If you are a pregnant woman (aged 18 or over), with a confirmed genetic diagnosis of XLHED, expecting a boy and if your unborn son might be affected by XLHED, this section presents the 3 different periods of the study for you and your son.
If you choose to participate in this study, you will be asked to come to visits to the clinical site for each study period.
It is also recommended that you give birth at the clinical site.
Altogether, there will be 14 visits over 5 years.
The procedure is not generally considered to be painful, but the machine makes a loud noise. The procedure should not last more than 90 minutes.
As part of the first treatment visit, we will ask to interview you. This interview will be conducted remotely and you will not need to go to the clinical site for this. This interview will be conducted by a trained interviewer, the aim of which is to hear your viewpoints, experiences, feelings and opinions on XLHED and the ER004 treatment. This interview is recorded (audio only) and should last approximately 30 minutes.
No treatment will take place after your baby is born.
The follow-up period starts with the birth of your child and will last until your son is 5 years old.
After delivery, you will be asked to come to the clinical site for 9 more visits, with your son.
Medical examinations of your son will allow us to evaluate if the treatment has worked and how safe it is.
Each visit will last between a half and a full day. Slightly different tests will be conducted at different visits.
At these follow-up visits, your son will undergo many tests to check his XLHED symptoms and make sure he is doing well. These tests are all non-invasive.
The doctors will take a blood sample from your son on 3 separate follow up visits. Analysing your son’s blood will show very important information on how well your son has coped with the treatment.
Altogether, the blood volume taken over these 3 visits will represent about a teaspoon (6 mL). Blood will be drawn by a trained professional who is used to dealing with small infants.
It is important to assess the outcome of the treatment on your son’s tooth growth and his teeth will be examined at each visit.
At some visits, you will be asked to fill in questionnaires about your and your son’s quality of life. This should take no longer than 40 minutes.
As mentioned in the treatment period, we will ask to interview you again.
These interviews will be conducted in the same way as during the treatment period. Your child does not need to be present.
This interview is recorded (audio only) and should take approximately 1 hour.
You will also undergo some tests, but only at delivery and at the follow-up visit immediately after delivery, to ensure your health has not been affected by your son’s treatment.