Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Treatment of monogenic disorders with viral transduced haematopoietic stem cells

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Julia B Hennermann
  • Nathalie Guffon
  • Federica Cattaneo
  • Ferdinando Ceravolo
  • Line Borgwardt
  • Allan M Lund
  • Mercedes Gil-Campos
  • Anna Tylki-Szymanska
  • Nicole M Muschol
Vis graf over relationer

BACKGROUND: Alpha-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.

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 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.

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.

OriginalsprogEngelsk
TidsskriftOrphanet Journal of Rare Diseases
Vol/bind15
Udgave nummer1
Sider (fra-til)271
ISSN1750-1172
DOI
StatusUdgivet - 29 sep. 2020

ID: 62074656