Journal of Genetic Syndromes & Gene Therapy
Open Access

A comparative analysis of demographic information among 12 neural intractable diseases in a national registry of a rare disease in Japan

5^th Annual Congress on Rare Diseases and Orphan Drugs

August 29-30, 2018 | Boston, USA

Yoko Sato and Yasuhiro Kanatani

National Defense Medical College, Japan
National Institute of Public Health, Japan

Scientific Tracks Abstracts: J Genet Syndr Gene Ther

Abstract :

We conducted a comparative analysis of sex, family history, age, and functioning during the activities daily life (ADLs), which are essential data on developing drugs, among neural intractable diseases by using data registered to a national registry of Japan between 2001 and 2008. We had a total of 88,680 data including twelve diseases as follows: Parkinsonism & Related disorders (PRD, 57.80%), spinocerebellar degeneration (SCD, 10.33%), amyotrophic lateral sclerosis (ALS, 8.43%), myasthenia gravis (MG, 5.98%), Shy-Drager syndrome (SDS, 5.87%), moyamoya disease (MMD, 5.12%), multiple sclerosis (MS, 4.85%), prion disease (0.77%), Huntington's disease (0.41%), lysosomal storage disease (0.33%), adrenoleukodystrophy (ALD, 0.10%), and subacute sclerosing panencephalitis (SSPE, 0.01%). The lowest men-to-women ratio was shown in MS (0.48), followed by MMD (0.51) and MG (0.65), whereas the highest ratio 27.7 was shown in ALD. The highest ratio of cases with a family history was shown in lysosomal storage disease (62.4%), followed by Huntington's disease (51.5%) and SCD (33.1%). All SSPE cases didn't have a family history. In an analysis of the distribution of age at application, MG, prion disease, ALS, ALD, SDS, lysosomal storage disease, SCD, and PRD showed the peak age of over 60 years. The peak age of Huntington's disease, MS, and SSPE was about 50 years, around 30, and around 10 respectively. MMD showed a bimodal peak in pediatrics and adults. The level of functioning during ADLs was analyzed with data since 2003. The highest ratio of cases required assistance was shown in SSPE (100%), followed by prion disease (87.9%) and PRD (57.5%). Adjusted analyses resulted in prion disease showed the largest tendency with impaired ADLs (adjust odds ratio: 19.75, 95% confidence interval: 13.50-28.91). We'll evaluate a progress of functioning during ADLs by using updated data. And the evaluation of diagnostic support for neural intractable diseases by artificial intelligence will be needed.

Biography :

Yoko Sato, PhD, DDS, Research associate, Division of Biomedical Engineering, National Defense Medical College. She has engaged in analysis of medical data from applications submitted to a public registration system for intractable disease in Japan.

E-mail: ysato@ndmc.ac.jp