Registry of adults with hypophosphatasia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational registry aims to track medical events in adult patients diagnosed with hypophosphatasia, a rare genetic disorder affecting bone health. The study will collect data on patients who have low alkaline phosphatase levels and exhibit rheumatological symptoms, regardless of confirmed genetic mutations. By following these patients over time, the registry seeks to improve understanding of the condition and its management. The study will involve multiple centers across France, allowing for a diverse patient population.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* men and women,
* aged 18 and over, with no upper age limit, who have had a total alkaline phosphatase value of less than 40 IU/l on at least 3 occasions, or at least a total alkaline phosphatase value below 40 IU/L and evidence of ALPL gene polymorphism
* with at least one rheumatological symptom.

Exclusion Criteria:

* transient hypophosphatasia: absence of confirmation of a value below 40 IU/l on at least 3 samples, lack of genetic confirmation
* secondary hypophosphatasia according to the expert rheumatologist (drugs, endocrine disease, other genetic disease...).

Where it's running

• CHU de Bordeaux- Hôpital Pellegrin Place Amélia Raba Léon - 12è étage - Rhumatologie -
  Bordeaux, France, France Recruiting
• CHU Lille
  Lille, France Recruiting
• Hospices Civils de Lyon
  Lyon, France Recruiting
• CHU Nice
  Nice, France Recruiting
• Lariboisière Hospital
  Paris, France Recruiting
• Cochin Hospital
  Paris, France Recruiting

Study contacts

• Study coordinator: Christian ROUX, MD, PhD
• Email: christian.roux@aphp.fr
• Phone: 0158412579

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• How a single ALPL gene change affects hypophosphatasia over time in Russia

  This observational study will follow children and adults with hypophosphatasia who carry one ALPL gene variant to see how their symptoms and health change during routine care in Russia.

  Recruiting at 3 sites AstraZeneca · Moscow and 3 other locations · NCT07390240

• Understanding Hypophosphatasia in Adults with Rheumatology Issues

  This study is trying to learn more about adults with hypophosphatasia who have joint and bone issues to help improve how they are diagnosed and treated.

  Recruiting University of Bonn · Bonn, North Rhine-Westphali · NCT06574282

• Observational study of pediatric hypophosphatasia patients receiving treatment

  This study is tracking kids with hypophosphatasia who are being treated with asfotase alfa to see how the treatment affects them over at least five years.

  Recruiting at 10 sites Alexion Pharmaceuticals, Inc. · Hartford, Connecticut and 11 other locations · NCT05234567

• Observing the natural history of hypophosphatasia

  This study is tracking patients with hypophosphatasia to better understand how the condition affects them and how it runs in families.

  Recruiting Duke University · Durham, North Carolina · NCT02237625

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

• Understanding the disease burden of hypophosphatasia in Chinese patients

  This study tests how hypophosphatasia affects people in China by collecting real-world data on symptoms, quality of life, and costs.

  Recruiting AstraZeneca · Beijing and 21 other locations · NCT07905287

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.