Status:

RECRUITING

Natural History Study for DNA Repair Disorders

Lead Sponsor:

University of Minnesota

Conditions:

DNA Repair Disorder

Cockayne Syndrome

Eligibility:

All Genders

6+ years

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 w...

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 w...

Eligibility Criteria

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

Key Trial Info

Start Date :

October 1 2022

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

December 31 2026

Estimated Enrollment :

40 Patients enrolled

Trial Details

Trial ID

NCT05484570

Start Date

October 1 2022

End Date

December 31 2026

Last Update

September 19 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

1

University of Minnesota- Twin Cities

Minneapolis, Minnesota, United States, 55455

Natural History Study for DNA Repair Disorders | DecenTrialz