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Trial Title: Natural History Study for DNA Repair Disorders

NCT ID: NCT05484570

Condition: DNA Repair Disorder
Cockayne Syndrome
Xeroderma Pigmentosum
Trichothiodystrophy

Conditions: Official terms:
Xeroderma Pigmentosum
Cockayne Syndrome
Ichthyosis
Trichothiodystrophy Syndromes
DNA Repair-Deficiency Disorders

Study type: Observational

Overall status: Recruiting

Study design:

Time perspective: Prospective

Intervention:

Intervention type: Other
Intervention name: Interval History
Description: 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
Arm group label: Diagnosed

Intervention type: Other
Intervention name: Physical Examination
Description: 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.
Arm group label: Diagnosed

Intervention type: Other
Intervention name: ECAB Assessment
Description: 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
Arm group label: Control
Arm group label: Diagnosed

Intervention type: Other
Intervention name: Gait Assessment
Description: For ambulatory participants, the physical therapist will also assess standardized gait outcome measures, including: 1. Gait Speed: may be measured over a 10 meter distance, assessing both "comfortable" walking speed and "fast" walking speed 2. 10-meter walk/run: timed assessment at fastest gait attainable. This assessment would be omitted for those participants who are determined to have a high fall risk. 3. Timed Up and Go (TUG): time to stand from a chair, walk 3 meters, go around a cone, and return to the chair (with or without an assistive device) 4. Dynamic Gait Index (DGI): assesses 8 balance challenges while walking
Arm group label: Control
Arm group label: Diagnosed

Intervention type: Other
Intervention name: Specimen Sample Collection
Description: Total blood volumes collected at each visit will be limited to 5mL/kg body weight, with a maximum of 18mL. Saliva samples may be obtained if research is taking place where blood samples cannot be drawn or transferred.
Arm group label: Control
Arm group label: Diagnosed

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.

Criteria for eligibility:

Study pop:
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

Sampling method: Non-Probability Sample
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

Gender: All

Minimum age: 6 Months

Maximum age: N/A

Locations:

Facility:
Name: University of Minnesota- Twin Cities

Address:
City: Minneapolis
Zip: 55455
Country: United States

Status: Recruiting

Contact:
Last name: Peter Kang, MD

Phone: 612-626-7038
Email: pkang@umn.edu

Contact backup:
Last name: Natalya Alassy, MBS

Phone: 612-626-4690
Email: burla019@umn.edu

Start date: October 1, 2022

Completion date: August 2025

Lead sponsor:
Agency: University of Minnesota
Agency class: Other

Source: University of Minnesota

Record processing date: ClinicalTrials.gov processed this data on November 12, 2024

Source: ClinicalTrials.gov page: https://clinicaltrials.gov/ct2/show/NCT05484570

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