The MPS-I HAND-MAP study focuses on the functional consequences of residual hand disease in children and adolescents with Mucopolysaccharidosis type I (MPS-I). Although hematopoietic stem cell transplantation has greatly improved the prognosis of children with MPS-I, important residual disease often remains. One of the areas in which this becomes most visible is the hand, where skeletal abnormalities, carpal tunnel syndrome, trigger fingers, and stiffness may interfere with daily activities.

At present, hand function in children with MPS-I is not yet structurally assessed during routine follow-up. As a result, subtle changes in strength, sensibility, mobility, or daily functioning may be recognized too late. The MPS-I HAND-MAP study addresses this gap by systematically evaluating hand function using standardized quantitative measurements. This includes evaluation of hand strength, sensibility, joint range of motion, and patient- and parent-reported outcome measures related to daily activities and autonomy. By combining objective measurements with the experiences of children and families, we aim to gain a more complete understanding of how residual hand disease affects independence, participation, and quality of life.

By generating a detailed profile of hand function in MPS-I, the MPS-I HAND-MAP study will provide important foundational knowledge for earlier recognition of functional decline. The results will support the development of a standardized hand function screening protocol and may help improve future monitoring, timely referral, and personalized care for children and adolescents with MPS-I.