Clinical Trial Using Humira in Netherton Syndrome

NCT02113904 | Completed Phase 2 DMC

• 2 other identifiers: P1001502013-002205-54
• Study Type: interventional
• Target: 11
• Locations: 1 country
• Sites: 1

Brief Summary

The main objective of this studies therapeutic : to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment , with a post treatment period follow-up of 3 months. Second objectives are To evaluate the safety of Adalimumab in the context of NS To evaluate the improvement of the quality of life at 3 months To evaluate the improvement of pruritus and pain in the patients To study markers of inflammatory and allergy in NS prior and after treatment Benefit of the study An improvement by at least 20% of the cutaneous signs in these patients who suffer from a genetic incurable, chronic, painful and very afflicting disease would be of a great help for these patients. NS is a major source of social exclusion. Risks They are inherent to the risks of biotherapies, especially for an anti-TNF therapy, they comprise a risk of infection. Cutaneous infections occur mainly during infancy, and we have therefore chosen to treat patients over 4 years of age in this study. A close clinical surveillance will be set up (initially every week during the first month of treatment, then every month). This will represents a large number of visits but will provide a high level of security. Benefits/risks ratio In the absence of curative treatment for these patients with a severe genetic skin disease, the benefits/risks ration clearly appears to be in favour of an expected benefit.

Conditions

Netherton Syndrome

Keywords

Netherton syndrome; Adalimumab; TNF-alpha; Orphan genetic syndrome

Outcome Measures

Primary Outcomes (1)

• SN-EASI score and EASI score

  To evaluate the severity of specific netherthon syndrome clinical manifestation and the severity of atopic dermatitis before treatment, after three months of treatment, after a period of three months without treatment

  month 3

Secondary Outcomes (11)

• SN-EASI score and EASI score

  at inclusion before treatment

• SN-EASI score and EASI score

  month 6

• Number of participants with adverse events

  month 3

• CDLQI and DLQI

  at inclusion before treatment

• CDLQI and DLQI

  month 3

Study Arms (1)

Adalimumab

EXPERIMENTAL

Drug: Adalimumab

Interventions

Adalimumab DRUG

6 injections (one every 15 days during 3 months)

Also known as: Humira

Adalimumab

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patient over 4 years of age at the time of enrolment
• Patient with a clinical, immuno-histochemical and/or molecular diagnosis confirmed
• Vaccinations to date
• Informed consent form signed by the patient and/or his parents (or the legal authority) if the patient is a child
• Patient with social security coverage

You may not qualify if:

• Ongoing severe infections
• Well known allergy to one of Adalimumab ingredients
• Allergy to xylocaine
• Ongoing treatment to immunosuppressive drugs and biotherapies
• History of malignancy
• Heart, renal, haematological and/or confirmed hepatic involvement
• Pregnant, or breastfeeding, patients
• Anomalies of the standard balance sheet: neutropenia \< 1000/mm3, polynucleose \> 12 000 / mm3 - lymphopenia \< 1000 / mm3 - anemia \< 9g / 100ml - thrombocytopenia \< 150 000 /mm3, thrombocytosis \> 500 000/mm3 - transaminase \> 3N

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Necker Enfants Malades hospital

Paris, Paris, 75015, France

Location

MeSH Terms

Conditions

Netherton Syndrome

Interventions

Adalimumab

Condition Hierarchy (Ancestors)

Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Skin Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Infant, Newborn, Diseases; Keratosis; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Antibodies, Monoclonal, Humanized; Antibodies, Monoclonal; Antibodies; Immunoglobulins; Immunoproteins; Blood Proteins; Proteins; Amino Acids, Peptides, and Proteins; Serum Globulins; Globulins

Study Officials

• Christine Bodemer, MD, PhD

  : Department of Dermatology, Necker Enfants malades hospital, University Paris Descartes 149 rue de sèvres 75015 Paris, France

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 2, 2014
• First Posted: April 15, 2014
• Study Start: January 27, 2014
• Primary Completion: December 20, 2016
• Study Completion: September 21, 2017
• Last Updated: April 8, 2026

Record last verified: 2017-10

Locations

FR (1)