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Natural History Study for DNA Repair Disorders

This study is looking at the natural progression of DNA repair disorders like Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD). Researchers want to understand how these conditions change over time and identify ways to measure these changes. You might be eligible if you have one of these diagnoses, confirmed by genetic testing or key symptoms, and experience certain neurodevelopmental or neurological issues like gross motor delay or language delay. The study involves reviewing your health history, a physical and neurological exam, and assessments of balance and walking. Success in this study means establishing a reliable way to track changes in cerebellar (brain area controlling balance and coordination) and walking function over three years.

Study design
This is an observational study, meaning no new treatments are being tested. It will involve up to 40 participants and is a single-center study, meaning it takes place at one location.
What's involved
You would have your health history reviewed, undergo a physical and neurological exam, and have balance and gait assessments. Blood or saliva samples may also be collected.
Compensation
Not stated in the trial record.
Follow-up
The study aims to track changes in function over three years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05484570

Natural History Study for DNA Repair Disorders

Recruiting
Not specifiedAges 6+Observational
University of Minnesota
~40 participants
Updated 2026-05-27 on ClinicalTrials.gov
What's tested:Interval HistoryPhysical ExaminationECAB AssessmentGait AssessmentSpecimen Sample Collection

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Longitudinal stability of cerebellar and gait function on neurological examination
Measured over 3 years
+4 more outcomes measured

Conditions

DNA Repair Disorder
Cockayne Syndrome
Xeroderma Pigmentosum
Trichothiodystrophy

Explore related trials

Cockayne SyndromeDNA Repair DisorderTrichothiodystrophyXeroderma Pigmentosum

NCT05484570

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of Minnesota- Twin Cities

    Minneapolis, Minnesotastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Peter Kang, MD · PRINCIPAL_INVESTIGATOR · University of Minnesota

Who to contact

Seth Stafki
[email protected]
Email the study team

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Eligibility criteria

Inclusion

Diagnosis of Cockayne syndrome (CS), xeroderma pigmentosum (XP), or trichothiodystrophy (TTD), based on genetic testing and/or key clinical characteristics l characteristics
Has one or more of the following neurodevelopmental or neurological complications
Gross motor delay (non-ambulatory or started walking after age 18 months)
Language delay (non-verbal or started talking after 18 months)
Altered muscle tone (hypertonia, dystonia, hypotonia)
Gait difficulties, including stiff gait, short stride, frequent falls, use of orthotics, use of walker
Tremors
Microcephaly
Is a family member of an individual with the above condition
No restrictions regarding current ambulatory status
Minimum age for enrollment eligibility will be 6 months due to fragility of neonates with severe forms of DNA repair disorders and limitations of motor assessment scales in infants younger than 6 months. There will be no maximum age for enrollment eligibility.
No restrictions regarding gender, race, or ethnicity.
Voluntary written consent from the participant if adult capable of consenting or parent/guardian if minor or not capable of consenting
Written consent of Legally Authorized Representative if enrolling adult lacks capacity to consent

Exclusion

Any prior history of systemic gene or cell-based therapy
Current participation in an interventional clinical trial

What this trial measures

  • Longitudinal stability of cerebellar and gait function on neurological examination3 years

    The longitudinal stability of cerebellar and gait function will be assessed by the presence or absence of tremors (absence = 1, presence = 0), dysmetria (absence = 1, presence = 0), dysdiadochokinesia (absence = 1, presence = 0) and Gowers sign (absence = 1, presence = 0). The scores will be added to yield a total score ranging from 0 to 4, with 4 representing the best performance.

  • Longitudinal stability of motor function using gait speed measurement3 years

    Longitudinal stability of motor function in study participants as assessed by gait speed measured over a 10 meter distance

  • Longitudinal stability of motor function using 10 meter walk/run test3 years
  • Longitudinal stability of motor function using Timed Up and Go (TUG) test3 years
  • Longitudinal stability of motor function using the Dynamic Gait Index (DGI)3 years