DNA Repair DisorderNCT05484570
Natural History Study for DNA Repair Disorders
An observational study of DNA Repair Disorder and Cockayne Syndrome, run by University of Minnesota at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 6 months and older
- Conditions the study is for
- DNA Repair Disorder, Cockayne Syndrome, Xeroderma Pigmentosum
- What is being tested?
- Interval History, Physical Examination and ECAB Assessment
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Oct 2022to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months and older
- All sexes
- Child, Adult, Older adult
Study population: Any person 6 months or older who is either diagnosed with a DNA repair disorder, or has a family member who is diagnosed with a DNA repair disorder
Who may be able to join
- 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
Show all 14Show fewer
- 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
Who cannot join
- Any prior history of systemic gene or cell-based therapy
- Current participation in an interventional clinical trial
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Seth Stafki contact
United States1 site, 1 recruiting
- Recruiting
University of Minnesota- Twin Cities
Minneapolis, Minnesota, 55455
Peter Kang, MD, 612-626-7038, pkang@umn.edu
Seth Stafki, MBS, 612-626-4823, neurogenetics@umn.edu
About this study
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).
Read the detailed description
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). Our hypothesis is that a reliable and reproducible baseline natural history course can be established for DNA repair disorders using the Early Childhood Assessment of Balance (ECAB) as a primary endpoint and other measures as secondary and exploratory endpoints that may be used in future therapeutic clinical trials.
- Being tested
- Interval History, Physical Examination, ECAB Assessment, Gait Assessment, Specimen Sample Collection
- Medical subject headings
- DNA Repair-Deficiency Disorders, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Interval HistoryOther
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:
- How the participant's appetite and general weight trajectory has been since the last assessment
- Any episodes of unexplained bleeding or bruising
- Any jaundice
- General level of alertness and interaction with family and others
- Any changes in cognitive function such as speech, following commands, comprehension
- Any changes in motor function, including the development of tremors and stiffness in movements
Physical ExaminationOther
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 AssessmentOther
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 AssessmentOther
For ambulatory participants, the physical therapist will also assess standardized gait outcome measures, including:
- Gait Speed: may be measured over a 10 meter distance, assessing both "comfortable" walking speed and "fast" walking speed
- 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.
- 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)
- Dynamic Gait Index (DGI): assesses 8 balance challenges while walking
Specimen Sample CollectionOther
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.
| Study group | Role | What they receive |
|---|---|---|
| Diagnosed | Patients who are diagnosed with a DNA Repair Disorder Receives: Other: Interval History; Other: Physical Examination; Other: ECAB Assessment; Other: Gait Assessment; Other: Specimen Sample Collection | |
| Control | Healthy family members of enrolled diagnosed participants. Receives: Other: ECAB Assessment; Other: Gait Assessment; Other: Specimen Sample Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Longitudinal stability of cerebellar and gait function on neurological examination
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.
Measured: 3 years
Longitudinal stability of motor function using gait speed measurement
Longitudinal stability of motor function in study participants as assessed by gait speed measured over a 10 meter distance
Measured: 3 years
Longitudinal stability of motor function using 10 meter walk/run test
Measured: 3 years
Longitudinal stability of motor function using Timed Up and Go (TUG) test
Measured: 3 years
Longitudinal stability of motor function using the Dynamic Gait Index (DGI)
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2022
- Study start1 Oct 2022
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DNA Repair DisorderStudies of the same condition, open and under way.
- More trials run by University of MinnesotaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Minnesota
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Peter Kang, MD, Principal investigator, University of Minnesota
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05484570
- Sponsor's protocol ID
- NEUR-2022-30942
- Status last verified
- May 2026
- First submitted
- 12 Jul 2022
- Last updated
- 27 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: This study will be conducted in accordance with the following publication and data sharing policies and regulations: National Institutes of Health (NIH) Public Access Policy, which ensures that the public has access to the published results of NIH funded research. It requires scientists to submit final peer-reviewed journal manuscripts that arise from NIH funds to the digital archive PubMed Central upon acceptance for publication. This study will comply with the NIH Data Sharing Policy and Policy on the Dissemination of NIH-Funded Clinical Trial Information and the Clinical Trials Registration and Results Information Submission rule. As such, this trial will be registered at ClinicalTrials.gov. In addition, every attempt will be made to publish results in peer-reviewed journals.
Study at a glance
From the registry record, last updated by the sponsor on 27 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study for DNA Repair Disorders
- ClinicalTrials.gov ID
- NCT05484570
- Acronym / sponsor ID
- NEUR-2022-30942
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University of MinnesotaUniversity, hospital or other
- Study start
- 1 Oct 2022 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 2 Aug 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
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). Our hypothesis is that a reliable and reproducible baseline natural history course can be established for DNA repair disorders using the Early Childhood Assessment of Balance (ECAB) as a primary endpoint and other measures as secondary and exploratory endpoints that may be used in future therapeutic clinical trials.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Diagnosed | – | Other: Interval History, Other: Physical Examination, Other: ECAB Assessment, Other: Gait Assessment, Other: Specimen Sample CollectionPatients who are diagnosed with a DNA Repair Disorder |
| Control | – | Other: ECAB Assessment, Other: Gait Assessment, Other: Specimen Sample CollectionHealthy family members of enrolled diagnosed participants. |
Who may qualify
- Ages
- 6 months and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Any person 6 months or older who is either diagnosed with a DNA repair disorder, or has a family member who is diagnosed with a DNA repair disorder
Key inclusion criteria (14 listed)
- 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)
Key exclusion criteria (2 listed)
- Any prior history of systemic gene or cell-based therapy
- Current participation in an interventional clinical trial
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Interval HistoryThe 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 | Other | Diagnosed |
| Physical ExaminationA 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. | Other | Diagnosed |
| ECAB AssessmentAn 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 | Other | Control, Diagnosed |
| Gait AssessmentFor 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 | Other | Control, Diagnosed |
| Specimen Sample CollectionTotal 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. | Other | Control, Diagnosed |
Primary outcome
Longitudinal stability of cerebellar and gait function on neurological examination
Time frame: 3 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 measurement
Time frame: 3 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 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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 2026.
- Individual participant dataSharing planned: Yes. This study will be conducted in accordance with the following publication and data sharing policies and regulations: National Institutes of Health (NIH) Public Access Policy, which ensures that the public has access to the published results of NIH funded research. It requires scientists to submit final peer-reviewed journal manuscripts that arise from NIH funds to the digital archive PubMed Central upon acceptance for publication. This study will comply with the NIH Data Sharing Policy and Policy on the Dissemination of NIH-Funded Clinical Trial Information and the Clinical Trials Registration and Results Information Submission rule. As such, this trial will be registered at ClinicalTrials.gov. In addition, every attempt will be made to publish results in peer-reviewed journals.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Seth Stafki contact
Peter Kang, MD principal investigator
University of Minnesota
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of DNA Repair Disorder and Cockayne Syndrome, run by University of Minnesota at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Seth Stafki (neurogenetics@umn.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Longitudinal stability of cerebellar and gait function on neurological examination (time frame: 3 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 May 2026.