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Scientists study rare DNA repair diseases to unlock cancer prevention secrets

NCT ID NCT00001813

Knowledge-focused Sponsor: National Cancer Institute (NCI) 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 17, 2026 · Updated 15 times

Summary

This study looked at people with three rare genetic conditions—xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)—that affect the body's ability to repair DNA. Researchers examined 709 participants to understand how these defects relate to cancer risk and other health problems. The goal was to better understand the role of DNA repair in preventing cancer, not to test a new treatment.

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 successful, this research could improve understanding of how DNA repair prevents cancer, potentially guiding future treatments for these rare diseases.
What could go wrong
This is an observational study, not a treatment trial. It aims to gather knowledge, not test a therapy, so direct patient benefits are unlikely.

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

709 people

The number who actually took part.

Started

May 1999

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

Patients will be sought by contacting professional organizations (such as the American Academy of Dermatology-XP Task Force), lay support groups (such as the XP Society and the Share and Care CS Support Network) or by direct referral. Healthy volunteers or NIH staff will be recruited through the Program for Healthy Volunteers ([email protected]), through the Patient Recruitment and Public Liaison Office ([email protected]), or as a self-referral through the clinicaltrials.gov web site (http://clinicaltrials.gov). Healthy volunteers may also be approached by a member of the LCBG, NCI regarding interest in participating on this protocol.

Ages

6 weeks to 100 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 CRITERIA: * Subjects age 6 weeks and above: * with clinical and/or laboratory documentation of typical features or suggestive clinical features of XP, CS, TTD, or overlap syndromes or * that are first degree relatives or other family members of participants with XP, CS, TTD, or overlap syndromes * Healthy volunteers of age 1 year and above (including NIH employees) willing to donate blood, skin, buccal cells, or hair. * Patients or legally authorized representatives must provide informed consent. EXCLUSION CRITERIA: -Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.

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Conditions

The condition(s) this trial relates to.

Cockayne syndrome hereditary skin disorder skin disorder skin neoplasm trichothiodystrophy Trichothiodystrophy Syndromes xeroderma pigmentosum xeroderma pigmentosum-Cockayne syndrome complex

As listed by the trial registrant

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

Cockayne syndrome Genodermatosis Skin neoplasms Trichothiodystrophy syndromes Xeroderma pigmentosum

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.