Oftentimes, data and research play crucial roles in understanding more about both a disease or illness, and also how it impacts those affected. This is especially important in the rare disease realm, as many doctors or clinicians do not have as much – or even any – experience with certain rare conditions. In late June 2022, the HypoPARAthyroidism Association, Inc. shared that it was working to build hypoparathyroidism awareness and research through its newly launched Patient-Powered Data Platform.
The HypoPARAthyroidism Association is a 501(c)(3) nonprofit organization which aims to better the lives of those affected through research, advocacy, support, and education. For the development of the Patient-Powered Data Platform, the Association partnered with another nonprofit organization, RARE-X. There is no cost to patients or caregivers to participate. Additionally, patients and caregivers retain full control over who has access to patient health information.
According to the program page, patients first sign up before responding to a survey regarding health and medical history, treatments, quality-of-life, and other elements. Next, the data is aggregated on the platform, forming a data repository to contribute to better research and understanding. This will help healthcare providers and researchers learn more about hypoparathyroidism, while also spurring research that could be used to improve quality-of-life. By participating, the program page explains that you could:
- Inform researchers of how a disease or condition changes over time
- Speed up how long it takes to get treatments into the hands of those in need
- Enable the use of data as a placebo in clinical studies
- Reduce the length of time required to study new therapies
- Offer better data for clinical trial usage
If you or someone you love wants to contribute to this mission, you may start your journey here.
Hypoparathyroidism: An Overview
Hypoparathyroidism is a rare condition in which the parathyroid glands do not secrete enough parathyroid hormone (PTH). Normally, PTH plays a role in balancing calcium and phosphorus levels. However, deficient or low PTH causes increased phosphorus and low calcium levels, which contribute to symptoms. Hypoparathyroidism can be caused by surgery, autoimmune diseases, extensive cancer treatment around the face and/or neck, and low blood magnesium levels. Additionally, some individuals may have hereditary hypoparathyroidism. Symptoms of hypoparathyroidism can, but do not always, include:
- Painful menstruation
- Fatigue and general weakness
- Muscle cramping in the abdomen, face, and lower extremities
- Burning and/or tingling in the toes, lips, and fingertips
- Muscle twitching and spasms near the mouth, throat, hands, and arms
- Patchy hair loss
- Dry, coarse skin and brittle nails
- Depression and anxiety
- Hypocalcemia, hyperphosphatemia, and hypercalciuria
Some complications may also occur within this patient population. Potential complications may include:
- Kidney stones
- Cognitive dysfunction or slow cognitive development
- Cataracts
- Malformed teeth
- Short stature
- Calcium deposits in the brain
- Arrhythmias
- Heart failure
- Tetany
- Paresthesias
- Seizures
