RecruitingNot ApplicableNCT06279858

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

Probiotic Intervention for Microbiome Modifications and Consequential Clinical Improvements in Children With Fragile X Syndrome: Pilot Study

Sponsor

Specila hospital for cerebral palsy and developmental neurology

Enrollment

15 participants

Start Date

Jan 1, 2024

Study Type

INTERVENTIONAL

Conditions

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.

Eligibility

Min Age: 3 YearsMax Age: 18 Years

Inclusion Criteria9

Subject has Fragile X syndrome with a molecular genetic confirmation of the full FMR1 mutation or mosaicism.
Subject is a male or female age 3 to 18 years.
Subject must have a parent or caretaker who is willing to participate in the whole study.
Subject and caregiver are able to attend the clinic regularly and reliably.
Subject and/or subject's parent/legal authorized representative is able to understand, read, write and speak Serbian fluently to complete study-related materials.
Behavioral and other non-pharmacological treatments/interventions must be stable for 4 weeks before screening and must remain stable during the period between screening and the commencement of study probiotic, and throughout the study. Minor changes in hours or times of therapy that are not considered clinically significant will not be exclusionary. Changes in therapies provided through a school program, due to school vacations, are allowed.
The use of concomitant medications must be stable, in terms of dose and dosing regimen, for at least 4 weeks prior to Screening and must remain stable during the period between Screening and the commencement of the study; every effort should be made to maintain stable regimens of allowed concomitant medications from the time of commencement of double-blind study medication until the last study assessment.
Patient's parent(s), legal authorized guardian(s), or consistent caregiver(s) can understand and sign an informed consent form to participate in the study. For subjects who are not their own legal guardian, subject's parent/legal authorized representative is able to understand and sign an informed consent to participate in the study.
Subject and/or subject's parent/legal authorized representative is able to understand, read, write, and speak Serbian fluently to complete study-related materials.

Exclusion Criteria7

Families that are not cooperative and will not follow through with the demands of this study;
Antibiotic use in the last two months (not counting topical antibiotics);
Currently taking antibiotics;
Any changes in medications, nutritional supplements, therapies, in the last two months, or any plans to change them during the first 3 months of probiotic treatment;
Diagnosis of severe gastrointestinal diseases, such as Crohn's Disease, or Ulcerative Colitis;
Subject has a life-threatening medical problem or other major systemic illness that compromises health or safety and/or would interfere with this study;
Age younger than 3 or older than 18 years.

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Interventions

DIETARY_SUPPLEMENTProbiotics

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.