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ichthyosis Clinical Trials

A listing of ichthyosis medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

Found 9 clinical trials
S Sara M Jones, RD

ADX-629 Therapy for Sjogren-Larsson Syndrome

This research study will determine whether orally administered ADX-629 is safe and has biochemical efficacy in patients with Sjögren-Larsson syndrome (SLS), a rare inherited disorder of fatty aldehyde metabolism The disease is caused by bi-allelic mutations in ALDH3A2, which results in deficient activity of fatty aldehyde dehydrogenase (FALDH) and leads …

18 - 50 years of age Both Phase 1/2
H Head of Clinical Operations

A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum (XP)

The CUV156 study will evaluate the safety of afamelanotide in XP-C patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the amount of UV light needed to cause DNA damage of skin cells, …

18 - 75 years of age Both Phase 2
H Head of Clinical Operations

A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum C and V

The CUV152 study will evaluate the safety of afamelanotide in XP-C and XP-V patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin. It will assess whether SCENESSE® increases the amount of UV light needed to cause DNA damage of …

18 - 75 years of age Both Phase 2
F For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Studies of Skin Microbes in Healthy People and in People With Skin Conditions

This study will examine microbes (e.g., bacteria, fungi, viruses) that live on human skin and how microbes contribute to health and disease. It will analyze healthy human skin and how the these microorganisms might change in patients with atopic dermatitis (AD), a skin condition also known as eczema. Healthy volunteers, …

2 - 100 years of age Both Phase N/A

FARD (RaDiCo Cohort) (RaDiCo-FARD)

The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families. Two types of indicators will be used to reach this …

- 100 years of age Both Phase N/A
O Omar Sherbini, MPH

The Myelin Disorders Biorepository Project

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade …

- 100 years of age Both Phase N/A
E Emma Guttman, MD, PhD

Defining the Skin and Blood Biomarkers of Ichthyosis

Ichthyosis is a group of genetic skin disorders that present with dry, thickened, scaly, or flaky skin. As of today, there is no cure or treatment. Doctors can only treat the dry skin with different types of emollients to soften the scale. A deeper understanding of this disease is required …

1 - 60 years of age Both Phase N/A
P Peter Kang, MD

Natural History Study for DNA Repair Disorders

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).

6 - 100 years of age Both Phase N/A
V Vanya Rossel, MD

Exploring Patient Reported Outcomes in Inherited Ichthyosis

The goal of this observational study is to learn about the presence of extracutaneous manifestations in patients with congenital ichthyosis. The main question it aims to answer is: Do patients with congenital ichthyosis experience extracutaneous manifestations? Participants will fill in questionnaires in which the investigators will explore whether patients experience …

16 - 100 years of age Both Phase N/A

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