The neurofibromatoses (NFs) can result in substantial morbidity in affected patients. In order to
accelerate the development of effective therapies for NF-related tumor and nontumor manifestations,
the development of standardized meaningful outcome measures for clinical trials is critical.
The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International
Collaboration was established with the goal to develop consensus recommendations for outcome
measures and endpoints in future NF trials and provided the first set of recommendations in
a Neurology® supplement in 2013. This second supplement updates on clinical trials that have
incorporated the recommended measures and provides new recommendations for (1) standardized
and specific cognitive assessment tools for use in NF clinical trials, (2) patient-reported
outcome measures including pain and physical functioning, (3) functional outcome measures
for airway plexiform neurofibromas, (4) the use of whole-body MRI in NF, and (5) the development
of biomarkers in NF and guidelines for collection of biospecimens and establishment of biobanks
for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis. Through
engagement of the NF research community, regulatory agencies, NF advocacy groups, industry,
and patients with NF, REiNS will provide a framework for comprehensive review of these recommendations,
continue development of outcome measures relevant to patients, and compare
results of trials, which use identical outcome measures.
Brigitte C. Widemann, Scott R. Plotkin
Disease Category: Genetic disorders
Disease Name: Neurofibromatoses
Age Range: Unknown
Sex:
Nature of Intervention:
- Recommendations for outcome measures (measurement/how)