The Prader-Willi syndrome (PWSA) is a rare genetic disease. In America babies born with PSW is estimated at 1:8,000 to 1:25,000 with the most likely figure being 1:15,000. This figure is less compared to Down’s syndrome, which affects thousands of babies each year.
Before we discuss the recent CBD clinical trial involving Prader-Willi Syndrome. Let’s first understand the disease and it’s symptoms
The name of the disease is derived from the names of Swiss doctors, Andrea Prader and Heinrich Willi, who in 1956 described the syndrome for the first time. At that time, the cause of the disease was not yet known, but its symptoms were so unique.
Prader-Willi syndrome symptoms
All newborns with Prader-Willi syndrome suffered (to varying degrees) hypotonia, i.e. decreased muscle tone.
Due to the flaccidity of facial muscles, the face of a newborn with PWS often did not express any emotions, and due to the ineffectiveness of respiratory muscles, including the diaphragm, they experience difficulties in breathing.
For slightly older children between 2 and 6 years of age, the main symptoms are extreme hunger, overeating and obsession with food — a condition known as hyperphagia. (which may be life-threatening in some cases)
Children (and adults) with PWS syndrome are usually not satisfied despite the amount of food they eat, hence the desire to continuously eat. which eventually results in obesity.
Prader-Willi syndrome is a genetic disease caused by abnormalities (deletion) in the gene-chromosome 15 or by maternal uniparental disomy. Interestingly, the disease is not inherited (in other words the probability of a child inheriting this disease is very low).
Researchers are trying to ascertain the mechanism responsible for hyperphagia and the occurrence of other symptoms of the disease associated with PWS. Researchers suggested that damage to the hypothalamus — a part of the brain responsible for many important functions, including thirst, thermoregulation, hunger, metabolic changes, sleep and wakefulness, sexual activities (reproductive cycle, sex drive), caused the symptoms that occur in patients with Prader-Willi syndrome.
Patients with PWS require constant monitoring by their caregivers/family with respect to their diets, as they stand the risk of being obese or other diseases associated with it.
CBD Clinical Trial Involving Prader-Willi Syndrome
Recently a clinical trial involving Prader Willi syndrome was initiated. The main objective is to assess the efficacy of a CBD solution (cannabidiol) when administered orally to 66 patients with PWS.
The second objective of this study is to assess the safety of cannabidiol, its impact on the quality of life and physical activity of patients with PWS. The cannabidiol solution at a dose of 40 mg/kg body weight/ day will be divided into two daily doses given with a standard meal. Although the whole experiment will last only 13 weeks, however, the result of the study will be made known to the public June next year.
It is important to note that, the assessment will be made on the basis of the Hyperphagia. Furthermore, caregivers of PWS patients will be handed out a questionnaire after the clinical trial.
If the results obtained demonstrate the efficacy of cannabidiol in the treatment of PWS, then CBD oil will become an alternative remedy for PWS.
Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. „Am J Med Genet”. 35, s. 319-332, 1990.