Registry of adults with hypophosphatasia
Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia
This study is tracking adults with hypophosphatasia to see how the condition affects their bone health and symptoms over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 130 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 11 sites (Bordeaux, France and 10 other locations) |
| Trial ID | NCT05596539 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and over with a history of low alkaline phosphatase levels and at least one rheumatological symptom.
Not a fit: Patients with transient or secondary hypophosphatasia may not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could enhance the management and treatment of adult patients with hypophosphatasia, leading to better health outcomes.
How similar studies have performed: While there may be limited data on similar registries for hypophosphatasia, observational studies in rare diseases have shown promise in improving patient care and understanding of the condition.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Bordeaux, France and 10 other locations
- CHU de Bordeaux- Hôpital Pellegrin Place Amélia Raba Léon - 12è étage - Rhumatologie - — Bordeaux, France, France (Not_yet_recruiting)
- CHU Lille — Lille, France (Recruiting)
- Hospices Civils de Lyon — Lyon, France (Not_yet_recruiting)
- CHU Nice — Nice, France (Recruiting)
- Lariboisière Hospital — Paris, France (Recruiting)
- Cochin Hospital — Paris, France (Recruiting)
- CHU Poitiers — Poitiers, France (Recruiting)
- CHU Rennes — Rennes, France (Recruiting)
- CHU Saint-Etienne — Saint-Priest-en-Jarez, France (Recruiting)
- Les hôpitaux universitaires de Strasbourg — Strasbourg, France (Recruiting)
- CHU de Toulouse — Toulouse, France (Recruiting)
Study contacts
- Study coordinator: Christian ROUX, MD, PhD
- Email: christian.roux@aphp.fr
- Phone: 0158412579
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.