Clinical trial · Observational
Natural History Study for DNA Repair Disorders
NCT05484570CI-TRIAL-00112721recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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).
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cockayne Syndrome | — | UNRESOLVED | — |
| DNA Repair Disorder | — | UNRESOLVED | — |
| Trichothiodystrophy | — | UNRESOLVED | — |
| Xeroderma Pigmentosum | — | UNRESOLVED | — |
Interventions
Interventions (5)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| ECAB Assessment | Other | — | UNRESOLVED |
| Gait Assessment | Other | — | UNRESOLVED |
| Interval History | Other | — | UNRESOLVED |
| Physical Examination | Other | — | UNRESOLVED |
| Specimen Sample Collection | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- Diagnosed
- description
- Patients who are diagnosed with a DNA Repair Disorder
- interventionNames
- Other: Interval History
- Other: Physical Examination
- Other: ECAB Assessment
- Other: Gait Assessment
- Other: Specimen Sample Collection
- label
- Control
- description
- Healthy family members of enrolled diagnosed participants.
- interventionNames
- Other: ECAB Assessment
- Other: Gait Assessment
- Other: Specimen Sample Collection
Primary outcomes (5)
- measure
- Longitudinal stability of cerebellar and gait function on neurological examination
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 6 Months
Show eligibility criteria text
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
References
Publications (0)
Data not yet available
No reference posted for this study.