Unknown Brain & Nervous System NIHR-supported project Lungs & Breathing

A global prospective observational registry of patients with Pompe disease

Funder NIHR (part of DHSC)
Recipient organisation NIHR Cambridge Biomedical Research Centre
NIHR support Recorded as supported by this research centre
Period Jan 2025 — Ongoing

In plain English

AI plain-English summary

Around 500 Pompe disease patients across roughly 100 global sites will be followed for at least five years in a new observational registry, tracking their real-world outcomes regardless of what treatments they have had or are currently taking. Pompe disease is a rare, inherited disorder that progressively weakens muscles, including the heart and breathing muscles. Existing clinical trials for treatments typically enrol highly selected patient groups and follow rigid protocols, leaving gaps in knowledge about how therapies actually perform in the broader, more diverse patient population seen in everyday clinics. This registry fills that gap by collecting routine clinical data—no extra tests or visits required—from patients with both the infantile and late-onset forms of the disease. If successful, the registry will provide long-term evidence on the safety and effectiveness of Pompe disease treatments in a real-world setting. That information can help clinicians and health systems make better decisions about which therapies work for which patients, and for how long. It may also reveal patterns of disease progression or treatment response that smaller, controlled trials miss. The registry runs from 2023 to 2033, with results expected in late 2033.

View original technical description
This is a global, multicenter, prospective, observational registry of patients with Pompe disease. The study population in this registry will consist of patients with a diagnosis of Pompe disease (late-onset Pompe disease (LOPD) or infantile-onset Pompe disease (IOPD)). The registry will be conducted at approximately 100 sites that manage patients with Pompe disease, including patients with either LOPD or IOPD. The goal of this registry is to assess clinical outcomes in patients with Pompe disease, including patients with late-onset Pompe disease (LOPD) or infantile-onset Pompe disease (IOPD), regardless of current or previous therapy. No mandatory visits, tests, or assessments are required for this registry.The use of real-world data for this registry will enable the evaluation of the long-term safety and effectiveness of Pompe disease treatments in a broad population of patients with Pompe disease.The prospective design enables the capture of important characteristics of patients with Pompe disease ([LOPD] or [IOPD]).The registry enrollment target will be approximately 500 consecutive patients diagnosed with LOPD or IOPD. Patients will be followed prospectively for at least 5 years from the date of signed informed consent (enrollment) or until the withdrawal of consent, enrollment in an interventional clinical study with an investigational product for Pompe disease, loss to follow-up, death, or the end of the registry, whichever comes first. This registry is planned to start in Q4 2023, with last patient enrolled Q4 2028, end of data collection in Q1 2033, and final report of registry results Q4 2033.

Researchers

Patrick Deegan (Principal Investigator)

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Original classification

Nutrition, Obesity, Metabolism and Endocrinology

Plain English summaries and category classifications on this site are generated by AI and may not perfectly reflect the original research.