Maria-Cruz Morillo
Head, Advanced Therapeutics
(Rare and CGT)
Clinical Development Solutions for Rare and Ultra-Rare Diseases
Rare diseases are a diverse and vast group of disorders that affect not only patients but their entire families. With over 8,000 diseases identified and 95% of these lacking treatments, they impact approximately 300 million people worldwide, of which 75% affect children.
As a rare disease CRO, our expertise encompasses the entire range of clinical trials for rare disease drug development, from natural history studies to pivotal trials, addressing complex considerations including pediatric and vulnerable populations, novel biomarkers, clinical and surrogate endpoints, and innovative trial designs like basket and umbrella trials. We emphasize the integration of patient perspectives and specialize in a wide array of innovative medicines and advanced therapeutics in rare and ultra-rare disease research.
Your Challenges in Rare Disease & Orphan Drug Development
Regulatory Hurdles
Navigating the complex regulatory landscape of rare disease drug development, including expedited pathways and orphan drug applications, and compliance with evolving guidelines, can be challenging. Additionally, clinical design aspects such as single arm pivotal studies and historical controls can present unique challenges within rare disease research.
Complex Study Designs
Designing a rare disease clinical trial involves navigating unique challenges such as patient burden, selecting appropriate clinical endpoints and biomarkers, addressing placebo-related obstacles, and ensuring continuous data monitoring. Given the limited patient populations in rare disease research, adaptive trial designs play a crucial role in optimizing efficacy and safety assessments while enhancing study flexibility.
Patient Identification & Recruitment
In rare disease clinical trials, finding eligible participants is challenging due to the limited and widely dispersed patient population. Successful rare disease research relies on innovative strategies to identify, recruit, and retain patients, ensuring trials have the necessary participants to generate meaningful insights.
Pediatric Patient Populations
Conducting pediatric clinical trials is both complex and essential, particularly in rare disease research. With small patient populations, severe and intricate conditions, and critical ethical considerations, these trials play a pivotal role in advancing rare disease drug development. Addressing these challenges is crucial not just for young patients but also for their families, ensuring access to innovative treatments through rare disease clinical trials.
As a rare disease CRO, we share your dedication to advancing treatments for complex and hard-to-treat conditions. We understand that rare disease and orphan disease research requires deep expertise, innovative approaches, and a steadfast commitment to patient-centric trial designs.
Conducting a rare disease clinical trial or advancing orphan disease research comes with exceptional challenges. Trials must be ethically sound, scientifically rigorous, and designed to ease the burden on patients and their families. Our approach ensures that both rare disease and orphan drug development progress efficiently, ultimately driving medical breakthroughs and improving patient outcomes.
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Rare Disease Knowledge Center
Our cross-functional team of regulatory, biostatistics, clinical pharmacology, medical affairs, and operational experts, leverage insights acquired thorough the conduct of 120+ rare disease clinical trials and 300+ consulting and functional programs to offer tailored strategies that enhance study design and execution. This knowledge acts as the foundation of our Rare Disease Curricula training program for all clinical operations team members participating in rare and orphan disease clinical trials.
Regulatory Strategy & Support
As a rare disease CRO, Allucent has effectively navigated the regulatory pathways for rare disease and orphan drugs in a variety of rare disease clinical trials including those using adaptive designs, real-world evidence, natural history studies, as well as Pediatric Study Plans and Pediatric Investigation Plans. Our rare disease therapeutic expertise includes specialized knowledge of orphan drug development, experience submitting orphan drug designations and applications (ODA), strategies surrounding breakthrough designation, the provisions of strategic regulatory insights, interacting with regulatory authorities, and managing post-market surveillance requirements.
Study Design
As a rare disease CRO, Allucent applies innovative strategies to overcome challenges associated with small patient populations. Leveraging statistical methodologies including adaptive designs or the use of natural history data and historical controls allows for the efficient use of limited data, ensuring optimal use of limited resources and accelerating the rare disease drug development process. Additionally, model-informed drug development (MIDD) and physiologically-based pharmacokinetic modelling can guide dosing decisions and support extrapolation across populations. These strategies, when combined with our regulatory consultancy expertise, enable more rapid and efficient develop program for rare disease therapeutics.
Patient Recruitment & Retention
Allucent is a rare disease CRO committed to improving outcomes for patients living with rare diseases. Our rare disease therapeutic expertise includes leveraging multiple pathways, site networks, and industry collaborations to access and engage geographically dispersed patients and bring the research to the patient whenever possible. Strategies include:
- Rare disease site networks across North American and Europe
- KOL referrals
- Collaboration with patient advocacy groups
- Utilizing patient registries
- Site/clinical databases
- Investigator experience and patient relationships
Furthermore, Allucent adopts patient-centric trial designs that integrate decentralized clinical trials (DCT, telemedicine, remote monitoring, and digital health tools, enhancing accessibility through home nursing visits and patient concierge services to remove logistical barriers.
These elements make participation in clinical trials for rare disease drug development more accessible and significantly less burdensome for patients, accommodating their needs and improving their overall trial experience.
Pediatric Populations
With over 70% of rare diseases manifesting in childhood, addressing challenges from pediatric populations is a primary focus for Allucent. Our experience in ultra orphan disease and rare disease research includes conducting trials in premature babies, neonates, and adolescents, using patient and family centric approaches through in-house patient education and information capabilities, decentralized trial designs, and logistical support including travel reimbursements and accommodation through-out the duration of the study.
In rare diseases, every patient’s journey is different, but no one should go through it alone. By focusing on their experiences and acknowledging the high unmet needs, we can advance clinical trials that bring us closer to easing their struggle. Together, we’re not just searching for new treatments, we are creating hope, fostering resilience, and building a future where rare diseases are no longer overlooked.
MARIA-CRUZ MORILLO
GLOBAL THERAPEUTIC OPERATIONS LEAD, RARE DISEASES
Depth of Rare Disease & Orphan Drug Experience
As a rare & orphan disease CRO Allucent has more than 30 years of expertise successfully navigating the unique challenges of rare disease and orphan disease clinical trials including ethical considerations in protocol design, small sample sizes, pharmacokinetic sampling limitations, the need for standardized subjective endpoints, vulnerability of the patient population, and constantly evolving regulatory requirements within orphan drug development.
205+
Rare Disease Studies
3740+
Global Sites
15455+
Rare Disease Patients Recruited
54+
Orphan Drug Applications
All-time years of experience
With global breadth and depth across a wide range of rare diseases, Allucent partners with biotech companies to bring innovative therapies to light.
Cross-Therapeutic Expertise
Allucent’s rare and ultra-rare disease clinical trials expertise spans multiple therapeutic areas including neuroscience, autoimmune, pulmonary, genetic, metabolic, and oncology. It includes a variety of novel drug classes and precision medicine including gene therapies, stem cell therapies, biologics, GMOs, mRNA and antisense therapies.
RARE & ULTRA-RARE DISEASE THERAPEUTICS EXPERIENCE
- Endocrine (e.g. acromegaly, Cushing’s disease)
- Epilepsies (e.g. pediatric, adult; progressive, genetic,
refractory) - Hemolytic anemias (e.g. CAD, WAD, PNH, SCD)
- Blood clotting disorders (e.g. hemophilia, ITP, TTP)
- Spasticity and sialorrhea (e.g. CP, MS, stroke, trauma)
- Neuromuscular disorders (e.g. ALS, muscular dystrophy, CP, ataxia, Huntington’s disease)
- Lysosomal storage disorders (e.g. various subtypes)
- Gastrointestinal disorders (e.g. short bowel)
- Pulmonary disorders (e.g. CF, PAH, IPF)
- Cardiac disorders (e.g. ATTR-CM amyloidosis)
- Skin disorders (e.g. RDEB, DDEB, EBS)
- Lupus nephritis
Meet Some of Our Rare Disease & Orphan Drug Experts
- Head of Allucent’s Rare Disease Center of Expertise integrating cross functional expertise to provide strategic solutions for rare disease trials
- 25+ years of experience in Project Management and Strategy and IMP Supply in both biotech and CRO
Ilze Balode, MD
Senior Medical Director,
Rare Diseases
- Pediatrician and neonatologist with 20+ years of experience in clinical research and all aspects of clinical trials, including gene therapies
- Experience in many rare pediatric indications and treatment modalities
Milan Marinkov, MD
Executive Medical Director,
Therapeutic Area Medical Lead,
Rare Diseases
- Leads Allucent’s Rare Disease Medical Affairs Group; providing scientific and medical oversight in rare indications
- 15+ years of medical expertise encompassing all aspects of clinical trials from set up to study close-out
Related Content
Additional Resources
FAQs
Allucent provides specialized contract research services for rare and ultra-rare disease clinical trials, including adaptive clinical trial design, regulatory support, and hybrid and decentralized study models that support patient-centric operations to help biopharma companies efficiently bring innovative therapies through complex development pathways.
Rare disease drug development requires unique trial designs, innovative endpoints, and tailored strategies for small, dispersed patient populations, along with deep regulatory knowledge to navigate complex approval pathways.
Allucent leverages specialist rare disease site networks, patient registries, advocacy partnerships, and decentralized trial approaches to identify and engage eligible participants, enhance recruitment and retention, and increase accessibility in geographically dispersed rare disease populations.
Allucent’s rare disease experience spans many areas, including neuroscience, autoimmune, pulmonary, cardiometabolic, and oncology, and supports advanced modalities like gene therapies, stem cells, biologics, and novel precision medicines.
Allucent offers strategic guidance and solutions for orphan drug designation, expedited pathways, adaptive design consultations, regulatory submissions, and interactions with regulatory authorities to help clients navigate evolving rare disease regulatory requirements and achieve timely approvals.