Rare Metabolic Disorder Clinical Trial Solutions

Rare metabolic research experience

When it comes to developing treatments for rare metabolic disorders, there are still many challenges that require the expertise of an experienced CRO solutions provider with enterprise-wide capabilities.

From issues with maintaining blood glucose levels to various mitochondrial disorders, there are a number of acquired and genetic conditions that result in metabolism problems in children and adults. Overcoming the complexities of treating these conditions requires specialized and flexible development services that include:

  • Rigorous feasibility assessments
  • Robust training
  • Access to supportive relationships with an extensive network of indication-specific sites

Keeping the patient at the center of metabolic disorders research is key to your success. When you partner with the PPD™ clinical research business of Thermo Fisher Scientific, you gain patient-centric services that enable you to increase recruitment for and retention in your clinical trial — from collaborating with various patient advocacy groups to providing proactive concierge services to reduce individual burden for patients and their caregivers.

Metabolic disease experience

  • Fabry disease
  • Gaucher disease
  • Glycogen storage disease type I/II
  • Hyponatremia
  • Hypoparathyroidism
  • Inborn errors of metabolism
  • Lysosomal acid lipase deficiency
  • Ornithine transcarbamylase deficiency
150+ rare metabolic and endocrine studies
Rare disease and pediatric expertise
Gene therapy experience

Patient services that drive metabolic disorder trial success and positive health outcomes

Patients with rare metabolic health conditions can face challenges getting to the clinic to participate in clinical trials. It’s important for sponsors to offer patients access to flexible remote and hybrid study opportunities and logistical support for travel and home health care.

You can make it easier for those affected by metabolic disorders to handle the intricacies of taking part in clinical trials — and increase participant retention — with our robust patient outreach services. By assigning a concierge to each participant at an early stage of the study, each patient receives consistent and proactive support that reduces individual burden as they participate in your metabolic disorder clinical trial.

These tailored patient and caregiver engagement services include:

  • Full-service booking and coordination of transportation to and from study sites that provide convenience for the patients, access to reliable transport and simplified travel expense verification
  • Flexible options for patient reimbursement in more than 150 currencies
  • Home health care options including partnering with remote staff
  • Connection to flexible protocols for digital and decentralized trials and hybrid approaches using mobile pages, wearables, telehealth and e-consent

On target: Glycogen storage disease study enrollment and retention success

Metabolic disorder clinical trials present unique challenges for drug developers. One study with a limited patient population required a complex schedule of assessments — including overnight stays and home health care visits — and implementation of continuous glucose monitoring (CGM) and lab testing to confirm eligibility. We developed and executed a strategy for a Phase I-II Glycogen Storage Disease Type IA trial that:

  • Enhanced CGM compliance
  • Kept enrollment on track
  • Maintained 100% study retention

Agile, novel solutions for site and patient access

When you work with us, you get agile solutions for site and patient access for those running clinical trials for rare metabolic disorders, whether they’re acquired or the result of genetics, including:

  • Seamless collaboration with pediatricians at our Rare Disease and Pediatric Center of Excellence (COE), which has performed more than 240 pediatric studies
  • Partnership with geneticists and rare disease experts to understand unique and specific medical or logistical issues that may arise in patients with each diagnosis and trial
  • Engagement with patient advocacy groups to represent the patient’s perspective in protocols, enhance community awareness, assist in outreach and provide connections to key opinion leaders
  • Removal of barriers to participation for hard-to-find patients by maximizing study decentralization through remote data collection and procedures and support for cross-border patient travel
  • Access to teams experienced with cutting-edge gene therapies, including clinical execution and site and team training, regulatory strategy and evidence planning
  • Use of feasibility tools that harness an extensive database to determine patient locations and numbers, types of providers and the competitive landscape

As you navigate the challenges of rare disease development, we can help. Connect with us to learn more about our patient-centric solutions in rare disease development.