Study identification

EU PAS number

EUPAS103733

Study ID

106711

Official title and acronym

Non-interventional study of patients with Netherton Syndrome to characterise the natural history of disease (Natural history of Netherton Syndrome)

DARWIN EU® study

No

Study countries

Austria
China
France
Germany
Italy
Japan
Netherlands
United Kingdom
United States

Study description

Netherton syndrome (NS) is a rare autosomal recessive disorder that manifests as congenital ichthyosis form erythroderma (CIE) at birth or shortly thereafter.
Epidemiological data on NS is scarce with no reliable data on the incidence.
At present, there is no approved therapy for NS from a regulatory perspective.
Effective management of the symptoms of NS requires a multi-disciplinary approach that targets the specific clinical characteristics of individual patients.
In the context of clinical development of spesolimab for NS, a better understanding of the natural history and real-world management and assessment is key to put results from clinical studies in perspective.
It is also important to understand the burden of NS in terms of the management of its complications and comorbidities.
A multi-country study with medical chart extraction and new data collection is necessary to reliably identify patients diagnosed with NS in real-world clinical practice settings and to collect data to describe patient characteristics, disease course, treatment patterns, healthcare resource utilisation and clinical outcomes.
As well, to better understand the factors that lead to the high burden of NS, primary data on clinician- and patient-reported outcomes should be collected using validated instruments that measure status and progression of skin and hair conditions and patient’s health-related quality of life (HRQoL).

Study status

Ongoing
Research institutions and networks

Institutions

Contact details

Paula Chakravarti

Primary lead investigator

Study timelines

Date when funding contract was signed

Planned:
Actual:

Study start date

Planned:
Actual:

Date of interim report, if expected

Planned:

Date of final study report

Planned:
Sources of funding
Pharmaceutical company and other private sector 

More details on funding

Boehringer Ingelheim
Regulatory

Was the study required by a regulatory body?

No

Is the study required by a Risk Management Plan (RMP)?

Not applicable