Clinical trial: Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases (NCT03971292)

Eligibility criteria:
Inclusion criteria common to all participants:

          -  Patient minor or major

          -  Patient suffering from a pathology studied in the laboratory by high throughput
             sequencing: intellectual disability, myopathies, neurosensory disease (Bardet-Biedl
             syndrome, retinitis pigmentosa, ....), DNA repair diseases (Cockayne syndrome, ...)

          -  Sampling allowing the extraction of available RNA (or RNA available in the bank)

          -  Patient (or its legal representative) having already given their consent, on the one
             hand for carrying out genetic analyzes to determine the cause of their disease, and on
             the other hand for the conservation of part of their non used for further use in order
             to continue diagnostic investigations in the light of evolving knowledge and for
             research purposes.

          -  Patient (or its legal representative) agreeing to use data from his medical file and
             those associated with genetic diagnosis for research purposes

          -  Patient affiliated to a social security scheme Inclusion criteria for the test phase

          -  Pertogenous mutation (s) known Inclusion criteria for the prospective phase

          -  Magnetic molecular diagnosis, after the usual investigations (high-throughput
             sequencing of a panel of genes on genomic DNA, sequencing of exome, or even genome.

        Non-inclusion criteria:

        ◾ Refusal of the patient (or his / her legal representative) to participate in the study.
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