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"Confetti Skin, Beauty Within" is our blog about ichthyosis and its effect on our lives. Rachel and our three boys are affected with the form of ichthyosis called "icthyosis en confetti, type 2".

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Here's our summary of our best and most important posts of 2012.

Ongoing Ichthyoisis Research Studies Seeking Participants: Gene Discovery, Hearing Loss, CD5789, and Psychological Effects studies

We are currently aware of four separate research projects that are seeking people with ichthyosis to participate in their studies. These projects are Keith Choate’s Gene Discovery Project at Yale, Amy Paller’s Palmoplantar Keratoderma treatment with CD5789 study (sponsored by Galderma), the UK’s All Party Parliamentary Group on Skin survey, and the Harvard Hearing Loss Study.

The Gene Discovery Project at Yale
Keith Choate and his team have been working hard for the last 2 years on a project to discover all genetic mutations that cause ichthyosis. Their goal is to enroll 600 people affected by one of the rare forms of ichthyosis (i.e., all types except x-linked and vulgaris) who do not currently have a gene mutation identified. This includes people who have attempted to have genetic testing but who were unable to obtain a specific genetic diagnosis,  as well as people and families who have never gone through the process. To participate in the study, you have to be seeing a dermatologist.

The study calls for a blood draw and a health-history questionnaire. A kit will be sent to your doctor for the blood draw, so you will not have to travel. Every participant will need to do the blood draw.

It is possible that they will ask for a biopsy, especially if the gene causing the ichthyosis has not been previously isolated. The team is also trying to take clinical pictures of each type, so you may be asked to do that, as well.

Once isolated, the team will contact your doctor with the gene mutation you carry.

This is a win-win setup and I encourage you to contact them. You get your genetic testing for free, and researchers get better clinical data to help us find a cure.

Contact Brittany Craiglow at choatelab@yale.edu to get involved!

Disclaimer: We have participated in this study and our family has given numerous samples for it, and Dr. Choate and his colleagues have assisted our family with several medical issues.

Amy Paller / Galderma

This study is for people affected by Palmoplantar Keratoderma or Lamellar Ichthyosis, in the Chicago area for a 6 week period, and not on oral retinoids nor pregnant. It’s a topical cream under testing by Galderma.

Contact numbers to enroll or ask questions:
Northwestern University: 312.695.0287
Children’s Memorial Hospital: 312.227.6484

Disclaimer: Dr. Paller is also one of our family’s physicians.

APPGS Social and Psychological effects of Skin Diseases study:
The All Party Parliamentary Group on Skin has launched its inquiry into the social and psychological effects of skin diseases and is calling on all patients and family members to submit their comments via a short questionnaire.

If you are in the UK, please download the word document and provide your answers in the gaps provided. Completed questionnaires should be submitted via email to mark.johnson@appgs.co.uk by 5pm GMT on Friday 19th October. The Ichthyosis Support Group (ISG) in the UK were involved in this consultation process.

For more information visit the All Party Parliamentary Group on Skin website.

Harvard Hearing Loss Survey: 5-10 minutes to do, available online.

Researchers at harvard are conducting a research study to determine whether hearing loss is an important problem in patients with ichthyosis.  Their hypothesis is that since ichthyosis often involves in abnormal shedding of the skin, it’s possible that abnormal shedding also occurs in the ear canals or tympanic membranes, leading to hearing loss.  Excessive use of ointments for treatment of ichthyosis may also contribute to hearing problems.

Everyone with some form of ichthyosis can participate in the anonymous and voluntary survey.  Please contact Jennifer.Huang@childrens.harvard.edu with any questions or concerns.

Click here to access: Hearing Loss Survey

 

1 comment to Ongoing Ichthyoisis Research Studies Seeking Participants: Gene Discovery, Hearing Loss, CD5789, and Psychological Effects studies

  • Jose Alberto Ortiz Osalde

    Hello I am Jose Ortiz, I’m 27 years old, I’m from Mexico and I really interested in participate in all studies. I saw the articles and its very Good. How can I obtain a Blood Sample Kit for my dermatologist?

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