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SNPMiner Trials (Home Page)
Report for Mutation S1009A
Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene
There are 2 clinical trials
Clinical Trials
1 Road to Discovery for Combination Probiotic BB-12 With LGG (Different Doses) in Treating Autism Spectrum Disorder Disorders
This protocol is a blinded randomized controlled study of the effects of BB-12 with LGG at different doses in 70 healthy children with autism spectrum disorders at lower and higher doses over an 56-day period and a 28- day observation period. The study is being conducted in order to assess safety and tolerability of the probiotic (BB-12 with LGG) at 2 different doses of BB-12 with LGG. Identifying effects on behaviors in healthy children with ASD using SRS-2 and ABC, GI symptoms using GI symptom severity index, and relevant biomarkers of inflammation, microbiota, and metabolites. Primary testing and procedures will be conducted at the University of Texas Health Science Center at Houston and Memorial Hermann. Biomarker identification includes Integrative analysis of plasma metabolome and stool microbiota will be conducted with the collaboration of Dr. Ruth Ann Luna and Dr. Jim Versalovic at Alkek Center for Metagenomics and Microbiome Research, Department of Molecular Virology & Microbiology of Baylor College of Medicine.
NCT03514784 Conditions
- Autism Spectrum Disorder
- Gastrointestinal Symptoms
Interventions
- Drug: BB-12 with LGG (Higher Dose)
- Drug: Placebo
- Drug: BB-12 with LGG (Lower Dose)
MeSH:Disease Autistic Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive
HPO:Autism Autistic behavior
GI symptoms will be measured by the GI Severity Index.. Effects of BB-12+LGG at different doses on gut inflammation (S1009A). --- S1009A ---
Primary Outcomes
Description: Adverse events (Safety) will be measured by case report form (survey) that are related to BB-12 with LGG (health-promoting bacteria) or placebo treatment. The symptom grade will detail the severity of adverse events.
Measure: Effects of BB-12+LGG at different doses on adverse events (safety) Time: 84 daysSecondary Outcomes
Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the Aberrant Behavior Checklist (ABC) pre and post treatment
Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors with Aberrant Behavior Checklist (ABC) Time: Days 1, 21, 56 and 84Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the and the Social Responsiveness Scale-2 (SRS-2) pre and post treatment.
Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors measured with the Social Responsiveness Scale-2 Time: Days 1, 21, 56 and 84Other Outcomes
Description: GI symptoms will be measured by the GI Severity Index.
Measure: Effects of BB-12+LGG at different doses on GI symptoms as measured by GI Symptom Severity Index Time: Days 1, 21, 56 and 84Description: Plasma S100A9 will indicate GI and systemic levels of inflammation. S100A9 is a damage-associated molecular pattern molecule (DAMP) released by granulocytes, which is reportedly elevated 2-fold in plasma of children with ASD.
Measure: Effects of BB-12+LGG at different doses on gut inflammation (S1009A) Time: Days 1, 56 and 84Description: Biological change in fecal calprotectin levels. FC is a highly accurate fecal marker of inflammation.
Measure: Effects of BB-12+LGG at different doses on gut inflammation (Fecal Calprotectin) Time: Days 1, 56 and 84Description: Plasma zonulin, a marker for intestinal permeability ("leaky gut"), which is often associated with inflammation.
Measure: Effects of BB-12+LGG at different doses on gut inflammation (Plasma Zonulin) Time: Days 1, 56 and 84Description: IL-8 can be an indicator of gut inflammation; it released from the intestinal epithelial cells during inflammation.
Measure: Effects of BB-12+LGG at different doses on gut inflammation (IL-8) Time: Days 1, 56 and 84Description: Using 16S rDNA analysis, this will determine microbial alpha and beta diversity and distribution of the major taxa before and after probiotic treatment.
Measure: Effects of BB-12+LGG at different doses on fecal microbial community Time: Days 1, 56 and 84Description: This will determine levels of metabolic markers which are reported to be abnormal in autism: fecal amino acids, ammonia, short chain fatty acids (SCFA), and phenols.
Measure: Effects of BB-12+LGG at different doses on metabolites Time: Days 1, 56 and 842 Incidence, Clinical Characteristics and Evaluation of Prognostic and Diagnostic Markers of Interstitial Pneumonia With Autoimmune Features (IPAF) - a Multicenter Prospective Study
Interstitial pneumonia with autoimmune features (IPAF) was defined in 2015 by the Working Group of the European Respiratory Society (ERS) and the American Thoracic Society (ATS) as interstitial pneumonia with some clinical and/or serological features suggesting presence of an underlying autoimmune disorder. However, ofiicial criteria for diagnosis of an autoimmune disease are not met. Aims of the study: 1. Determine the incindence of IPAF in comparison with interstitial lung diseases (ILDs) and classic autoimmune diseases (ADs) in polish pulmonological centers. 2. Clinical, serological, functional and radiological and histopathological characteristics of IPAF patients. 3. Analysis of diagnostic strategies towards specific IPAF subgroups. 4. Characterictics of potencial diagnostic, predictive and prognostic features of IPAF. 5. Prospective assessment of IPAF patients in the courseof 5 years in order to determine stability of the diagnosis and potential progression to other diseases, e.g. ADs.
NCT03870828 Conditions
- Interstitial Lung Disease
- Interstitial Pneumonia
- Interstitial Fibrosis
- Autoimmune Diseases
Interventions
- Diagnostic Test: Bronchoalveolar lavage and taking bronchial mucosa samples
- Diagnostic Test: 6minute walk test
- Diagnostic Test: Arterial blood gas
- Procedure: Blood drawing
MeSH:Pneumonia Lung Diseases Lung Diseases, Interstitial Autoimmune Diseases
HPO:Abnormal lung morphology Abnormal pulmonary Interstitial morphology Autoimmunity Interstitial pneumonitis Pneumonia
Samples will be checked for concentration of S1009A protein, chemokine (C-C motif) ligand 2 and chitotrisidase 1 (CHIT 1). --- S1009A ---
Primary Outcomes
Description: It is still unclear whether there are diagnostic markers specific for IPAF or whether there is a significant difference in concentration of fibrosis biomarkers in IPAF, CTD-ILD and ILD groups. Both blood and BAL biomarkers will be taken under consideration, they include chemokine C-C motif ligand 18 (CXCL18), Surfactant Protein A- (SP-A), Surfactant Protein D (SP-D), Krebs von den Lungen-6 protein (KL-6) and chitotrisidase 1 (CHIT1).
Measure: Identification of IPAF diagnostic markers Time: 10.2019-10.2020