A Trial of Metformin in Individuals With Fragile X Syndrome

• Register: ClinicalTrials.gov
• Last refreshed on: 2 August 2023
• Main ID: NCT03479476
• Date of registration: 20/03/2018
• Prospective Registration: Yes
• Primary sponsor: University of California, Davis
• Public title: A Trial of Metformin in Individuals With Fragile X Syndrome Met
• Scientific title: A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome
• Date of first enrolment: April 30, 2018
• Target sample size: 120
• Recruitment status: Recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT03479476
• Study type: Interventional
• Study design: Allocation: Randomized. Intervention model: Parallel Assignment. Primary purpose: Treatment. Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor).
• Phase: Phase 2/Phase 3

Countries of recruitment

Canada, United States

Contacts

• Name: Abigail H Borbe

• Name: Randi J Hagerman, MD
• Affiliation: University of California, Davis

Key inclusion & exclusion criteria

Inclusion Criteria:

- Molecular genetic confirmation of the full FMR1 mutation or mosaicism.

- Males and non-pregnant, non-lactating females age 6 to 25 years, inclusive.

- Ability of subject and/or caregiver to understand, read, write, and speak English
fluently to complete study-related materials.

- IQ = 79 as measured by the Leiter-III at screening.

- Participant is able to speak at least occasional 3-word phrases.

- Participant and parent/caregiver are willing to participate in the protocol and able
to attend the clinic regularly and reliably.

- Stable concomitant medication dose and dosing regimen for at least 4 weeks prior to
the screening/baseline visit, and the intention to maintain a stable regimen of
allowed concomitant medications for the full duration of the study.

- Stable behavioral/educational treatments for at least 4 weeks prior to the
screening/baseline visit.

- Sexually active women of childbearing potential must be using a medically acceptable
method of birth control for the duration of the study and have a negative urine
pregnancy test collected at the initial screening/baseline visit.

- For participants who are not their own legal guardian, the parent/legal authorized
representative is able to understand and sign an informed consent to participate in
the study.

Exclusion Criteria:

- Non-cooperation or inability to follow through with the study protocol.

- Life-threatening medical problem or other major systemic illness that compromises
health or safety and/or would interfere with the study.

- History of intolerable adverse events with metformin.

- Current or recent metformin treatment (within the past year).

- Body mass index (BMI) less than 2 standard deviations for age.

- Serum creatinine > 1.4 mg/dl (female) or > 1.5 mg/dl (male) at screening.

- History of metabolic acidosis or a condition with lactic acidosis.

- Severe B12 deficiency.

- Pregnancy at screening or unwillingness to use acceptable method of birth control, if
applicable.



Age minimum: 6 Years
Age maximum: 25 Years
Gender: All

Health Condition(s) or Problem(s) studied

Sex Chromosome Disorders

Fra(X) Syndrome

Fragile X Syndrome

FXS

Neurobehavioral Manifestations

Fragile X Mental Retardation Syndrome

Mental Retardation, X Linked

Trinucleotide Repeat Expansion

Genetic Diseases, X-Linked

Intellectual Disability

Intervention(s)

Drug: Placebo Medication

Drug: Metformin

Primary Outcome(s)

Change from baseline in the Expressive Language Sampling (ELS) mean Number of Different Words (NDW) score [Time Frame: Baseline, End of Treatment/Week 16]

Secondary Outcome(s)

Change from baseline in the Vineland Adaptive Behavior Scales-Third Edition (VABS-III) Adaptive Behavior Composite Score [Time Frame: Baseline, End of Treatment/Week 16]

Change from baseline in the Pediatric Quality of Life Questionnaire (PedsQL) Parent Proxy overall score [Time Frame: Baseline, Week 8, End of Treatment/Week 16]

Improvement of symptoms in FXS using the Clinical Impression - Improvement (CGI-I) scale [Time Frame: Baseline, Week 8, End of Treatment/Week 16]

Change from baseline in the Anxiety Depression and Mood Screen (ADAMS) overall score [Time Frame: Baseline, Week 8, End of Treatment/Week 16]

Change from baseline in the Child Sleep Habits Questionnaire (CSHQ) overall score [Time Frame: Baseline, Week 8, End of Treatment/Week 16]

Change from baseline in the Swanson, Nolan and Pelham Questionnaire (SNAP-IV) overall score [Time Frame: Baseline, Week 8, End of Treatment/Week 16]

Change from baseline in the FXS-normed Aberrant Behavior Checklist - Community Edition (ABC-C) [Time Frame: Baseline, Week 8, End of Treatment/Week 16]

Change from baseline in the Visual Analog Scale (VAS) [Time Frame: Baseline, Week 8, End of Treatment/Week 16]

Secondary ID(s)

1068417

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

University of Alberta

St. Justine's Hospital