Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia (NCT02099552) | Clinical Trial Compass
CompletedNot Applicable
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
United States, France, Germany150 participantsStarted 2014-04
Plain-language summary
The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs.
Who can participate
Age range
36 Months
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Confirmed genetic diagnosis of XLHED
. Written informed consent of both parents (if reasonably available)
Exclusion criteria
. Medically-significant complications or congenital anomalies outside of those considered to be associated with the diagnosis or status of XLHED
. Having received an investigational study drug prior to enrollment. For subjects less than 6 months of age, the mother cannot have taken an investigational drug during her pregnancy.
. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists
. Presence of pacemakers
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this study has already been completed and was observational — meaning it tracked people with XLHED without giving any treatment — would my doctor be able to access the findings to better understand what the typical progression of XLHED looks like over time?
2This trial focused on documenting the 'natural history' of untreated XLHED, meaning how the condition unfolds on its own — does that information change anything about my doctor's current recommendations for managing my symptoms, like overheating risks or dental issues?
3Since this was a completed natural history study rather than a treatment trial, are there any active or upcoming treatment trials that built on what this study found that my doctor thinks might be worth exploring?
4The study measured the 'phenotype' of people with XLHED, meaning the range of physical features and how they vary — could my doctor use that kind of data to help predict which symptoms I or my child might be most at risk for, and how to monitor for them?
5Because this study was observational and not a treatment intervention, what does my doctor feel is currently the best available standard of care for XLHED based on what research like this has uncovered?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
To assess clinical course of untreated XLHED individuals
Timeframe: Up to 5 years of life
2
To assess the phenotype of untreated XLHED individuals