The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
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RESEARCH
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha‑mannosidosis Julia B. Hennermann1*, Nathalie Guffon2, Federica Cattaneo3, Ferdinando Ceravolo3, Line Borgwardt4, Allan M. Lund4, Mercedes Gil‑Campos5, Anna Tylki‑Szymanska6 and Nicole M. Muschol7
Abstract Background: Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alphamannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. It is a post-approval commitment to European marketing authorization for Velmanase alfa (Lamzede®), the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild to moderate alpha-mannosidosis. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively. Results: The SPARKLE registry is designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting patient enrollment in 2020. Patients will be followed for up to 15 years. Safety and effectiveness as post-authorization outcomes under routine clinical care in patients with treat‑ ment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immuno‑ globulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocar‑ diogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality-of-life effectiveness outcomes; sec‑ ondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publica‑ tions to disseminate scientific insights from the registry are planned. Conclusion: This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease. Keywords: Alpha-mannosidosis, Recombinant alpha-mannosidase, Velmanase alfa, Patient registry, Enzymereplacement therapy
*Correspondence: Julia.Hennermann@unimedizin‑mainz.de 1 University Medical Center Mainz, Langenbeckstr. 1, 55131 Mainz, Germany Full list of author information is available at the
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