Natural History Study for DNA Repair Disorders

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).

Conditions

DNA Repair Disorder, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy

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Study Overview

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Study Details

Study overview

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).

Natural History Study for DNA Repair Disorders

Natural History Study for DNA Repair Disorders

Condition
DNA Repair Disorder
Intervention / Treatment

-

Contacts and Locations

Minneapolis

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

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.

For general information about clinical research, read Learn About Studies.

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

Ages Eligible for Study

6 Months to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Minnesota,

Study Record Dates

2025-08