692173
Conditions
Interventions
Group 1: The study is planned to be conducted at the Genetics Clinic of Heidelberg University Hospital. Patients with a previously diagnosed pathogenic variant of PRKAR1B, along with their parents or
Sponsors
Institut für Humangenetik
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: A previously identified pathogenic variant in the PRKAR1AB gene Written informed consent for study participation from the parents or guardian(s).
Exclusion criteria
Exclusion criteria: No written consent to study participation by the subject/guardian
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The study is a monocenter study, designed as a Clinical Phenotyping Study. The study is prospective and exploratory in design, aiming to assess the sensitivity, cognitive, metabolic and hormonal phenotypes of a group of individuals with a rare genetic abnormality. The study is limited in the number of subjects to be included, and will consist on aproximately 15 patients. There will be no group assignment. There is no placebo group and there are no control subjects. Clinical information will be used, when available, and medical histories will be obtained if the clinical information is not available. Study-related measures: - Pain and temperature phenotype assessment - Speech and movement assays - Cognitive testing - Regression assessment - Laboratory assays (lipid panel, glucose, HgbA1C, growth hormone, ghrelin and leptin, salivary cortisol) | — |
Countries
Germany, Italy, Ukraine, United Kingdom, United States
Contacts
Public ContactChristian Schaaf
Institut für Humangenetik
Outcome results
None listed