Prospective observational study of natural history and standard of care in pediatric patients affected by lysosomal storage disorders and diagnosed through newborn screening

Study identification

• EU PAS number:
  EUPAS1000001010
• Study ID:
  1000001010
• Official title and acronym:
  Prospective observational study of natural history and standard of care in pediatric patients affected by lysosomal storage disorders and diagnosed through newborn screening
• DARWIN EU® study:
  No
• Study countries:
  Italy
• Study description:
  This multicenter, observational study is designed to systematically characterize the natural history of lysosomal storage disorders (LSDs) from birth under standard of care (SoC). LSDs are rare inherited metabolic diseases caused by lysosomal enzyme deficiencies, leading to progressive accumulation of toxic substrates and multi‑organ involvement, frequently affecting the central nervous system and skeletal system. Despite available treatments, including enzyme replacement therapy and hematopoietic stem cell transplantation, substantial unmet clinical needs remain, particularly for neurological and skeletal manifestations. Increasing evidence supports the benefit of early, pre‑symptomatic intervention; however, diagnosis often occurs after irreversible disease progression. The implementation of newborn screening programs enables early identification of affected individuals, yet longitudinal real‑world data on early disease onset, progression, and treatment response are limited. To address this gap, the study prospectively collects standardized clinical, biochemical, and functional data without altering routine clinical practice, thereby providing robust real‑world evidence to improve disease understanding and support the development and evaluation of novel therapeutic strategies, including gene‑based approaches.
• Study status:
  Planned

Research institutions and networks

Institutions

IRCCS Ospedale San Raffaele

Fondazione IRCCS San Gerardo dei Tintori-Monza

Study timelines

Date when funding contract was signed

Planned:01/09/2026

Study start date

Planned:01/09/2026

Date of final study report

Planned:01/12/2032

Sources of funding

Non-for-profit organisation (e.g. charity)

More details on funding

Fondazione Regionale per la Ricerca Biomedica

Regulatory

• Was the study required by a regulatory body?:
  No
• Is the study required by a Risk Management Plan (RMP)?:
  Not applicable

Other study registration identification numbers and links

TIGET18-LSD-NBS