MLD announces publication of RhizoQOL survey
MLD is happy to announce that it has published the first RCDP-specific quality-of-life instrument, RhizoQOL. MLD has been working in collaboration with Dr. Mousumi Bose and her team at Montclair State University to develop a survey that will appropriately capture the quality-of-life of individuals with RCDP, as reported by their caregiver. The development and initial validation of the scale has been accepted for publication in Orphanet Journal of Rare Diseases.
Dr. Bose, lead author on the paper, shared that "This survey instrument is the result of many years of collecting data and analyzing it in a way that aims to meaningfully capture the daily experience of patients with RCDP. While many of the domains included in the instrument are specific to the impact of RCDP, several domains are closely aligned with the experiences of many other inherited metabolic disorders. The hope is that this instrument will show value as a valid endpoint in clinical trials for RCDP, but also serve as a template for similar rare disorders, with respect to development, evaluation and implementation."
The development of patient- and observer-reported outcomes that capture the reality of the disease process is increasingly becoming a critical part of novel therapies clinical development programs. The ultra-rare nature of RCDP, together with the wide range of clinical presentations, and the limited published literature available on the disease, made it challenging to understand the true burden of disease and what improvement might look like in an interventional trial. These challenges led to the creation of the RhizoQOL, a quality-of-life scale tailored for the RCDP community.
“The RhizoQOL survey is an invaluable resource in our clinical development program for RCDP. Regulators are increasingly encouraging the use of clinical endpoints that are representative of the disease, so an RCDP-specific survey was an absolute requirement. We are grateful to all the Rhizo families that were involved in the development and validation of the survey. Without them and Dr. Bose’s group, this could have never become a reality,” commented Tara Smith, Executive Vice President.
The RhizoQOL scale is currently part of the ongoing Natural History Study, allowing for the collection of longitudinal information on quality-of-life in RCDP patients. The intention is to incorporate the survey into a future Phase II intervention study with PPI-1011 to see if clinically observed changes post-treatment are correlated with an improvement in overall quality-of-life.
To read the full article please visit Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder | Orphanet Journal of Rare Diseases | Full Text