Natural History Study for DNA Repair Disorders
University of Minnesota
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).
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…
Eligibility
- Age range
- 0+ years
- Sex
- All
- Healthy volunteers
- Not specified
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 * Micro…
Interventions
- OtherInterval History
The study coordinator or another team member will review standard health questions relevant to DNA repair disorders. The control group will not undergo an interval history. These questions will include: 1. How the participant's appetite and general weight trajectory has been since the last assessment 2. Any episodes of unexplained bleeding or bruising 3. Any jaundice 4. General level of alertness and interaction with family and others 5. Any changes in cognitive function such as speech, following commands, comprehension 6. Any changes in motor function, including the development of tremors and stiffness in movements
- OtherPhysical Examination
A board-certified neurologist (the principal investigator) will perform a general physical examination and a neurological examination and complete a standard CRF to document relevant findings. The control group will not undergo a physical examination.
- OtherECAB Assessment
An Early Clinical Assessment of Balance (ECAB) will be performed by the physical therapist. Part I can be assessed in all affected individuals, and Part II requires ambulation. For non-ambulatory individuals, only Part I will be applied. The items in the ECAB are summarized as follows: Part I. Head and trunk postural control (maximum 36 points) Head righting - lateral (right and left) Head righting - extension Head righting - flexion Rotation in trunk (right and left) Equilibrium reactions in sitting (right and left) Protective extension - side Protection extension - backward Part II. Sitting and standing postural control (maximum 64 points) Sitting with back unsupported but feet supported on floor or on a stool Sitting to standing Standing unsupported with eyes closed Standing unsupported with feet together Turns 360 degrees Placing alternate foot on the step while standing unsupported
Location
- University of Minnesota- Twin CitiesMinneapolis, Minnesota