Can medical records unlock the secrets of rare calcification diseases?
NCT ID NCT07745179
First seen Aug 04, 2026 · Last updated Aug 05, 2026 · Updated 1 time
Summary
This study looks back at medical records of people with two rare genetic conditions—ENPP1 deficiency and the early-onset form of ABCC6 deficiency—to map how these diseases progress over time. By collecting information on symptoms, imaging, and growth, researchers hope to better understand the natural course of these illnesses. The findings may help design and support future therapies for these conditions.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- This study could help researchers better understand these rare genetic diseases, potentially guiding the development of future treatments.
- What could go wrong
- As a retrospective review, it relies on existing records that may be incomplete or inconsistent, and it does not test any new treatment directly.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Birmingham Children's Hospital
Birmingham, United Kingdom
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Centre de References des Maladies Neuromusculaires (CRMN)
La Tronche, France
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Children's Hospital of Philadelpha
Philadelphia, Pennsylvania, 19104, United States
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Evelina London Children's Hospital
London, 19104, United Kingdom
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Hopital Necker-Enfants Malades
Paris, France
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Hospices Civils de Lyon
Lyon, France
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Royal Manchester University Hospital
Manchester, United Kingdom
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University Hospital Munster
Münster, Germany
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Rare disease detectives: new study maps how two genetic conditions unfold in children
- New hope for babies with rare calcification disease: first drug trial launches
- New hope for babies: drug targets rare genetic disorder that hardens arteries
- New registry aims to unlock secrets of rare genetic diseases
- Rare disease mystery: scientists track GACI and ARHR2 to unlock clues