Take control: navigating daily life with ADH1 starts here.
ADH1 (autosomal dominant hypocalcemia type 1) is a genetic form of hypoparathyroidism characterised by low blood calcium levels.1
ADH1 Current management
The primary goal of ADH1 care is to maintain calcium levels slightly below normal to prevent symptoms while also minimizing the risk of hypercalciuria and result kidney complications.1 Hypercalciuria means that the level of calcium in the urine is higher than normal, which can damage the kidneys.1
Vitamin D
(from supplements and diet) enhances calcium absorption
Calcium supplements
Since no medications are specifically approved for ADH1, management relies on calcium and active vitamin D supplements, which help manage symptoms but may contribute to long-term kidney damage by increasing calcium excretion in the urine via the kidneys (hypercalciuria).1 Because of this risk of complications, regular monitoring is crucial for people with ADH1.2
Monitoring
Regular monitoring is essential to assess calcium levels and kidney function to adjust treatment as needed and avoid treatment-emergent complications.2
Baseline tests are recommended to track key markers, including:2
Serum calcium
Magnesium
Phosphorus
25-hydroxyvitamin D
Urine creatinine
Urine calcium
These tests can be done using routine blood and urine samples. Symptoms should also be assessed regularly. This monitoring is primarily performed by endocrinologists and/or specialists.2
The need for better treatment options
While current management strategies help control symptoms, they do not address the underlying cause of ADH1.3 Despite treatment, many patients experience persistent symptoms, highlighting the need for more targeted therapies.
There is a clear unmet need for a tailored, effective, and well-tolerated treatment that directly targets the disease mechanism, improving long-term outcomes and quality of life.1
Bridging the Gap: Research into Targeted Therapies for ADH1
Researchers are actively investigating new treatments for ADH1 that target the underlying mechanisms of the disease. These investigational therapies aim to normalize blood and urine calcium levels. Clinical studies are evaluating whether such treatments might help improve long-term management of ADH1 in the future.1,3
Only a doctor or a qualified healthcare professional can guide and advise you on the availability of a study or potential treatment availability in your country.
Take action:
if you experience symptoms of low blood calcium or hypoparathyroidism, or you have a diagnosis of hypoparathyroidism with an unknown cause, speak with your doctor about genetic testing.
Eligibility, access and reimbursement of genetic testing may vary from country to country. Your doctor can advise you about options available in your country.
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- Roszko et al. J Bone Miner Res. 2022;37(10):1926-1935
- Bollerslev et al. Euro J Endocrinol. 2015;173(2):G1-G20
- Gafni et al. N Engl J Med. 2023;389:1245-1247