Clinical trial: Pediatric Exploratory Research Study of EGCG Use and Safety (PERSEUS) (NCT03624556)

Eligibility criteria:
Inclusion Criteria:

          -  Males and females aged 6 to 12 years on day 1 of treatment.

          -  Clinical diagnosis of DS (full trisomy 21 or translocated) confirmed by chromosomal
             analysis (karyotyping) (Cohort I) or molecular diagnosis for FXS (mutations or
             premutations on the fragile mental retardation 1 gene-Fmr1 of the X chromosome)
             (Cohort II). A karyotype will be performed if not available in DS population. FXS
             molecular diagnosis will be performed if not available in FXS population.

          -  A body-weight under 50 kg.

          -  Parent or legal guardian/representative and caregiver willing to give written informed
             consent.

          -  Mental age ≥ 3 years (Brunet-Lézine scale C version, picture naming and receptive
             vocabulary of the WPPSI-IV)

          -  Study participants must have sufficient vision and hearing to participate in study
             evaluations. Mild hearing loss will be allowed.

          -  Availability of parent/caregiver to accompany the subject to clinical visits, provide
             information about the subject's behavior and symptoms and ensure compliance with the
             medication schedule.

          -  Subjects must be able to understand basic instructions. Naming and comprehension tasks
             of the WPPSI-IV will be used as an evaluation

        Exclusion Criteria:

          -  Study participants with a current Diagnostic and Statistical Manual of Mental
             Disorders (DSM-5) diagnosis of any primary psychiatric diagnosis (including autism
             spectrum disorder). For secondary diagnoses, such as attention deficit hyperactivity
             disorder, depression and conduct disorder, individuals under a fixed regime of
             medication (a regime that does not change in the 6 weeks prior to enrollment) are
             allowed as long as they are considered stable and their medication does not interfere
             with the progression of the study.

          -  Personal history of infantile spasms, of epilepsy, of severe head trauma or Central
             Nervous System (CNS) infections (e.g. meningitis), with the exception of a single
             isolated febrile seizure.

          -  Subjects with past history of seizures from primary causes (such as West syndrome and
             Lennox-Gastaut syndrome) or secondary causes.

          -  Clinical history of moderate or severe Obstructive Sleep Apnea (OSA) as defined by
             Apnea-Hypopnea Index (AHI) (>15 events per hour not well controlled by positive airway
             pressure therapy with stable settings) for at least 3 months prior to screening visit.

          -  Subjects with thyroid disease that is not controlled (elevated basal
             Thyroid-stimulating hormone (TSH) > 10 microU/mL) by thyroid hormone respective
             therapy.

          -  Evidence of active, clinically significant, and unstable gastrointestinal, renal,
             hepatic, endocrine or cardiovascular system disease.

          -  Cardiovascular, Systolic Blood Pressure (SBP) and/or Diastolic Blood Pressure (DBP)
             outside the 95th percentile for age; resting heart rate above 100 bpm.

          -  Cardiovascular, ECG: clinically relevant ECG abnormalities at screening. Auscultation
             is mandatory part of cardiovascular examination.

          -  Clinically significant abnormalities in laboratory test results at screening unless
             acceptable by the investigator.

          -  Life-threatening illness or major surgery in the 3 months prior to the study.

          -  Concomitant disease or condition or any clinically significant finding at screening
             that could interfere with the conduct of the study, or that would, in the opinion of
             the investigator, could lead to an unacceptable risk to the subject in this study.

          -  Patients with risk factors of liver dysfunction such as previous history of liver
             disease, previous clinically significant hepatic abnormalities in laboratory testing,
             previous allergy or intolerance with liver disorders or any clinically significant
             abnormalities in hepatic laboratory testing at screening

          -  Participation in other clinical trials in the last 3 months prior to the study.

          -  Concomitant use of unapproved medication.

          -  Current intake of vitamin supplements, catechins or products containing EGCG (i.e.
             TEAVIGO, Mega Green Tea capsules Life Extension or Font-UP Grand Fontaine
             Laboratories) for at least 3 months previous to the screening.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 6 Years old.
Subject must be at most 12 Years

Patient description (medical language): A 15-year-old boy with mild intellectual disability is brought to the office by his parents for a routine physical examination.  The boy is going to a school for students with learning disabilities.  The patient was adopted, and his immunizations are up to date.  Review of the patient's medical records is notable for cytogenetic studies that showed a small gap near the tip of the long arm of the X chromosome, which is consistent with fragile X syndrome, an X-linked disorder. The defect is an unstable expansion of trinucleotide repeats (CGG) in the fragile X mental retardation 1 (FMR1) gene, located on the long arm of the X chromosome. He is not using any medications and vital signs are within normal levels. His blood chemistry analysis as bellow:
Blood Chemistry Value      Normal Range     Patient Value
Glucose                    90-120 mg/dl     95 mg/dl
BUN (Blood Urea Nitrogen)  7-24 mg/dl       10 mg/dl
Creatinine                 0.7-1.4 mg/dl    0.8 mg/dl
Calcium                    8.5-10.5 mg/dl   9 mg/dl
Sodium                     134-143 mEq/L    135 mEq/L
Potassium                  3.5-4.5 mEq/L    3.7 mEq/L
Chloride                   95-108 mEq/L     98 mEq/L
CO2                        20-30 mEq/L      25 mEq/L
Blood pH                   7.38-7.42        7. 39

Patient description (patient's own words): My husband and I brought our 15-year-old son to the clinic for his routine exam. My son is going to school for special needs students. We adopted him a few years ago. His vaccinations are up to date. He already passed some chromosome testing and they found that he has a fragile X syndrome. The doctor told us that it comes from repeats in the fragile X chromosome. My son is not using any medication and his blood pressure temperature and breathing were normal during the exam. He also did a blood test. The results came back and showed that his blood sugar urea creatinine calcium sodium potassium chloride CO2 and blood pH were all within the normal range.

Does the patient match the trial criteria? Contradiction