Recruiting

Observational Study

Sponsor:

University of Minnesota

Code:

NCT05484570

Conditions

DNA Repair Disorder

Cockayne Syndrome

Xeroderma Pigmentosum

Trichothiodystrophy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Interval History

Physical Examination

ECAB Assessment

Gait Assessment

Specimen Sample Collection

Study Details

Brief summary:

This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).

Conditions

DNA Repair Disorder

Cockayne Syndrome

Xeroderma Pigmentosum

Trichothiodystrophy

Study ID

NCT05484570

Start date

Oct 1, 2022

Status verified date

May, 2026

Completion date

Dec 31, 2026

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 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 Criteria:

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

Study Design

Enrollment

40 participants

Anticipated

Interventions and Outcome Measures

Arms

Diagnosed

Patients who are diagnosed with a DNA Repair Disorder

Control

Healthy family members of enrolled diagnosed participants.

Interventions

Interval History

The study coordinator or another team member will review standard health questions relevant to DNA repair disorders. The control group will not undergo an interval history. These questions will include:

1. How the participant's appetite and general weight trajectory has been since the last assessment
2. Any episodes of unexplained bleeding or bruising
3. Any jaundice
4. General level of alertness and interaction with family and others
5. Any changes in cognitive function such as speech, following commands, comprehension
6. Any changes in motor function, including the development of tremors and stiffness in movements

Physical Examination

A board-certified neurologist (the principal investigator) will perform a general physical examination and a neurological examination and complete a standard CRF to document relevant findings. The control group will not undergo a physical examination.

ECAB Assessment

An Early Clinical Assessment of Balance (ECAB) will be performed by the physical therapist. Part I can be assessed in all affected individuals, and Part II requires ambulation. For non-ambulatory individuals, only Part I will be applied. The items in the ECAB are summarized as follows:

Part I. Head and trunk postural control (maximum 36 points) Head righting - lateral (right and left) Head righting - extension Head righting - flexion Rotation in trunk (right and left) Equilibrium reactions in sitting (right and left) Protective extension - side Protection extension - backward Part II. Sitting and standing postural control (maximum 64 points) Sitting with back unsupported but feet supported on floor or on a stool Sitting to standing Standing unsupported with eyes closed Standing unsupported with feet together Turns 360 degrees Placing alternate foot on the step while standing unsupported

Gait Assessment

For ambulatory participants, the physical therapist will also assess standardized gait outcome measures, including:

1. Gait Speed: may be measured over a 10 meter distance, assessing both "comfortable" walking speed and "fast" walking speed
2. 10-meter walk/run: timed assessment at fastest gait attainable. This assessment would be omitted for those participants who are determined to have a high fall risk.
3. Timed Up and Go (TUG): time to stand from a chair, walk 3 meters, go around a cone, and return to the chair (with or without an assistive device)
4. Dynamic Gait Index (DGI): assesses 8 balance challenges while walking

Specimen Sample Collection

Total blood volumes collected at each visit will be limited to 5mL/kg body weight, with a maximum of 18mL.

Saliva samples may be obtained if research is taking place where blood samples cannot be drawn or transferred.

Primary outcome measure

  • Longitudinal stability of cerebellar and gait function on neurological examination [ Time Frame: 3 years ]
  • Longitudinal stability of motor function using gait speed measurement [ Time Frame: 3 years ]
  • Longitudinal stability of motor function using 10 meter walk/run test [ Time Frame: 3 years ]
  • Longitudinal stability of motor function using Timed Up and Go (TUG) test [ Time Frame: 3 years ]
  • Longitudinal stability of motor function using the Dynamic Gait Index (DGI) [ Time Frame: 3 years ]

Central Contacts and Locations

Central contacts

Seth Stafki

neurogenetics@umn.edu

Locations

University of Minnesota- Twin Cities

Recruiting

Minneapolis, Minnesota, United States, 55455

Contacts

Peter Kang, MD

612-626-7038pkang@umn.edu

Seth Stafki, MBS

612-626-4823neurogenetics@umn.edu

More Information

Sponsor

University of Minnesota

Last update posted

May 27, 2026

Last verified

May, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Minnesota on 2026-05-27.