Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)
Paraules clau
Resum
Descripció
This study is a case- control, open label clinical trial. Patients are all registered with diagnosis of Sandhoff and Tay sachs, and recruited at children's medical center Tehran-IRAN. Diagnosis is confirmed by enzyme level and genetic tests. Case group receive Miglustat therapy for 1 year and frequently assessed. Patients in control group are also assessed for 1 year without receiving Miglustat.
Patients are evaluated for neurologic examination, seizure, nasogastric tube insertion, aspiration pneumonia and quality of life at the beginning of study and every 3 months. Miglustat is considered as an Orphan drug so clinical trials about this drug are designed small and adjusted to limited population.
Variables in neurologic examination are Muscle tone, Muscular atrophy and contracture. motor function is scored according to "Gross Motor Function Classification System" (GMFCS) and quality of life is assessed by Infant Toddle Quality Of Life (ITQOL) questionnaire, with confirmed validity and stability.
Data gathered during frequent visits is registered in check lists and analyzed with SPSS version 18. Quantitative variables express with mean and standard deviation and qualitative variables with frequency and percentile. Analysis of variance for repeated measurements (ANOVA) and nonparametric freedman are tests using for comparisons of Outcomes. Sample size is calculated by formula for clinical trials with repeated measures.
Miglustat is FDA approved for Gaucher and Niemann pick diseases. All patients fill the informed consent and the nature of the study is explained to them. The information of participants is kept confidential. They are informed about side effects of the drug. If any cases at any time decides to exclude themselves from the study they are free to do so.
Dates
Darrera verificació: | 02/29/2020 |
Primer enviat: | 01/21/2019 |
Inscripció estimada enviada: | 01/28/2019 |
Publicat per primera vegada: | 01/29/2019 |
Última actualització enviada: | 03/29/2020 |
Publicació de l'última actualització: | 03/30/2020 |
Data d'inici de l'estudi real: | 01/13/2019 |
Data estimada de finalització primària: | 08/31/2021 |
Data estimada de finalització de l’estudi: | 12/29/2021 |
Condició o malaltia
Intervenció / tractament
Drug: Miglustat
Fase
Grups de braços
Braç | Intervenció / tractament |
---|---|
Experimental: Miglustat 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 | Drug: Miglustat 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 |
No Intervention: No Miglustat |
Criteris d'elegibilitat
Edats elegibles per estudiar | 6 Months Per a 6 Months |
Sexes elegibles per estudiar | All |
Accepta voluntaris saludables | Sí |
Criteris | Inclusion Criteria: - Clinically and enzymatically suspected infants of Sandhoff (SD)/Tay-Sachs (TSD) diseases followed confirmation by molecular study. Exclusion Criteria: - Renal impairment - Loss of follow up - Other systemic diseases - Concomitant drug therapy which may affect neurological system function |
Resultat
Mesures de resultats primaris
1. Hospitalization frequency change [Baseline and 4, 8, 12 months after intervention and 1-year without intervention]
2. Pneumonia aspiration frequency change [Baseline and 4, 8, 12 months after intervention and 1-year without intervention]
3. Seizure Frequency change [Baseline and 4, 8, 12 months after intervention and 1-year without intervention]
4. Route of feeding change [Baseline and 4, 8, 12 months after intervention and 1-year without intervention]
5. motor function change [Baseline and 4, 8, 12 months after intervention and 1-year without intervention]
Mesures de resultats secundaris
1. quality of life change [Baseline and 1year]