Natural History Study for DNA Repair Disorders

Launched by UNIVERSITY OF MINNESOTA · Jul 29, 2022

Keywords

ClinConnect Summary

This clinical trial is designed to learn more about DNA repair disorders, specifically conditions like Cockayne syndrome, xeroderma pigmentosum, and trichothiodystrophy. The study will follow participants over time to see how these disorders affect their daily lives and to identify potential markers that could help in understanding these conditions better. It is a non-interventional study, meaning that participants will not receive any experimental treatments; instead, researchers will observe and collect information from those involved.

To be eligible for this study, participants should have a confirmed diagnosis of one of the mentioned disorders and may experience certain neurological or developmental challenges, like delays in movement or speech, or difficulties with balance. The study welcomes individuals aged 6 months and older, regardless of gender or background. Participants will be asked to provide consent, either for themselves or through a parent or guardian if they are minors. This research aims to gather important insights that could improve care and support for those living with these rare conditions, while also ensuring that participants are not currently involved in other clinical trials or have received specific gene therapies.

Gender

ALL

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