RECRUITING

Natural History Study for DNA Repair Disorders

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Conditions

DNA Repair DisorderCockayne SyndromeXeroderma PigmentosumTrichothiodystrophy

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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).

Official Title

Natural History Study for DNA Repair Disorders

Quick Facts

Study Start:2022-10-01
Study Completion:2025-08
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05484570

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:6 Months
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Not specified
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Diagnosis of Cockayne syndrome (CS), xeroderma pigmentosum (XP), or trichothiodystrophy (TTD), based on genetic testing and/or key clinical characteristics l characteristics
  2. * Has one or more of the following neurodevelopmental or neurological complications
  3. * Gross motor delay (non-ambulatory or started walking after age 18 months)
  4. * Language delay (non-verbal or started talking after 18 months)
  5. * Altered muscle tone (hypertonia, dystonia, hypotonia)
  6. * Gait difficulties, including stiff gait, short stride, frequent falls, use of orthotics, use of walker
  7. * Tremors
  8. * Microcephaly
  9. * Is a family member of an individual with the above condition
  10. * No restrictions regarding current ambulatory status
  11. * 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.
  12. * No restrictions regarding gender, race, or ethnicity.
  13. * Voluntary written consent from the participant if adult capable of consenting or parent/guardian if minor or not capable of consenting
  14. * Written consent of Legally Authorized Representative if enrolling adult lacks capacity to consent
  1. * Any prior history of systemic gene or cell-based therapy
  2. * Current participation in an interventional clinical trial

Contacts and Locations

Study Contact

Erin Aguero
CONTACT
neurogenetics@umn.edu

Study Locations (Sites)

University of Minnesota- Twin Cities
Minneapolis, Minnesota, 55455
United States

Collaborators and Investigators

Sponsor: University of Minnesota

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-10-01
Study Completion Date2025-08

Study Record Updates

Study Start Date2022-10-01
Study Completion Date2025-08

Terms related to this study

Additional Relevant MeSH Terms

  • DNA Repair Disorder
  • Cockayne Syndrome
  • Xeroderma Pigmentosum
  • Trichothiodystrophy