Clinical trial: Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability (NCT04154891)

Eligibility criteria:
1. Inclusion criteria for children or adults with ID of unknown etiology (index case)

             In order to be eligible to participate in this study, an individual must meet all the
             following criteria:

               -  Age:

                    1. Between 0 and 5 years with stringent criteria (severe delayed development in
                       terms of motor skills, language, and/or sociability) OR

                    2. ≥ 6 years: patients with ID, whatever the severity (but with proven ID by ad
                       hoc neuropsychological testing) and the associated manifestations

               -  Without any obvious diagnosis identified during a genetic consultation in one of
                  the participating center (i.e., an obvious syndrome with ID with well-known
                  molecular diagnosis is excluded);

               -  Provision of signed and dated of "participant" consent form;

               -  Stated willingness to comply with all study procedures and availability for the
                  duration of the study.

             Patient with a social security in compliance with the French law (Provisions relating
             to research involving the human person provided for in Articles L 1121-1 et seq. of
             the French Public Health Code).

          2. Inclusion criteria for biological parents

             - Provision of signed and dated of both parents consent form.

          3. Non-inclusion criteria

               -  An individual, who presents any condition which in the investigator's opinion
                  makes it undesirable for the subject to participate in the trial or which would
                  jeopardize compliance with the protocol, will not be eligible;

               -  Patients with isolated learning disabilities;

               -  One or both parents with ID;

               -  Parent placed under judicial protection (tutelle, curatelle et sauvegarde de
                  justice) ;

               -  Patient with a known etiological diagnosis (non-genetic, previously proven Fra-X
                  syndrome, know chromosomal anomaly, known pathogenic or probably pathogenic
                  variant identified in an ID gene by any technique).

               -  For patient concerning by biobank project: hypersensitivity to local anesthesia
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers



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