immune disorder.
Results
The positive feedback received from EMA through Scientific Advice served to “de-risk” the project sufficiently for the MAH to have confidence in the project. We were then able to establish a collaborative agreement with the MAH who will submit for drug label-extension approval and registration of the repurposed indication across all 27 EU member states.
Portfolio analysis for multiple organisations
Optimised translational and business strategies for dozens of projects in the portfolios of multiple funding organisations.
Problem
Many disease research charities and funders do not have deep enough resources to fully consider translational pathways and regulatory challenges in their proposal evaluations. This makes it difficult for funders to evaluate—and improve—the likelihood of clinical success of project proposals.
Solution
REMEDi4ALL has worked with several organizations to help streamline research and development plans and improve the chances that funded projects will be successful. We engage at all stages of the research proposal process, from developing funding calls through scientific review and project design and execution.
Results
We have helped our partners optimise translational and business strategies for their research programs and project portfolios overall.
