31 Clinical Trials for Various Conditions
This is a randomized, double-blind and vehicle-controlled Phase III study to evaluate the safety and efficacy of topical TMB-001 0.05% ointment for the treatment of CI in subjects with either the RXLI or ARCI subtypes. In addition, a subset of preselected centers will recruit subjects in parallel with either the RXLI or ARCI subtypes for enrollment into an Optional Maximal Use arm for evaluation of the systemic exposure and safety of topical TMB-001 0.05% ointment for the treatment of CI. The Phase III Study is designed in three periods: • Period 1 - Induction (3 weeks): At the beginning of the 3-week Induction Period, eligible subjects will be randomized (2:1 ratio) to either TMB-001 0.05% once-a-day (QD) or Vehicle QD treatment, with use of mandatory standardized bland emollient (Cetaphil™) provided by the Sponsor. • Period 2 - Treatment (9 weeks): The dosing frequency in the 9-week treatment period will be increased in each treatment group to TMB-001 0.05% BID or Vehicle BID. Mandatory bland emollient will be discontinued. • Period 3 - Maintenance (12 weeks): At Week 12, eligible subjects in the TMB-001 treatment group will be randomized (1:1 ratio) to an open-label treatment with TMB-001 0.05% BID or TMB-001 0.05% QD. To be eligible, subjects must have achieved a ≥1-point reduction in IGA score from Baseline. Subjects with less than a 1-point reduction in IGA score from Baseline will be discontinued from the study. Vehicle-treated subjects who achieved \<1-point reduction in IGA score from Baseline are eligible to cross over to the TMB-001 0.05% BID treatment group. Subjects with a ≥1-point reduction in IGA score from Baseline will be discontinued from the study. Subjects at the end of the study or subjects discontinued from the study at any time will be followed-up for additional 2 weeks for AEs.
Ichthyosis
Efficacy and Safety of imsidolimab in Participants with Ichthyosis
Ichthyosis
The ichthyoses are a group of lifelong genetic disorders that share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. The vast majority are orphan disorders and are associated with extremely poor quality of life related to social ostracism from altered appearance, associated itchiness and discomfort, and functional limitations from the skin disease. Among the more common "orphan" forms of ichthyosis are autosomal recessive congenital ichthyosis (ARCI; includes lamellar ichthyosis/LI and congenital ichthyosiform erythroderma/CIE), Netherton syndrome (NS) and epidermolytic ichthyosis (EI). However, there are dozens of other syndromic and non-syndromic ichthyotic disorders as well. Therapy is time-consuming for patients or parents and is supportive, focusing on clearance of the scaling. There are no therapies based on our growing understanding of what causes the disease. We have recently found marked elevations in Th17/IL-23 pathway cytokines and chemokines in the skin of individuals with ichthyosis, most similar to the inflammatory pattern of psoriasis. While the significance of the high expression of Th17/IL-23 pathway genes across all forms of ichthyosis studied to date is unknown, the high expression of genes of the Th17/IL-23 pathway in psoriasis is thought to be causative for the disease manifestations. We propose that IL-12/IL-23 -targeting therapeutics will safely suppress the inflammation and possibly the other features of ichthyosis, improving quality of life. As a proof-of-concept study, we propose to treat children (6 years of age and higher) and adults with ichthyotic disorders with ustekinumab in an open-label trial to serially assess clinical response to and safety of ustekinumab for this group of disorders.
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 to develop better treatments. There are different types of cells and cell-produced signals (biomarkers) that are being studied in order to help find these new treatments. Looking at biomarkers has been successful in helping us to understand other skin disorders better. The purpose of this study is to determine which blood and skin biomarkers characterize ichthyosis. Hypothesis: We predict that the biomarkers correlating with disease activity in Netherton syndrome will be different than the biomarkers found to correlate with the lamellar and other ichthyosis phenotype.
Ichthyosis, Netherton Syndrome
The ichthyoses are a group of lifelong genetic disorders which share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation. There are no therapies based on growing understanding of what causes the disease. However, there have been recent discoveries of marked elevations in expression of interleukin-17A (IL-17A) and IL-17-related cytokines in the skin of individuals with ichthyosis, which may explain the inflammation. Investigators propose that IL-17-targeting therapeutics will safely suppress the inflammation and possibly the other features of ichthyosis, improving quality of life.
Ichthyosis, Autosomal Recessive Congenital Ichthyosis, Lamellar Ichthyosis, Congenital Ichthyosiform Erythroderma, Epidermolytic Ichthyosis, Netherton Syndrome
This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.
Ichthyosis
This is a multi-center, randomized, double-blind, vehicle-controlled, parallel-group study designed to evaluate the safety, pharmacokinetic (PK), and exploratory activity of topically-applied NS2 dermatologic cream administered once-daily (QD) to subjects with ichthyosis secondary to Sjögren- Larsson Syndrome (SLS). NS2 is expected to trap fatty aldehydes that are pathogenic in SLS patients, and thereby diminish the lipid-aldehyde adduct formation that likely results in ichthyosis associated with SLS, and potentially reduce the mild dermal inflammation characteristic of SLS.
Sjögren-Larsson Syndrome
The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. This registry is designed to identify people in the United States with the ichthyoses and other related disorders and to collect information about their skin ailment and how it has affected them. The database is available for review by approved research applicants. The registry is confidential and provides investigators a way to share information about studies and trials with potential participants while maintaining participants' privacy. Although the Registry is closed to new enrollment, it is still maintained in order to provide information related to understanding the diagnosis, pathophysiology, and treatment of ichthyoses. Support for studies continues and inquiries from investigators are welcomed.
Darier Disease, Hailey-Hailey Disease, Hyperkeratosis, Epidermolytic, Ichthyosis, Ichthyosis, Lamellar, Ichthyosis, X-Linked, Keratoderma
The purpose of this study is to estimate the effect of FSG (Kerecis) on hospital length of stay among adult patients with surgical wounds of at least 40cm2 requiring surgical debridement
Surgical Wound
The purpose of this study is to determine the between-arm difference in the proportion of subjects achieving complete closure of hard-to-heal venous leg ulcers (VLU) between Intact Fish Skin Graft plus standard of care (IFSG/SOC) versus standard of care alone (SOC) over 12 weeks.
Venous Leg Ulcer (VLU), Venous Leg Ulcers, Venous Leg, Nonhealing Venous Leg Ulcer
Multi-center, observational (i.e., non-interventional), open-label, real-world Registry on the Use of Kerecis Devices
Wounds, Pressure Ulcer, Diabetic Foot Ulcer, Venous Leg Ulcer, Surgical Wound, Soft Tissue Reinforcement
This prospective, randomized pilot study compares the use of a xenograft with PRP to a xenograft alone for chronic, nonhealing wounds.
Non-healing Wound
KB105-02 is an intrasubject randomized, placebo-controlled, double-blind study to evaluate the safety and efficacy of KB105 in children and adults with autosomal recessive congenital ichthyosis (ARCI).
Autosomal Recessive Ichthyosis
The purpose of this study is to investigate the efficacy and safety of two concentrations of topically applied ointment formulation of isotretinoin called TMB-001 (0.05% and 0.1% isotretinoin) in subjects 9 years of age and older for the treatment of congenital ichthyosis (CI), including recessive X-linked ichthyosis (RXLI) and autosomal recessive congenital ichthyosis-lamellar ichthyosis (ARCI-LI) subtypes. Funding Source FDA-OOPD
Congenital Ichthyosis
The purpose of this clinical evaluation is to collect patient outcome data on a commercially available 510K FDA-approved product that is derived from minimal processing of Atlantic cod fish skin: KerecisTM Omega3 Wound. In this trial, two groups of UT grade IA/1C diabetic foot ulcers (DFUs), full skin thickness or extending through the subcutaneous or fat layers but not into tendon, muscle, or bone will receive standard of care (SOC) treatment for their condition. Patients will be randomized to SOC treatment and a 510k FDA-approved collagen alginate dressing (Fibracol Plus) or SOC and KerecisTM Omega3 Wound. The primary endpoint is the percentage of index ulcers (the ulcers being treated in the study) healed at 12 weeks in which two groups that will be compared are SOC with Fibracol Plus or SOC with KerecisTM Omega3 Wound
Diabetic Foot Ulcer
This study is an intra-patient comparison of KB105 and placebo-administered Target Areas. The primary objectives of this study are to evaluate safety and Investigator Global Assessment (IGA) scale improvement of topically administered KB105.
TGM-1 Related Autosomal Recessive Congenital Ichthyosis
Objectives and rationale: Optimal burn management involves removing all the dead or burned tissue as early as feasible and cover with an autograft called split thickness skin graft (STSG) taken from the patient. This procedure creates a new wound on the patient and sometimes, when the burn covers very large portion of the patient body, there is a lack of healthy skin to use for this purpose. Under those circumstances, donated cadaver skin is used as a temporary coverage until the patient´s own donor site wound has healed enough to be used again. The proposed clinical study aims to determine if treatment with fish skin is an alternative to cadaver skin as a temporary coverage for debrided full-thickness burns prior to STSG in terms of autograft take, time to heal, quality of healing (scarring), pain and adverse effects.
Burns
This is a phase 2 randomized, multi-center, double-blind, vehicle controlled, 90 day, safety, efficacy, and systemic exposure study followed by a 90 day open-label extension of trifarotene cream in adults and adolescents with autosomal recessive ichthyosis with lamellar scale.
Lamellar Ichthyosis
The objective of this study is to determine and compare the safety and efficacy of topical 146-9251 cream and vehicle cream applied twice daily for 6 weeks in subjects with moderate to severe ichthyosis vulgaris (IV).
Ichthyosis Vulgaris
Congenital ichthyosis (CI) is a large, heterogeneous family of inherited skin disorders of cornification resulting from an abnormality of skin keratinization, such as scaling and thickening of the skin. Treatment options include keratolytic agents, which can abruptly lead to extensive shedding or peeling of scales. PAT-001 primarily acts as a keratolytic agent; thus, making it a potential drug candidate for the treatment of skin disorders associated with hyperkeratinization, such as CI. The current study intends to evaluate the safety and tolerability of PAT-001 in patients with CI of either the Lamellar or X-Linked subtypes.
Congenital Ichthyosis
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Atopic dermatitis, or eczema, is a common, chronic, relapsing and remitting problem in many children and affects 10-20% of the pediatric population. Itch is a predominant feature of this disease and is quite disruptive to daily activities of life. In addition to itch, it is characterized by markedly dry skin, small red bumps that may have fluid. Ichthyosis vulgaris is characterized by extremely dry, scaly skin with a fine white scale and increased amounts of lines noted on the palms. Filaggrin is a protein that is essential for the skin to function properly as a barrier and found to be mutated in some European patients with ichthyosis vulgaris and atopic dermatitis. This association has not been looked at in the African American population. Genomic DNA (gDNA) will be purified from buccal swabs using commercially available kits and analyzed.
Atopic Dermatitis, Ichthyosis Vulgaris
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.
Ichthyosis, Pruritus
Epidermal growth factor receptor (EGFR) signaling plays a key role in regulating epidermal cell proliferation, survival, and differentiation. Keratins form a scaffold with epidermal desmosomes that involves ErbB/ EGFR signaling and keratin deficiency makes keratinocytes more sensitive to EGFR activation. Erlotinib, an EGFR inhibitor, was approved 20 years ago for cancer treatment and is generally used at 150 mg daily in adults \>50 kg. While gastrointestinal and cutaneous side effects commonly occur at doses of 150 mg, adverse events occur less often at lower doses. We first reported erlotinib as effective for Olmsted syndrome, a rare hereditary EDD with painful PPK that results from variants in TRPV3. Erlotinib is now the treatment of choice for children and adults with Olmsted syndrome. Erlotinib is thought to inhibit formation of a complex that includes TRPV3, EGFR, and its primary skin-based ligand, TGF-a, which in turn regulates keratinocyte proliferation and differentiation. High-throughput screening to identify compounds that stabilize keratin filaments have also pointed to the EGFR pathway for targeting. Reviews and recent case reports have suggested the benefit of erlotinib for PC, Given these preliminary data, we hypothesize that EGFR activation is a characteristic feature of keratinopathies. Further, we expect that oral low-dose erlotinib will improve the scaling and skin thickening of the spectrum of keratinopathies and be tolerated by most patients. For those who experience pain, particularly from plantar involvement, we predict that erlotinib therapy will improve mobility and pain. Finally, we aim to find the mechanism by which erlotinib improves the phenotypes of the various keratinopathies to better understand these disorders and predict response. We will look specifically at the impact on differentiation vs. hyperproliferation and barrier function, as well as the immune modulatory effects of the erlotinib using a multi-omics approach.
Epidermolytic Ichthyosis, Palmoplantar Keratoderma, Pachyonychia Congenita
This is designated to validate patient-reported outcomes (PRO) measures in itch-specific pediatric skin conditions, such as atopic dermatitis, and examine the ability of a modified stigma instrument to assess the severity and type of stigma experienced in atopic dermatitis and other potentially stigmatizing conditions.
Atopic Dermatitis, Ichthyosis, Psoriasis
The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause. In some cases, these may include problems affecting organs other than the skin, such as the eyes, teeth and bones. Patients with inherited skin disorders, including Darier's disease (keratosis follicularis), lamellar ichthyosis, epidermolysis bullosa, cystic acne, and others, and their relatives may be eligible for this study. Patients will have a medical history, physical examination with particular emphasis on the skin, and routine blood tests. Additional procedures for patients and unaffected relatives may include: 1. Blood sample collection 2. Dental exam with X-ray of the jaw 3. Eye examination 4. X-rays of the skull, ribs, chest, hands, feet, spine, arms, or legs 5. Bone density scan 6. Photographs of the skin 7. Skin biopsies (removal of a small tissue sample under local anesthetic) 8. Buccal sample (gentle brushing inside the cheek to collect a cell sample) for gene studies Patients who request the results of their gene testing will be provided this information.
Genetic Skin Disease, Keratosis Follicularis, Lamellar Ichthyosis
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized inborn error of metabolism. The central hypothesis is that age of onset, other disease features, and disease biomarkers will be predictive of quality of life (QOL) and survival in SPLIS patients.
Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
The objectives of this clinical trial are to evaluate the safety and tolerability of topically applied ATR12-351, to understand what the body does to ATR12-351, and to observe treatment benefits of the drug in approximately 12 adult patients with Netherton Syndrome (NS). ATR12-351 will be applied to skin lesions on one side of the body, while the vehicle control will be applied to similar lesion on the other side of the body twice daily for 2 weeks.
Netherton Syndrome
Severe itch is a common symptom of many genetic skin disorders and leads to a negative impact on patient quality of life. The investigators hypothesize that: a) intervention with dupilumab will improve itch in patients with pruritic genetic inflammatory skin disorders, even those not recognized to be Th2-driven; and b) the administration of dupilumab will be well-tolerated, regardless of underlying genetic skin disorder. The total clinical study duration will be 26 months (104 Weeks). The treatment period will include a 16-week open-label phase and a 20-month long-term extension phase for those who qualify and wish to continue.
Skin Diseases
This research study will determine whether orally administered ADX-629 is safe and has biochemical efficacy in participants 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 to the build-up of harmful long-chain (C16-C20) aldehydes and alcohols. Accumulation of these lipids and their metabolic products in skin, brain and eyes is responsible for the symptoms, which persist lifelong. ADX-629 is an aldehyde trapping agent that is expected to eliminate fatty aldehydes and negate aldehyde toxicity, improve the biochemical abnormalities and have clinical efficacy for SLS. The primary objective of this clinical protocol is to determine whether ADX-629 is safe and tolerable for use in SLS subjects. The secondary objective is to determine the efficacy of ADX-629 in reversing the biochemical abnormalities in SLS. Exploratory objectives are to evaluate the short-term clinical effects of ADX-629 on neurologic, cutaneous and ophthalmologic disease in SLS. Participants will be treated with ADX-629 for 12 weeks and monitored for safety and biochemical efficacy.
Sjogren-Larsson Syndrome
Sjogren-Larsson syndrome (SLS) is a rare genetic disease in which patients typically exhibit ichthyosis (dry, scaly skin), intellectual disability, spasticity, seizures and a distinctive maculopathy. The purpose of this study is to define the clinical spectrum and natural history of Sjogren-Larsson syndrome, and identify biomarkers that correlate with disease phenotype while establishing a registry for future investigations of biochemical pathogenesis and therapy.
Sjogren-Larsson Syndrome (SLS)