Natural History Study for DNA Repair Disorders

University of Minnesota (UMN)

Status: Enrolling

Conditions: Xeroderma Pigmentosum; Cockayne Syndrome; DNA Repair Disorder; Trichothiodystrophy

Treatments: Other: Gait Assessment; Other: Interval History; Other: Physical Examination; Other: ECAB Assessment; Other: Specimen Sample Collection

Study type: Observational

Funder types: Other

Identifiers

NCT05484570

NEUR-2022-30942

Details and patient eligibility

About

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).

Full 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.

Enrollment: 40 estimated patients

Sex: All

Ages: 6+ months old

Volunteers: No Healthy Volunteers

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

Trial design

40 participants in 2 patient groups

Diagnosed

Description:

Patients who are diagnosed with a DNA Repair Disorder

Treatment:

Other: Specimen Sample Collection

Other: ECAB Assessment

Other: Gait Assessment

Other: Physical Examination

Other: Interval History

Control

Description:

Healthy family members of enrolled diagnosed participants.

Treatment:

Other: Specimen Sample Collection

Other: ECAB Assessment

Other: Gait Assessment