HERTFORDSHIRE, UK – April 15, 2025 – PHARMExcel, a leading UK-based Clinical Research Organisation (CRO), proudly supports global efforts to raise awareness for Fabry disease and other rare conditions, including Mucopolysaccharidoses (MPS) and lysosomal storage disorders. Our commitment to improving outcomes for patients living with rare diseases extends beyond awareness months, we’re striving to accelerate clinical research every day for the 200 million people affected with a rare disease.
In 2025, PHARMExcel is actively participating in several national and international events that support the rare disease community, foster collaboration, and promote innovation in research. Our chosen charity partner this year, Rare Beacon, plays a vital role in amplifying the voices of those living with rare diseases and improving access to research and care.
PHARMExcel is proud to support the following events in 2025:
“We’re proud to work alongside our partners, clients, and patient communities to drive meaningful change in rare disease research,” said Yvanne Enever, CEO and Founder of PHARMExcel. “From early-phase clinical trials to strategic regulatory guidance, our commitment to rare diseases, including Fabry and MPS, reflects our mission to deliver quality-driven, patient-focused research with impact.”
Fabry disease is a rare genetic lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of a fatty substance called globotriaosylceramide in the body, resulting in pain, kidney failure, heart disease, and stroke. Symptoms vary widely and can begin in childhood or adulthood.
MPS diseases are a group of inherited metabolic disorders caused by the body’s inability to produce specific enzymes. These conditions lead to progressive damage to the heart, bones, joints, respiratory system, and central nervous system. MPS conditions are complex, life-limiting, and currently have no cure.
PHARMExcel is an award-winning CRO supporting the delivery of high-quality clinical research across the UK and beyond. With a strong focus on biotech innovation and rare diseases, PHARMExcel partners with academia, healthcare providers, and industry to accelerate treatments from bench to bedside.
OPTHALMOLOGY
Phase I Novel Treatment
One of the largest clinical studies of patients with Birdshot Uveitis (eye disease) in the UK running at Moorfields Eye Hospital and University Hospital Birmingham.
ONCOLOGY
Phase I Advanced Therapy Trial
A novel new treatment therapy INKmune, for patients diagnosed with Myelodysplastic Syndrome or Acute Myeloid Leukaemia.
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GENE TRANSFER
Phase I ATMP study
An open label dose-escalation study of a self complementary adeno-associated viral vector for gene transfer in patients with haemophilia B
IMMUNOLOGY
Phase I Rare Disease
Trialling Secukinumab, a monoclonal antibody that selectively targets interleukin-17A (IL-17A), a cytokine involved in the inflammatory processes underlying Behcet’s disease – a rare autoimmune disease
ONCOLOGY
Phase I/II Interventional
A new transplant pre-conditioning technique TRALA (Targeted Radiotherapy for AL-Amyloidosis) that may result in an improvement in the response rate posttransplant for S-ALA patients
FABRY DISEASE
Phase I-IV
Our in-house team has experience in running Fabry disease clinical trials in the UK and ROW. From our collaboration with the Rare Disease Research Partners and the MPS Society we can provide enhanced trial design for the sponsor, patients and sites.
