Clinical trial: Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay (NCT01616589)

Eligibility criteria:
Inclusion Criteria:

          -  Subject has previously been identified through molecular testing at Esoterix Genetic
             Laboratories as a Fragile X intermediate, premutation (carrier) or full mutation
             (affected).

          -  In the opinion of the subject's physician, the subject is medically stable and able to
             provide the required quantity of saliva.

          -  If Subject is at least 18 years of age:

          -  Subject must be willing to give written informed consent

          -  Subject must be willing to comply with the collection procedure

          -  If Subject is under 18 years of age, the legally authorized representative must give
             written informed consent and agree to comply with study procedures.

        Exclusion Criteria:

          -  Subject has been determined to be an individual with a normal FMR1 gene.

          -  Subject has a known medical condition that would cause risk to the donor or, if
             relevant, the fetus as a result of saliva collection.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.



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? Entailment