Hypophosphatasia
New hypophosphatasia research, summarized each month in plain language.
2026 so far: So far in 2026 (January 2026 to September 2026), insurance-claims data linked asfotase alfa to fewer billed fractures, and a three-adult case series described better mobility, while diagnostic studies stressed combining low ALP with PLP and genetics. Read the 2026 review
We also cover clinical trials.
Yearly update
2026 so far
- Enzyme replacement outcomes. Evidence broadened from claims data to adult and pediatric cases.
- Ups and downs on therapy. Reports highlighted fluctuating response and potential contributors over time.
- Pain and daily function. Registry studies clarified symptom burden beyond bone density labels.
- Making diagnosis clearer. Multiple studies converged on combining low ALP with add-on tests.
- Finding HPP in children. A structured pathway identified confirmed cases, carriers, and gray-zone suspects.
New
September 2026
- Early lab flag. Repeated low alkaline phosphatase helped sort cases from carriers.
- Long-term dental care. A dental guideline stressed long-term, team-based care planning.
- Immune cell enzyme. Adults had lower enzyme levels in immune cells; cause is unclear.
August 2026
- Low ALP clue. Very low ALP suggested HPP but did not confirm it.
- PLP blood test. PLP (a vitamin B6 marker) helped tell HPP from look-alikes.
- Pain and fractures. Registry data showed chronic pain and frequent fractures in adults.
- Single-patient reports. Case reports noted possible benefit and rare skull suture fusion.
July 2026
- Bone response changes. Asfotase alfa improved bone findings, but changes were not always steady.
- Antibody signal. In one child, rickets returned when neutralizing antibodies appeared.
- Sorting low ALP. Adding two related lab markers may help identify genetic low ALP.
- Overlapping diagnoses. In some reports, another genetic condition better fit severe symptoms.
June 2026
- Pain and muscle symptoms. Pain and muscle symptoms were common, even without bone problems.
- Daily life measures. Function and quality-of-life scores looked similar across HPP groups.
- Asfotase alfa reports. Some adults reported less pain and better walking after starting therapy.
- ALPL and teeth. ALPL results related to counseling experiences and some tooth findings.
May 2026
- Adult HPP scoring tool. A simple score helped distinguish adult HPP from other causes of persistently low alkaline phosphatase (ALP).
- Prenatal TNAP increase in mice. In a severe mouse model, increasing TNAP before birth was linked with better early survival and bone measures.
- Kidney disease and asfotase alfa in mice. In mice, chronic kidney disease was associated with reduced bone benefit from asfotase alfa and more kidney and blood-vessel calcification.
April 2026
- Fracture healing on scans. In one teenager, asfotase alfa was associated with fracture healing seen on follow-up imaging.
- Persistently low alkaline phosphatase. In one adult, years of low alkaline phosphatase levels were a key clue that led to a hypophosphatasia diagnosis.
- ALPL variants and enzyme activity. In infant twins, ALPL gene variants were linked to very low alkaline phosphatase activity.
March 2026
- Pseudofracture healing. One adult case report associated teriparatide treatment with healing of thigh pseudofractures seen on imaging.
- Blood marker changes. In the same report, alkaline phosphatase and vitamin B6–related markers moved into the normal range during follow-up.
- Longer-lasting enzyme in mice. In a mouse study, a gene-therapy–style approach restored alkaline phosphatase activity over time.
- Brain and tooth-cell findings. Mouse and cell studies linked low TNAP activity with changes in brain immune cells and in tooth-cell structure.
February 2026
- Adult diagnosis: tests matter. Adult hypophosphatasia criteria matched people better when ALPL genetic testing and key add-on lab markers were included, while symptoms alone did not separate groups well.
- Low enzyme in stool (early study). In a small comparison, alkaline phosphatase activity was low in stool as well as blood in people with HPP, but this is early research and not a routine test.
January 2026
- Fracture billing. Insurance claims showed fewer billed fractures after asfotase alfa.
- Mixed responses. People improved on asfotase alfa, but responses differed.
- Symptoms and tests. Lower alkaline phosphatase and weaker performance matched worse pain.
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