The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

Orphanet Journal of Rare Diseases

Federica Cattaneo¹  Ferdinando Ceravolo¹  Line Borgwardt²  Allan M. Lund²  Nathalie Guffon³  Nicole M. Muschol⁴  Mercedes Gil-Campos⁵  Anna Tylki-Szymanska⁶  Julia B. Hennermann⁷ 

[1] Chiesi Farmaceutici S.p.A., Parma, Italy;Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark;Hôpital Femme Mère Enfant, Lyon, France;International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany;Reina Sofía University Hospital, IMIBIC, CIBEROBN, Córdoba, Spain;The Children’s Memorial Health Institute, Warsaw, Poland;University Medical Center Mainz, Langenbeckstr. 1, 55131, Mainz, Germany;

关键词: Alpha-mannosidosis;    Recombinant alpha-mannosidase;    Velmanase alfa;    Patient registry;    Enzyme-replacement therapy;   

DOI  :  10.1186/s13023-020-01549-8

来源: Springer

【 摘 要 】

BackgroundAlpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. 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.ResultsThe 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 treatment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin 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 electrocardiogram 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; secondary 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. Publications to disseminate scientific insights from the registry are planned.ConclusionThis 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.

【 授权许可】

CC BY