Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome

Summary

The primary objective of this clinical trial is to evaluate efficacy of probiotic mixture which contains Lactobacillus casei, Lactobacillus salivarius and Bifidobacterium breve, in children with Fragile X aged 3-18 years. Specifically, links between microbiome modifications by probiotic mixture and behavioral manifestations and brain processing (eye tracker, EEG analysis) will be assessed. Exploratory objects of this trial are analyses of microbiome composition and assessment of its alterations and modifications (by probiotic mixture) that may lead to clinical improvement and prediction which patients with FXS may be likely to benefit from probiotics treatment.

This is open label trial without masking, where each participant receives probiotic for 3 months (12 weeks). It will be single group assignment. The study plans to enroll 15 participants with FXS, aged 3-18 years, both sexes, during 1-year period and complete all study-related activities by January 2025. During the 3-month study period, subjects will attend three visits (screening/baseline, 6-week, and 3-month visits) to the Fragile X Clinic at the Special Hospital for Cerebral Palsy and Developmental Neurology, Belgrade, Serbia. The primary outcome measureswill be Vineland Adaptive Behavior Scales-Third Edition (VABS-III) and eye tracking measures (social gaze and pupillometry). Exploratory endpoint will be microbiome analyses. Secondary outcome measures will be: CGI-S and CGI-I scores, ABC-CFX score, quality of life, sleep habits and EEG analyses.

Conditions

• Fragile X Syndrome

Interventions

DIETARY_SUPPLEMENT

Probiotics

Patients will be recruited and included in the study. At baseline, a detailed medical history, and physical and neurological examination will be carried out, with all medications and medical problems documented for all participants. In the first 4 weeks, each patient will receive a weekly call to evaluate tolerability of the probiotic and any adverse events (AEs). Visit 2 will be organized after 6 weeks and final visit 3 after 12 weeks of study period. Any change in medications will also be documented during visits. The examination and documentation of AEs, will be repeated at each visit, while CGI-I will be scoring at visit 2 and final visit 3. Outcome measures will be repeated at the final followup visit at 3 months/end of treatment. Stool samples will be collected twice, at the baseline and final visits. Analyses of microbiome will be performed once, at the end of the study, when all samples are collected and sent to the selected laboratory.

Sponsors & Collaborators

• FRAXA Research Foundation

  collaborator OTHER

• Specila hospital for cerebral palsy and developmental neurology

  lead OTHER

Principal Investigators

• Dragana Protic, Prof · University od Belgrade

Study Design

Allocation

NA

Purpose

BASIC_SCIENCE

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

3 Years

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2024-01-01

Primary Completion

2024-12-31

Completion

2024-12-31

Countries

• Serbia

Study Locations