Skin and Connective Tissue Diseases

All Conditions

Diseases and Abnormalities at or Before Birth

Eye Diseases

Immune System Diseases

Neoplasms

Nervous System Diseases

Nutritional and Metabolic Diseases

Symptoms and General Pathology

Rare Diseases

Skin Diseases

Epidermolysis Bullosa

Pemphigoid, Benign Mucous Membrane

Pemphigoid, Bullous

Neurofibromatoses

Neurofibromatosis 1

Neurofibroma

Ichthyosis

Albinism

Ectodermal Dysplasia

Keratoderma, Palmoplantar

Pemphigus

Incontinentia Pigmenti

Nerve Sheath Neoplasms

Neoplasms, Nerve Tissue

Neoplasms by Histologic Type

Syndrome

Neoplastic Syndromes, Hereditary

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Peripheral Nervous System Diseases

Neuromuscular Diseases

Congenital Abnormalities

Skin Abnormalities

Skin Diseases, Genetic

Skin Diseases, Vesiculobullous

Autoimmune Diseases

Infant, Newborn, Diseases

Keratosis, Actinic

Keratosis

Abnormalities, Multiple

Eye Diseases, Hereditary

Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors

Hypopigmentation

Pigmentation Disorders

Metabolic Diseases

Conjunctival Diseases

Bullous Pemphigoid

Mucous Membrane Pemphigoid

Neurofibromatosis

Neurofibromatosis Type 1

Palmoplantar Keratoderma

Inborn Amino Acid Metabolism Disorder

Hypomelanotic Disorder

Christine BODEMER

Catherine PROST

Christine LEAUTE-LABREZE

Marie-Sylvie DOUTRE

Pierre WOLKENSTEIN

Pierre VABRE

Christophe BEDANE

Marie-Aleth RICHARD

Didier BESSIS

Christine CHIAVERINI

Emmanuelle BOURRAT

Philippe BERNARD

Pascal JOLY

Juliette MAZEREEUW-HAUTIER

Annabel MARUANI

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 objective :

1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and/or their family themselves in self-assessment.
2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.

FARD (RaDiCo Cohort) (RaDiCo-FARD)

National Cohort for Evaluation of the Burden of Rare Skin Diseases

Before 16 years old, we will focus on the burden of families. After 16 years old, the patient's parent will continue to answer to the family Burden questionnaire and the patient will start to answer to the adult's Burden questionnaire.

Institut National de la Santé Et de la Recherche Médicale, France

Musculoskeletal Diseases

Mouth and Tooth Diseases

Behaviors and Mental Disorders

Sclerosis

Cutis Laxa

Tuberous Sclerosis

Basal Cell Nevus Syndrome

Birt-Hogg-Dube Syndrome

Nevus, Pigmented

Nevus

Hamartoma

Neoplasms, Multiple Primary

Malformations of Cortical Development

Nervous System Malformations

Cysts

Odontogenic Cysts

Jaw Cysts

Bone Cysts

Carcinoma

Carcinoma, Basal Cell

Neoplasms, Glandular and Epithelial

Neoplasms, Basal Cell

Bone Diseases

Bone Diseases, Developmental

Jaw Diseases

Stomatognathic Diseases

Connective Tissue Diseases

Quality of Life

Tuberous Sclerosis Complex

Nevoid Basal Cell Carcinoma Syndrome

Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.

Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.

Ectodermal dysplasias consists of multiple inherited disorders that are characterised by abnormalities of the embryonic ectoderm, such as hair, nails, sweat glands or teeth.

This group are genodermatoses associated with the development of malignancies ((non-)cutaneous), such as basal cell nevus syndrome (BCNS), Birt-Hoog-Dubé syndrome, tuberous sclerosis, etc.

In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.

This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses.

Gaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling.

Qualitative interview

Fauve C van Veen, MD

Fauve C van Veen

Antoni Gostynski, MD, PhD

The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Investigating Perspectives of Patients With Genodermatosis and Healthcare Professionals on Reproductive Counselling

Qualitative evaluation of the perspectives and needs of patients with genodermatoses and their partners who wish to have children, as well as clinicians involved in the decision-making process and the consideration of reproductive options, such as prenatal diagnosis (PND), pre-implantation genetic testing (PGT), adoption, the use of donor gametes, refraining from having children, natural pregnancy without genetic testing or foster care. And assessing their level of knowledge on these reproductive options.

Maastricht University Medical Center

Psoriasis

Skin Neoplasms

Hypertriglyceridemia

Darier Disease

Teratogenesis

Keratoderma, Palmoplantar, Diffuse

Skin Diseases, Papulosquamous

Basal Cell Carcinoma, Multiple

Dermatologic Agents

All Drugs and Chemicals

Acitretin

This is a continuing study which evaluates the long-term safety and efficacy of oral acitretin in an open manner in the treatment of psoriasis, cutaneous disorders of keratinization, multiple basal cell carcinomas and other retinoid responsive diseases.

The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases

National Cancer Institute (NCI)

Pruritus

Skin Manifestations

Anti-Allergic Agents

Antiemetics

Central Nervous System Depressants

Gastrointestinal Agents

Herbal and Botanical

Diphenhydramine

Promethazine

Pramoxine

Lemon Balm

Avena sativa-containing body wash, body cream, and anti-itch balm

Regimen consisting of 3 topical agents containing Avena Sativa (oat) kernel flour: a body wash (type = cosmetic), a body cream (type = cosmetic), and an anti-itch balm (type = OTC monograph drug with 0.5% Pramoxine HCl)

Avena Sativa Skincare Regimen

Mario Lacouture, M.D.

This study will test the safety and efficacy of three topical agents containing oat kernel flour to determine how well they relieve skin dryness and itching related to cancer therapies. Participants will receive a body wash, a body cream, and an anti-itch balm to use at home for 4-6 weeks.

Many patients undergoing cancer therapies experience skin reactions like dry skin, rash, redness, itchiness, and hyperpigmentation. Dry skin and itching are especially common for those undergoing chemotherapy and targeted treatments.

Skincare products containing Avena sativa (oat) kernel flour have a long history of tolerance and efficacy in treating various skin conditions involving pruritus (itching) and xerosis (dry skin), as Avena sativa (oat) kernel flour is known for its skin protectant properties and soothing effects on skin. This study will evaluate the safety and efficacy of a regimen of three topical agents containing Avena sativa (oat) kernel flour for cancer patients experiencing mild to moderate pruritus and/or xerosis.

Participants will received the products at Baseline (Visit 1) and return to the clinical site at Week 5 +/- 1 week for Visit 2. In addition, questionnaires will be completed remotely between Baseline and Visit 2.

All participants will receive the same study regimen consisting of 3 products: a body wash, a body cream, and an anti-itch balm.

Study Determining Safety and Efficacy of Avena Sativa (Oat) Skincare Products for Treating Skin Dryness and Itching in Cancer Patients

A Single Center, Clinical Study to Determine the Safety and Efficacy of an Avena Sativa Skincare Regimen for Therapy-Related Pruritus and Xerosis in Cancer Patients

Johnson \& Johnson Consumer Inc. has an agreement with the Yale Open Data Access (YODA) Project to serve as the independent review panel for evaluation of requests for clinical study reports and participant level data from investigators and physicians for scientific research that will advance medical knowledge and public health. Requests for access to the study data can be submitted through the YODA Project site at http://yoda.yale.edu.

The investigator will evaluate subjects for overall xerosis (skin dryness) using the Common Terminology Criteria for Adverse Events (CTCAE) grading scale. For xerosis, the scale ranges from 1 (dryness covering less 10% of body surface area and no associated erythema or pruritus) to 3 (dryness covering greater than 30% of body surface area and associated with itching; limits daily self care activities of daily living). A "0" grade will be used to document subjects with no presence of the CTCAE skin adverse event symptoms for xerosis. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The investigator will evaluate subjects for overall pruritus (skin itching) using the Common Terminology Criteria for Adverse Events (CTCAE) grading scale. For pruritus, the scale ranges from 1 (Mild or localized; topical intervention indicated) to 3 (widespread and constant itching; limits daily self-care activities or sleep). A "0" grade will be used to document subjects with no presence of the CTCAE skin adverse event symptoms for pruritus. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The investigator will evaluate subjects for overall xerosis (skin dryness) using a 0 (none) to 3 (severe) scale. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The investigator will question subjects for overall pruritus (skin itching) using a 0 (none) to 3 (severe) scale. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The investigator will evaluate subjects for overall irritation using a 0 (none) to 4 (very severe) scale. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The subject will rate how well he/she tolerated the study regimen using the following choices: Well tolerated, tolerated, or not tolerated.

The investigator will rate how well the participant tolerated the study regimen using the following choices: Well tolerated, tolerated, or not tolerated.

The Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE) will be completed for Skin Dryness. The question asks subjects to rate the severity of their dry skin at its worst over the last 7 days from None to Very Severe on a 5-point scale. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE) will be completed for Itching. The question asks subjects to rate the severity of their itchy skin at its worst over the last 7 days from None to Very Severe on a 5-point scale. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The Skindex-16 is a dermatology-specific quality of life measuring tool. (The SKINDEX contact information and permission to use: Mapi Research Trust, Lyon, France. Internet: https://eprovide.mapi-trust.org). It contains 16 questions that ask subjects to rate how often over the last 7 days they have been bothered by various skin conditions on a scale of 0 (never bothered) to 6 (always bothered). The global score is the average score for all questions and is transformed to a linear scale ranging from 0 (never bothered) to 100 (always bothered) so a higher score indicates a lower quality of life. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The Skindex-16 is a dermatology-specific quality of life measuring tool (The SKINDEX contact information and permission to use: Mapi Research Trust, Lyon, France. Internet: https://eprovide.mapi-trust.org). It contains 16 questions that ask subjects to rate how often over the last 7 days have they been bothered by various skin conditions on a scale of 0 (never bothered) to 6 (always bothered). The Emotional subscale looks at the average score of questions 5-11 regarding emotion; the emotional score is transformed to a linear scale ranging from 0 (never bothered) to 100 (always bothered) so a higher score indicates a lower quality of life. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The Skindex-16 is a dermatology-specific quality of life measuring tool (The SKINDEX contact information and permission to use: Mapi Research Trust, Lyon, France. Internet: https://eprovide.mapi-trust.org). It contains 16 questions that ask subjects to rate how often over the last 7 days have they been bothered by various skin conditions on a scale of 0 (never bothered) to 6 (always bothered). The Symptoms subscale looks at the average score of questions 1-4 individual responses regarding symptoms; the symptoms score is transformed to a linear scale ranging from 0 (never bothered) to 100 (always bothered) so a higher score indicates a lower quality of life. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The Skindex-16 is a dermatology-specific quality of life measuring tool (The SKINDEX contact information and permission to use: Mapi Research Trust, Lyon, France. Internet: https://eprovide.mapi-trust.org). It contains 16 questions that ask subjects to rate how often over the last 7 days have they been bothered by various skin conditions on a scale of 0 (never bothered) to 6 (always bothered). The Functional subscale looks at the average score of questions 12 - 16 regarding daily functioning; the functional score is transformed to a linear scale ranging from 0 (never bothered) to 100 (always bothered) so a higher score indicates a lower quality of life. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Skin moisture will be measured with a Corneometer, with values ranging from 0 (no moisture) to 120 (most moisturized) arbitrary units. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

The amount of water lost through the skin will be measured with a Vapometer. Higher numbers indicate more water loss. Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Subjects will be asked to rate their overall skin dryness on a scale of 1 (very dry) to 10 (skin feels moisturized). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Subjects will be asked to rate their overall skin flakiness on a scale of 1 (flaking very apparent) to 10 (no visible flaking). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Subjects will be asked to rate their overall skin itchiness on a scale of 1 (very itchy) to 10 (not at all itchy). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 weeks).

Subjects will be asked to rate their overall skin roughness/texture on a scale of 1 (very rough) to 10 (not at all rough). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 weeks).

Subjects will be asked to rate their overall skin smoothness on a scale of 1 (not at all smooth) to 10 (very smooth). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Subjects will be asked to rate their overall skin softness on a scale of 1 (not at all soft) to 10 (very soft). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Subjects will be asked to rate their overall skin comfort on a scale of 1 (uncomfortable/irritated) to 10 (very comfortable/not at all irritated). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Subjects will be asked to rate the overall look and feel of their skin on a scale of 1 (not healthy looking) to 10 (healthy looking). Baseline will be compared to the subjects' final visit (Week 5 +/- 1 week).

Johnson & Johnson Consumer Inc. (J&JCI)

Xeroderma Pigmentosum

Precancerous Conditions

Photosensitivity Disorders

DNA Repair-Deficiency Disorders

The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of these reproductive options. By providing a complete overview, the investigators aim to improve reproductive counselling for these patients/couples with a desire to have children.

To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.

Reproductive Options in Inherited Skin Diseases

Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study

Outcomes of reproductive options such as prenatal diagnostics (PND) and preimplantation genetic testing (PGT) will be assessed, looking at indications, decision-making by professionals and/or the Dutch national indication committee as to whether or not to start a PGT procedure. The results of PND and PGT, pregnancy outcomes (success rates) and risks (i.e. the risk of miscarriage) will be summarised. The percentage of continuing pregnancies from prenatal screening techniques (especially PGT) will be calculated. In addition, the percentage of affected embryos will be calculated for different genodermatoses per PGT cycle using using the following formula: (number of affected embryos)/(total number of embryos)\*100%.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
FARD (RaDiCo Cohort) (RaDiCo-FARD)	NCT05954416	Inherited Epide... Ichthyosis Ectodermal Dysp... Incontinentia P... Neurofibromatos... Albinism Pemphigus Mucous Membrane... Palmoplantar Ke...		-	Institut National de la Santé Et de la Recherche Médicale, France
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling	NCT06330350	Quality of Life Ichthyosis Palmoplantar Ke... Epidermolysis B... Ectodermal Dysp... Basal Cell Nevu... Birt-Hogg-Dube ... Tuberous Sclero... Cutis Laxa Albinism	Qualitative int...	-	Maastricht University Medical Center
The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases	NCT00005660	Basal Cell Carc... Keratosis Palma... Psoriasis		-	National Institutes of Health Clinical Center (CC)
Study Determining Safety and Efficacy of Avena Sativa (Oat) Skincare Products for Treating Skin Dryness and Itching in Cancer Patients	NCT03796052	Ichthyosis Pruritus	Avena Sativa Sk...	18 Years - 75 Years	Johnson & Johnson Consumer and Personal Products Worldwide
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling	NCT06330350	Quality of Life Ichthyosis Palmoplantar Ke... Epidermolysis B... Ectodermal Dysp... Basal Cell Nevu... Birt-Hogg-Dube ... Tuberous Sclero... Cutis Laxa Albinism	Qualitative int...	-	Maastricht University Medical Center
Reproductive Options in Inherited Skin Diseases	NCT06330324	Ichthyosis Palmoplantar Ke... Epidermolysis B... Ectodermal Dysp... Basal Cell Nevu... Birt-Hogg-Dube ... Tuberous Sclero... Xeroderma Pigme... Cutis Laxa Albinism		-	Maastricht University Medical Center
FARD (RaDiCo Cohort) (RaDiCo-FARD)	NCT05954416	Inherited Epide... Ichthyosis Ectodermal Dysp... Incontinentia P... Neurofibromatos... Albinism Pemphigus Mucous Membrane... Palmoplantar Ke...		-	Institut National de la Santé Et de la Recherche Médicale, France

Spots Global Cancer Trial Database for ichthyosis

Every month we try and update this database with for ichthyosis cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for ichthyosis

Every month we try and update this database with for ichthyosis cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for ichthyosis cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.