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Rare disease mystery: scientists track GACI and ARHR2 to unlock clues

NCT ID NCT03478839

Completed Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over time, which could help design future treatments.

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

If this study provides clear data on how these rare diseases progress, it could point toward potential treatments or management strategies.

What could go wrong

This is an observational study, not a treatment trial. It only collects existing medical records, so it cannot directly test any therapy or improve outcomes.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

arterial calcification of infancy autosomal recessive hypophosphatemic rickets autosomal recessive inherited pseudoxanthoma elasticum hypophosphatemic rickets, autosomal recessive, 1 hypophosphatemic rickets, autosomal recessive, 2

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS TYPE2 GENERALIZED ARTERIAL CALCIFICATION OF INFANCY

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States