Pediatric Global Gene Therapy Clinical Trial Support for AADC Deficiency
This global gene therapy study required highly specialized, long-term patient support to enable participation for children with severe mobility and care needs across multiple regions.
AADC deficiency is a rare, severe genetic condition that presents in early infancy and significantly impacts motor, neurological, and autonomic function. Children enrolled in this study experienced complex care needs, profound mobility limitations, and required constant caregiver support.
Symptoms presenting in early infancy reflected the severity and complexity of the condition, impacting motor, neurological, and autonomic function from a very young age.
- Motor: Hypotonia, feeding difficulties, and significant developmental delays
- Neurological: Oculogyric crises (eye-rolling episodes), dystonia, athetosis, sleep disturbances, and irritability
- Autonomic: Excessive sweating, temperature instability, ptosis, nasal congestion, and low blood pressure
All patients were wheelchair-dependent with severe mobility challenges, requiring specialist considerations across every aspect of trial participation.
Study Footprint
| Site Locations | Patient Locations |
| US (4) | US (3) Brazil (3) Malaysia (2) Thailand (2) UAE (1) Singapore (1) |
| Israel (1) | India (1) |
| Taiwan (1) | Singapore (1) – transferred from the US site |
This wide geographic spread required extensive international coordination for pediatric patients and multiple caregivers, often involving long-distance travel across continents.
The Challenge
This study presented a unique combination of operational and human challenges, including:
- Highly vulnerable pediatric population with complex medical and mobility needs
- International travel requirements for wheelchair-bound children and their caregivers
- Extended stays near sites, in some cases lasting up to one year post-treatment
- Ongoing COVID-19 travel restrictions (2021–2022), varying by country and changing frequently
- Significant financial and emotional burden on families, many of whom had to temporarily relocate internationally
Ensuring continuity of care, patient safety, and family wellbeing was critical to the success of the study.
The Solution
mdgroup partnered closely with the sponsor, research sites, and caregivers to deliver a highly personalized, patient-first support model. Working closely with the CRO, services were designed to adapt to each family’s medical, logistical, and practical needs while maintaining full compliance, transparency, and trust at every stage of the trial.
Our goal was simple but essential: to remove as much friction as possible from trial participation, allowing families to focus on their child’s care.
Services Delivered
Global Travel & Logistics Support
- Coordinated international airfare, ground transport, and accommodation for pediatric patients and their parents
- Supported additional caregivers (including grandparents, aunts, and uncles) where required
- Ensured all bookings accommodated wheelchair access, medical equipment, and mobility limitations
- Managed complex and evolving COVID-19 entry requirements, quarantine rules, and documentation
- Acted as a central communication hub between caregivers, sites, and local travel providers
Long-Term Accommodation & Reimbursement
- Supported families who opted to self-book long-term accommodation (e.g. Airbnb) through structured reimbursement
- Enabled extended stays of up to one year post-treatment to allow for recovery, monitoring, and complication management
- Implemented support payments for:
- Screening visits
- Each on-study visit
- Patients and all accompanying caregivers
- Payments were delivered via reloadable payment cards, helping families manage:
- Living expenses
- Meals
- Day-to-day costs during long international stays
Bespoke, Patient-Led Problem Solving
Beyond standard trial support, mdgroup responded to real-world needs as they arose:
Nutrition support:
At the sponsor’s request, the project team procured food processors for families, recognizing that patients could not eat solid food.
Devices were sourced, approved, and delivered directly to family accommodation via Amazon.
Mobility equipment support:
Investigated wheelchair procurement options for patients. Where specialist customization was required, mdgroup provided families with:
- Local medical supply company contacts
- Online procurement resources
Although purchases were not completed due to complexity, families were supported with clear options and guidance.
Evolving Care Models: In-Home Physical Therapy
As patient needs changed over time, mdgroup expanded support further:
- Preparing to deliver in-home physical therapy assessments for patients unable to continue international travel (e.g. Malaysia to the US)
- Recently completed direct training with the sponsor and healthcare professionals, ensuring assessments can be delivered safely, compliantly, and consistently in the home
- This represents a highly bespoke and innovative care model, enabling continued participation despite significant mobility and travel barriers
The Impact
- 100% patient completion in the main study, enabling children with profound disabilities to participate in a complex global gene therapy study
- Maintained continuity of care across 8 countries, despite COVID-19 disruptions and changing travel restrictions
- Supported high-touch, long-term follow-up critical to patient safety and data integrity
- Reduced physical, emotional, and financial burden on families during extended international stays
- Demonstrated mdgroup’s ability to adapt services in real time as patient needs evolved
The Difference
This study highlights what truly patient-first clinical trial support looks like in practice.
By combining global operational expertise with empathy, flexibility, and ingenuity, mdgroup helped ensure that some of the world’s most vulnerable patients — and their families — could access life-changing research without compromising safety, dignity, or quality of care.
