The skin microbiome in X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis

The skin microbiome in X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis - Skin microbiome in XRI and ARCI / MIXA

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51264

Enrollment

Registered

2021-08-06

Start date

2021-10-01

Completion date

Unknown

Last updated

2024-04-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis/fish skin disease

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: Patient group: Patients >= 16 years old with a clinically and via Sanger, molecular inversion probes and/or whole exome sequencing genetically confirmed form of: - X-linked recessive ichthyosis: with a mutation in or deletion of the STS gene. - autosomal recessive congenital ichthyosis: with mutations in the ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, SULT2B1, ST14 or TGM1 gene. Control groups: Skin microbiome data from healthy individuals and patients with AD and/or IV >= 18 and

Exclusion criteria

Exclusion criteria: - Body Mass Index greater than or equal to 35 or less than or equal to 18. - Use of any of the following drugs within the last 6 months: o systemic antibiotics (intravenous, intramuscular, or oral); o oral, intravenous, intramuscular, nasal or inhaled corticosteroids; o cytokines; o methotrexate or immunosuppressive cytotoxic agents; o large doses of commercial probiotics consumed (greater than or equal to 108 CFU or organisms per day) - includes tablets, capsules, lozenges, chewing gum or powders in which probiotic is a primary component. Ordinary dietary components such as fermented beverages/milks, yogurts, foods do not apply. - Use of topical antibiotics, antifungal or topical steroids within the previous 7 days. - Any confirmed or suspected condition/state of immunosuppression or immunodeficiency (primary or acquired) including HIV infection - History of active uncontrolled gastrointestinal disorders or diseases including: o inflammatory bowel disease (IBD) including ulcerative colitis (mild-moderate-severe), Crohn's disease (mild-moderate-severe), or indeterminate colitis; o irritable bowel syndrome (IBS) (moderate-severe); o persistent, infectious gastroenteritis, colitis or gastritis, persistent or chronic diarrhea of unknown etiology, Clostridium difficile infection (recurrent) or Helicobacter pylori infection (untreated); o chronic constipation. - Female who is pregnant or lactating.

Design outcomes

Primary

Measure	Time frame
The main endpoint will be to create an overview of the relative presence of the different bacterial genera in affected and non-affected skin of patients with XRI and ARCI.	—

Secondary

Measure	Time frame
The secondary parameters are: 1) Overview of the different bacterial genera in XRI and ARCI, and in different clinical phenotypes of ARCI. (2) Skin microbiota composition of XRI and ARCI patients compared with healthy individuals and patients with AE and/or IV. (3) Identification and isolation of specific clinical XRI and ARCI bacterial species for future follow-up studies regarding the pathogenesis of ichthyosis.	—

Measure

Time frame

The secondary parameters are: 1) Overview of the different bacterial genera in XRI and ARCI, and in different clinical phenotypes of ARCI. (2) Skin microbiota composition of XRI and ARCI patients compared with healthy individuals and patients with AE and/or IV. (3) Identification and isolation of specific clinical XRI and ARCI bacterial species for future follow-up studies regarding the pathogenesis of ichthyosis.

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Countries

Netherlands

Outcome results