Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients. (PRIME)
Romano-Ward Syndrome, Long QT Syndrome, Compulsive Behavior
About this trial
This is an interventional basic science trial for Romano-Ward Syndrome focused on measuring Romano-Ward Syndrome, Long QT Syndrome, Insulin-related diseases, Compulsive Behavior, ASBQ, CHIRP, OCI-R, UPPS-P, CPT, GWAS, Healthy individuals, KCNQ1 mutations
Eligibility Criteria
Inclusion Criteria:
- In the investigator's opinion, the subject is generally healthy based on their medical records (subjects with KCNQ1 mutation only), medical history, physical examination, vital signs, body weight, ECG (except long QT if applicable), and based on the results of haematology, clinical chemistry, urinalysis, urine drug screen (UDS) and serology;
- Subjects with a KCNQ1 mutation: genotyped as having a mutation on the KCNQ1 gene with or without phenotypic manifestation of long QT syndrome;
- Relatives of subjects with a KCNQ1 mutation: KCNQ1-mutated family relatives (with or without phenotypic expression) of a subject carrying a KCNQ1 mutation (Romano-Ward patients or subjects without phenotypic manifestation of long QT syndrome);
- Relatives of subjects with a KCNQ1 mutation must live in a different household than the subject with the KCNQ1 mutation;
- All subjects: negative UDS by dipstick analysis: opiates, methadone, cocaine, amphetamines (including ecstasy), barbiturates, benzodiazepines, and cannabinoids at admission to the assessment visit;
- All subjects: negative alcohol breath test at admission to the assessment visit.
Exclusion Criteria:
- All subjects: having taken within 1 year before the assessment visit or currently taking any of the following medications: a. Antidiabetics: metformin, pioglitazone, acarbose, miglitol, sitagliptin, vildagliptin, saxagliptin, exenatide, liraglutide, semaglutide, repaglinide, nateglinide, insulin. b. Medications interfering with the central nervous system (CNS) such as any antipsychotic, antidepressant or regular use of anxiolytic medications > once a week, or any attention deficit/hyperactivity disorder (ADHD) medication (e.g. methylphenidate);
- Healthy subjects and relatives of subjects with a KCNQ1 mutation not phenotypically affected: any of the following on a de novo ECG: a. Heart rate (HR) < 40 bpm or > 100 bpm; b. PR interval <120 msec; c. Abnormal repolarization; d. QT interval corrected for HR using Fridericia's formula (QTcF) > 450 msec for male subjects or > 470 msec for female subjects.
Sites / Locations
- L'Institut du Thorax, Nantes HospitalRecruiting
- Biotrial Clinical Unit
Arms of the Study
Arm 1
Arm 2
Experimental
Sham Comparator
KCNQ1 mutated subjects
Healthy subjects
This arm includes : KCNQ1-mutated subjects with long QT Romano-Ward syndrome KCNQ1-mutated subjects without phenotypic expression of the Romano-Ward syndrome family relatives of a KCNQ1-mutated enrolled subject, carrying the KCNQ1 family mutation
Healthy subjects will be matched to KCNQ1 subjects. The matching factors will be age per decade (18-28 years, > 28-38 years, > 38-48 years), gender and body mass index (BMI: ≤ 24.9 kg/m2; 25-29.9 kg/m2; > 30 kg/m2).