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

NCT ID NCT03478839

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jul 17, 2026 · Updated 2 times

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

48 people

The number who actually took part.

Started

Apr 2018

Finished

Dec 2020

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Individuals with a diagnosis of GACI or ARHR2 who are males or females with sufficient chart data to be included in the study will be eligible for enrollment, as well as all their male and female siblings and both parents.@@@

Ages

1 year to 110 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION \& EXCLUSION CRITERIA: Based upon study purpose, participants enrolled in this protocol must: 1. Have genetic confirmation of one of the following: 1. GACI due to ENPP1 or ABCC6 mutations 2. ARHR2 due to ENPP1 mutations 3. PXE due to ABCC6 or ENPP1 mutations AND/OR Carry the clinical diagnosis of GACI, ARHR2 or PXE 2. Consent or, if applicable, assent to participate in the study 3. Have sufficient chart information to allow for the completion of at least one of the protocol s objectives.

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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

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