Natural History Study for DNA Repair Disorders

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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).

Eligibility
Participation Requirements
Sex: All
Minimum Age: 6 months
View:

• 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

Locations
United States
Minnesota
University of Minnesota- Twin Cities
RECRUITING
Minneapolis
Contact Information
Primary
Erin Aguero
neurogenetics@umn.edu
Time Frame
Start Date: 2022-10-01
Estimated Completion Date: 2026-12-31
Participants
Target number of participants: 40
Treatments
Diagnosed
Patients who are diagnosed with a DNA Repair Disorder
Control
Healthy family members of enrolled diagnosed participants.
Sponsors
Leads: University of Minnesota

This content was sourced from clinicaltrials.gov