Mission

The goals of Rare Infantile Spasms Consortium(RISC) are to provide cures of infants with Infantile Spasms (IS) with the various rare diseases that are etiologically related to IS and to guide and facilitate the research training of qualified individuals in this arena. The overall, audacious, goals are to determine the substrates underlying the emergence of IS; to identify biomarkers that predict the development of IS and to create treatment paradigms that eradicate IS and their devastating consequences, which include intractable epilepsies, mental retardation and autism. By studying several rare diseases, such as cryptogenic IS, Tuberous Sclerosis(TSC) or Hyperimmunoglobulin E (HIE) syndrome, we can begin elucidating why only some and not all infants with these rare diseases will develop IS and discover possible common substrates to base the application of novel treatment paradigms.

RARE DISEASES: We will enroll infants with IS associated with:

1. Cryptogenic etiology (rare disease 1);
2. Tuberous sclerosis complex (TSC, rare disease 2);
3. Severe perinatal HIE at term (rare disease 3);
4. Other:
      a. Cerebral dysgenesis other than TSC;
      b. Known genetic disorders (ie Trisomy 21, inborn errors of           metabolism associated etc)
      c. Miscellaneous causes (ie post traumatic, post-infectious, post           neonatal stroke).
      d. Symptomatic NOS (infants with abnormal development or           neurological examination or brain atrophy on imaging but           without a specific diagnosis).

The initial focus of the consortium will be in first three rare diseases listed, which are more homogeneous in terms of etiology. Future studies will include the other rare diseases noted. It should be pointed out that in the longitudinal studies we are including subjects from all four groups.