PROVide Sanfilippo Video Project
Research type
Research Study
Full title
PROVide Sanfilippo Video Project
IRAS ID
269382
Contact name
Elin Haf Davies
Contact email
Sponsor organisation
Lysogene
Duration of Study in the UK
3 years, 1 months, 2 days
Research summary
Research Summary
The study was designed by Cure Sanfilippo, a patient advocacy group in partnership with Casimir Trials, a parent-patient driven CRO and Aparito, a specialist medical-technology providers, and supported by the sponsor, Lysogene, biotech company developing gene therapy for rare diseases.
The Sanfilippo video study is a virtual, non-interventional, observational study, evaluating the value of video
assessments to capture disease stabilization and improvement in Mucopolysaccharidosis Type III (MPS IIIA) patients who have been treated with gene therapy as a video based patients reported outcome.
Patients will include children with MPS from >6 months to around <8 years given gene therapy. Children are not anticipated to be older than 8 years at enrolment.
Mucopolysaccharidosis are a group of lysosomal storage diseases involving an inherited deficiency of an enzyme
responsible for the degradation of mucopolysaccharides, called glycosaminoglycans. MPS IIIA symptoms begin to
appear during early childhood and include delayed speech and behaviour problems such as aggression,
destructiveness, anxiety or features of autism.
Thus, this study would be used to monitor the onset and evolution of disease hallmarks of MPS IIIA patients using
video assessment. The study will also explore the observations of caregivers of MPS IIIA patients following gene
therapy study and utilise video assessment for capturing any new abilities that MPS IIIA patients gained following gene
therapy.
These videos will be reviewed and assessed by study staff and contribute to a better understanding of the real-world experience of the disease and any potential
therapeutic impact.Summary of Results
MPSIIIA is the most severe type of Sanfilippo syndrome, and is predominantly characterized by devastating neurodegenerative features combined with somatic symptoms.
The PROVide study was a parallel, complementary study to the main P4-SAF-302 Adeno-associated viral vector SGSH gene therapy trial, designed to ask a separate research question: do home-based video collection paired with qualitative interviews enhance the sensitivity to change among quality-of-life domains prioritized by the MPSIIIA community as meaningful symptoms relative to therapies in development.
The PROVide study includes new data from caregivers to P4-SAF-302 trial subjects to address the challenges associated with assessing the cognitive function of the children in clinic due to anxiety and behavioral issues. To address these challenges, the PROVide study involves clinician assessments of video captures of activities of daily living in the home environment as well as analysis of qualitative interviews with caregivers to capture their perceptions of change in their child’s abilities and behaviors over time. The PROVide study aims to complement the P4- SAF-302 study by providing insight into the real-world impact of the potential therapeutic effect of the LYS-SAF302 gene therapy being investigated.
Domains of interest were previously identified through a caregiver workshop and a literature review as meaningful to families and were complimentary to the data captured in clinic for the in P4-SAF-302 trial. These included self care, play with object, speech and communication, social interaction, hyperactivity/ distress, eating and walking.
The study combined video capture of the tasks in the home environment and qualitative interviews.
The planned analysis of the PROVide study had two components:
• Open thematic coding and analysis of the qualitative interviews with caregivers
• Assessments of video data by clinician raters
Thirteen patients out of 19 patients who underwent gene therapy in the P4-SAF- 302 clinical trial were recruited. Three caregivers in the P4-SAF-302 trial declined to participate in the PROVide study, and three additional caregivers withdrew early from the study.
Caregivers’ responses (improvement, stability, or decline, respectively) to the domain-specific questions of change, “Would you say the child you care for has been gaining skills/ getting better, stable/ staying the same, or losing skills/ getting worse?”, informed disease trajectory slopes from the period leading up to treatment through two years following gene therapy. The caregivers’ perceptions of changes were presented through representative quotes to provide insight into the nuances of disease progression in each disease hallmark as seen in the home environment in this population.
Scoring criteria were developed for four domains - walking, communication, eating and drinking and engagement with object/ play. The videos captured were scored by specialist health care professionals with an expertise in MPS.
Unfortunately Lyosgene went into liquidation and the study results were not made available. Lysogene executives are now exploring ways to make the study results available for the wider community and to enable the publications of the results.REC name
West of Scotland REC 4
REC reference
19/WS/0110
Date of REC Opinion
29 Aug 2019
REC opinion
Further Information Favourable Opinion