Clinical trials on Autosomal Dominant Hypocalcemia (ADH)

Autosomal Dominant Hypocalcemia (ADH) is a genetic disorder characterized by low levels of calcium in the blood (hypocalcemia), which results from mutations in the calcium-sensing receptor (CaSR) gene. This receptor plays a crucial role in regulating calcium levels in the body. In ADH, the mutated receptor becomes overly active, causing the body to inappropriately lower blood calcium levels. This condition is typically diagnosed early in life and can vary in severity depending on the specific mutation and its effect on the receptor’s function. Complications of Autosomal Dominant Hypocalcemia include:
  • Neuromuscular Irritability: Hypocalcemia can lead to symptoms such as muscle cramps, spasms (tetany), or seizures due to increased nerve excitability.
  • Cardiac Complications: Abnormal heart rhythms and changes in the electrical conduction system of the heart may occur due to low calcium levels.
  • Cataracts: Prolonged hypocalcemia can lead to the development of cataracts, impairing vision.
  • Dental Problems: Enamel hypoplasia and delayed dentition can be observed in children with ADH.
  • Basal Ganglia Calcifications: Deposits of calcium in the brain, which can potentially lead to neurological symptoms.
Currently available therapies for Autosomal Dominant Hypocalcemia include:
  • Calcium Supplements: Oral calcium is used to help raise and maintain blood calcium levels.
  • Active Vitamin D Analogs (e.g., Calcitriol): These help the body absorb more calcium from the diet and reduce the secretion of parathyroid hormone.
  • Magnesium Supplementation: This may be necessary as magnesium is crucial for the proper function of the calcium-sensing receptor.
Prognosis of Autosomal Dominant Hypocalcemia: The prognosis for individuals with Autosomal Dominant Hypocalcemia largely depends on the severity of the condition and how well it is managed. With appropriate and consistent treatment to maintain normal calcium levels, many individuals can lead relatively normal lives. Regular monitoring and lifelong management are required to prevent complications associated with hypocalcemia. Early diagnosis and careful adjustment of therapy are crucial for optimizing health and minimizing the risk of long-term complications.
  • CT-EU-00115006

    Exploring encaleret’s effectiveness for Autosomal Dominant Hypocalcemia type 1

    This clinical study is a research project focused on understanding how well and safely a medication called Encaleret works compared to the usual treatments for a condition known as Autosomal Dominant Hypocalcemia Type 1 (ADH1). ADH1 is a rare genetic condition that can lead to low calcium levels in the blood and is often inherited from parents to their children.

    The study is designed to last about 12 months, with an additional option to continue in a longer-term extension for up to 48 months or more, depending on certain conditions. Initially, participants will go through a screening phase to make sure they meet the study requirements.

    Participants will then enter a period where their usual care treatment is maintained, with adjustments only made for safety reasons. Following this, they will be randomly assigned to either continue with their standard care or start taking encaleret. This part of the study allows both the doctors and participants to know which treatment is being used and to adjust the dosage based on blood calcium levels. After 20 weeks, there’s a period to maintain the dose before possibly moving on to the long-term extension phase, where encaleret will be continued.

    The main goal of the study is to see how many participants can reach and maintain their blood and urinary calcium levels within a target range by using encaleret compared to their standard treatments. This is important for managing the symptoms and health risks associated with ADH1.

    This study might be an opportunity for people with ADH1 to try a new treatment option and contribute to research that could help others with the same condition in the future.

    • Encaleret