title: Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients.
abstract: BACKGROUND
  Mucopolysaccharidoses (MPS) are inherited metabolic disorders caused by deficiencies in enzymes involved in degradation of glycosaminoglycans. MPS type III (Sanfilippo disease) is clinically characterized mainly by progressive and severe behavioral disturbances and cognitive dysfunction. Recent 1-year experimental treatment of 10 patients with a genistein (4', 5, 7-trihydroxyisoflavone)-rich extract resulted in improvement of tested parameters, including cognitive and behavioral functions.
  
  
  METHODS
  Eight pediatric patients with Sanfilippo disease were enrolled into the study. The modified version of the Brief Assessment Examination was used to assess cognitive functions. Moreover, 18 different parameters concerning changes in conditions of patients were assessed by their parents.
  
  
  RESULTS
  During the first year of the treatment, an improvement of cognitive functions in 7 patients and stabilization in 1 patient were assessed, while after the third year (2-year follow-up) further improvement was observed in 2 patients, stabilization in 3 patients and some deterioration in 3 patients. Monitoring of general and behavioral symptoms revealed improvement in all patients after the first year of the treatment, further improvement in 5 patients, and deterioration in 3 patients during the next 2 years.
  
  
  CONCLUSIONS
  We conclude that the treatment of Sanfilippo patients with a genistein-rich soy isoflavone extract (called gene expression-targeted isoflavone therapy [GET IT]) may be effective in either inhibition (in some patients) or slowing down (in other patients) of behavioral and cognitive problems over a longer period. An increased dose of genistein may improve the efficacy of the treatment.
authors: Department of Molecular Biology, University of Gdansk, Gdansk, Poland.
authors: Ewa
authors: E
authors: Piotrowska
authors: Joanna
authors: J
authors: Jakobkiewicz-Banecka
authors: Agnieszka
authors: A
authors: Maryniak
authors: Anna
authors: A
authors: Tylki-Szymanska
authors: Ewa
authors: E
authors: Puk
authors: Anna
authors: A
authors: Liberek
authors: Alicja
authors: A
authors: Wegrzyn
authors: Barbara
authors: B
authors: Czartoryska
authors: Monika
authors: M
authors: Slominska-Wojewodzka
authors: Grzegorz
authors: G
authors: Wegrzyn
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology*; D005260:Female; D005500:Follow-Up Studies; D019833:Genistein / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009084:Mucopolysaccharidosis III / Q000188:drug therapy* / Q000503:physiopathology*; D010290:Parents; D008517:Phytotherapy; D010936:Plant Extracts / Q000627:therapeutic use*
chemical_list: D010936:Plant Extracts; D019833:Genistein