Neuropediatrics 2019; 50(S 02): S1-S55
DOI: 10.1055/s-0039-1698238
Poster Presentations
Poster Area GNP Metabolic/Neurodegenerative Disorders
Georg Thieme Verlag KG Stuttgart · New York

The First Multi-Center, Multi-National Retrospective and Prospective Natural History Study of Canavan Disease

Heather Lau
1   NYU Langone, Department of Neurology, New York, United States
,
Adam Shaywitz
2   ASPA Therapeutics Bridge Bio, ASPA Therapeutics, Palo Alto, United States
,
Kathleen Kirby
2   ASPA Therapeutics Bridge Bio, ASPA Therapeutics, Palo Alto, United States
,
Ilena Oppermann
3   UKE - Hamburg, Klinik und Poliklinik für Kinder- und Jugendmedizin, Hamburg, Germany
,
John P. Balser
4   Veristat, Veristat, Southborough, United States
,
Florian Eichler
5   MGH, Harvard Medical School Boston, USA, Department of Neurology, Boston, United States
,
Annette Bley
6   Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
11 September 2019 (online)

 

Objectives: Canavan Disease (CD) is a rare, autosomal recessive, leukodystrophy caused by aspartoacylase deficiency, leading to brain accumulation of its substrate N-acetylaspartic acid (NAA) and severe impairment of psychomotor development. CD progression can be most pronounced in the earliest months of life. There is a paucity of longitudinally collected data from CD patients and no approved therapies for CD exist. Advancing the understanding of CD and facilitating the development of therapeutic options requires a comprehensive, precise delineation of CD natural history. Therefore, the objective of this study is to rigorously collect data from CD patients, define endpoints for interventional trials, and identify gaps in disease management across ranges of ages and disease severity.

Methods: This multi-center natural history study will enroll pediatric CD patients for prospective, longitudinal collection of clinical data using standardized instruments and intervals on an observational basis and for retrospective collection of medical record data. As most classic CD patients do not obtain the ability to sit up, infant early development scales were chosen. Gross and fine motor development, cognitive development, quality of life, and general and disease-specific symptoms will be assessed. Beyond milestones, symptom occurrence will be extracted from medical records and assessed prospectively to populate a CD-specific disease scale. Quantitative brain imaging modalities will measure structure, morphology, and NAA.

Results: Demography and enrollment status will be presented.

Conclusions: The CD natural history study is enrolling and expected to continue for 3 years. The natural history database will be available for meaningful research towards treatment of CD patients.