The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of reliable data across study sites difficult. To address these challenges, an International MPS Consensus Conference for Cognitive Endpoints was convened to discuss approaches for evaluating cognitive and adaptive function in patients with mucopolysaccharidoses. The goal was to develop a consensus on best practice for the design and conduct of clinical studies investigating novel therapies for these conditions, with particular focus on the most appropriate outcome measures for cognitive function and adaptive behavior. The outcomes from the consensus panel discussion are reported here.
Bibliographical noteFunding Information:
Heather R Adams has served as a consultant to BioMarin; she receives research support from: Abeona Therapeutics, Batten Disease Support & Research Association, Batten Research Alliance, the Disability Research and Dissemination Center, and the National Institutes of Health (NIH).
Paul R Harmatz received consulting fees from Armagen, BioMarin, Shire, Genzyme Sanofi, Alexion, Chiesi, Inventiva, PTC Therapeutics, and ReGenXBio; research funding from BioMarin, Shire, Ultragenyx, Genzyme Sanofi, Alexion, and Armagen; and travel and meeting reimbursement from BioMarin, Shire, Genzyme Sanofi, and Alexion.
Frits A Wijburg has received honoraria for presentations and board meetings, travel expenses to meetings and honoraria for consultancy work from Genzyme Sanofi, Shire, Lysogene, and Sobi, and has received research grants from Genzyme Sanofi and BioMarin.
- Adaptive behavior
- Clinical trial