100-150 pts with dg. inflammatory bowel disease

Fabry Disease

dry blood test

General Teaching Hospital

Screening of Fabry Disease in Patients With GI Symptoms

The Czech National Fabry Disease Screening Study in Patients Diagnosed With Non-infectious Inflammatory Bowel Disease, Functional Dyspepsia or Irritable Bowel Syndrome

To assess prevalence of Fabry disease in GI symptomatic participants, alpha-galactosidase enzymatic activity will be determined in samples of dry blood spot of patients with some medical history of idiopathic inflammatory bowel disease, functional dyspepsia or irritable bowel syndrom in a study population of 500-800 patients.

after first 6 months first data available - number of screened/positive/negative pts

Gabriela Dostálová

Principal Investigator

General University Hospital, Prague

Charles University, Czech Republic

Klinické centrum ISCARE

Amicus Therapeutics

Miglustat is administered, dose is adjusted according to Body Surface Area as below:
>1.25 : 200 mg TDS 0.88-1.25 : 200mg BID 0.73-0.88 :100mg TDS 0.47-0.73 : 100mg BID <0.47 :100mg daily

GM2 Gangliosidosis

Supportive Care

Treatment with Zavesca regimen based on body surface area as follows: SQRT [Height (cm) × Weight (kg)] / 3600 <1.25 : 200mg TDS 0.88- 1.25: 200mg BID 0.73- 0.88: 100 mg TDS 0.47- 0.73: 100 mg BID <0.47: 100 mg Daily

Miglustat

Kashan University Of Medical Sciences

Mashhad University Of Medical Sciences

Tehran University Of Medical Sciences

Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)

Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases

A total score is reported according to Pediatric Quality Of Life Inventory Infant Scales. Total score range is between 0-45 and higher values represent worse outcomes.

Tavasoli

Principal investigator

Tehran University of Medical Sciences

Mashhad University of Medical Sciences

Kashan University of Medical Sciences

Although randomized control trial is the gold standard for clinical trial studies; there are ethical concerns about placebo control group in rare diseases such as Sandhoff and Tay sachs diseases.

lysosomal storage diseases/diarrhée

Screening of Fabry Disease in Patients With GI Symptoms

Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)

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