Introduction

The EJP RD is implementing a new funding scheme, focused on high added value in the field of therapeutic development, in order to promote and facilitate active collaboration between academia, Small and Medium-sized Enterprises (SMEs), Patients Advocacy Organisations (PAOs) and Industry: the Rare Diseases Research Challenges (RDR Challenges) scheme.

Five industry partners (Chiesi, CSL Behring, Cydan, Ipsen, Pfizer) eventually committed themselves as sponsors of the RDR Challenges.

Aim

The main objectives of the RDR Challenges are to: i. Solve specific research challenges in the field of therapeutic development for rare diseases; ii. Facilitate and fund collaborative projects between industry, academia, SMEs and PAOs.

RDR Challenges

Challenge 1: Development of a non-invasive tool for measuring rare disease patient mobility in daily living

INDUSTRY SPONSOR. Chiesi Farmaceutici S.p.A. (Italy), CSL Behring (Australia)

AIM. To develop a set of coordinated non-invasive tools for measuring rare disease patient general movements distinguishing between voluntary and involuntary movements (e.g. by distributing movement-sensors in patients' home, on their body, on the wheelchair, etc.)

EXPECTED EXPERTISES. SME in the field of mobile health technologies is the perfect target, in particular in the selection and/or adaptation of existing technologies in the field of sensors and in the integration of data. People able to generate software for integration of data are also necessary. Consortium members should be able to offer expertise and support for facilitating patient involvement in the project.

Challenge 2: Delivery system for intranasal administration of biological drugs to neonates

INDUSTRY SPONSOR. Chiesi Farmaceutici S.p.A. (Italy)

AIM. To develop a delivery system allowing administration of liquids or gels in nostrils of the neonates for intranasal (IN) administration of biological drugs.

EXPECTED EXPERTISES. Biomedical devices, biologics drug product formulation is preferred (especially if developed in neonatology therapeutic area). Optimal IN devices should not harm the nasal mucosal surface while ensuring reproducibility of drug administration and avoiding drug loss in the nasal mucus/cavity.

Challenge 3: Characterize Rare Bone Disorders (RBD) Mobility Challenges in Real World Setting

INDUSTRY SPONSOR. Ipsen

AIM. Develop full-body automated mobility assessment tool(s) to assess real-life mobility challenges in people living with RBD, to be compared vs available disease specific patient- and Health Care Professionals (HCP)-reported mobility assessments. Capturing these real-life data could help determine if patient characteristics or environmental conditions could be used to predict mobility outcomes and therefore open possibilities for preventive or corrective interventions, including home and assistive devices design.

EXPECTED EXPERTISES. Academic researchers working in the field of RBD. Involving PAO is mandatory. SME and academic researchers working in the field of mobile health technologies. Involvement of architects and designers (with or without expertise in assistive devices development).

Challenge 4: Pre-clinical assay to detect instability of microsatellite repeat expansions

INDUSTRY SPONSOR. Pfizer, Cydan

AIM. To develop and validate an assay for screening genes and/or compounds that modulate instability of microsatellite repeats. The rarity of repeat expansion/contraction events, estimated to be <1 per 10,000 DNA molecules, creates many challenges for assay development. The goal of this proposal is to devise, implement, and validate an assay that displays the robustness and sensitivity to detect repeat expansion/contraction events after ≤1 week of compound treatment. The assay should utilize a read-out that is suitable for a mid-scale screen of 100s to thousands of compounds in dose response. If such an assay is developed, it will be transferred to Pfizer for further characterization and validation.

EXPECTED EXPERTISES. Knowledge of the biology of repeat expansion diseases. Experimental methods used to study genomic instability and/or DNA repair at the cellular and/or molecular level. Access to reagents and instrumentation that is compatible with small molecule screening.

Eligibility

Partners belonging to one of the following categories may request funding under a joint proposal:

• academia (research teams working in universities, other higher education institutions or research institutes)
• clinical/public health sector (research teams working in hospitals/public health and/or other health care settings and health organisations)
• small and medium-sized enterprises (SMEs)
• patient advocacy organisations

Form the following countries:

Armenia; Austria; Belgium; Bulgaria; Croatia; Czech Republic; Denmark; Estonia; Finland; France; Georgia; Germany; Greece; Hungary; Ireland; Israel; Italy; Latvia; Lithuania; Luxembourg; Malta; Norway; Poland; Portugal; Romania; Serbia; Slovakia; Slovenia; Spain; Sweden; Switzerland; The Netherlands; Turkey; United Kingdom.

Consortium

Only transnational networks will be funded. The consortium submitting an application for a RDR Challenge budget must involve a minimum of two eligible applicants (researchers and/or health care professionals and/or SME(s) and/or patient advocacy organization(s)) from at least two different countries participating in the EJP RD at the time of the application (see Annex 2A). The Industry sponsors does not count in the total number of applicants. The maximum number of eligible applicants in an applying consortium is six applicants. It is mandatory to contact industry sponsors before submitting a proposal.

Consortia of applicants are strongly advised to include patient representatives and patient advocacy organizations (PAOs), which are eligible to receive funding for their activities. If patient involvement is not deemed appropriate within a research project, this should be explained and justified. Involving PAO is mandatory for Challenge 3 'Characterize Rare Bone Disorders (RBD) Mobility Challenges in Real World Setting'.

Duration

The maximum duration of the project is 30 months, with first milestones/deliverables at 18 months.

Budget

Budget The maximum budget that can be requested is:

575.000€ for Challenge 1: Development of a non-invasive tool for measuring rare disease patient mobility in daily living

487.500€ for Challenge 2: Delivery system for intranasal administration of biological drugs to neonates

487.500€ for Challenge 3: Characterize Rare Bone Disorders (RBD) Mobility Challenges in Real World Setting

487.500€ for Challenge 4: Pre-clinical assay to detect instability of microsatellite repeat expansions

Eligible costs:

• personnel costs
• travel and subsistence costs
• equipment costs 3 (depreciation costs of equipment used for the project) · costs of other goods and services
• sub-contracting costs, limited to 15% of the total requested budget
• funding for administrative costs and overheads are not allowed
• SMEs funding cannot exceed 80% of direct costs

In case of interest please contact lnorton@fsjd.org