Clinical trial NCT05484570: Natural History Study for DNA Repair Disorders
Official title: Natural History Study for DNA Repair Disorders
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: DNA Repair Disorder
Cockayne Syndrome
Xeroderma Pigmentosum
Trichothiodystrophy
Lead sponsor: University of Minnesota
Sponsor class: OTHER
First posted: 2022-08-02
Enrollment: 40
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Any person 6 months or older who is either diagnosed with a DNA repair disorder, or has a family member who is diagnosed with a DNA repair disorder

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 with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).

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 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.

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

Primary outcomes:
measure: Longitudinal stability of cerebellar and gait function on neurological examination
timeFrame: 3 years
measure: Longitudinal stability of motor function using gait speed measurement
timeFrame: 3 years
measure: Longitudinal stability of motor function using 10 meter walk/run test
timeFrame: 3 years
measure: Longitudinal stability of motor function using Timed Up and Go (TUG) test
timeFrame: 3 years
measure: Longitudinal stability of motor function using the Dynamic Gait Index (DGI)
timeFrame: 3 years
Secondary outcomes:
Other outcomes:
measure: Exploratory
timeFrame: 3 years
Locations:
city: Minneapolis
country: United States
facility: University of Minnesota- Twin Cities
state: Minnesota
Study officials:
References: