Connective Tissue

Cutis Laxa

Also known as elastolysis, generalized elastolysis, loose skin syndrome

Cutis laxa encompasses a heterogeneous group of disorders characterised by loose, inelastic, redundant skin caused by deficient or fragmented elastic fibres in dermal and visceral connective tissue. Genetic forms range from isolated skin in

ORPHA:209 ↗Gene ELNGene ATP7AGene ATP6AP2 (multiple)Prevalence Fewer than 1 in 1,000,000 (severe congenital forms)Onset Congenital or early childhood (most genetic forms); adulthood (acquired)Genetic (multiple inheritance patterns) or acquired

16

studies recruiting now

as of 7 Sept 2026

188

studies registered in total

as of 7 Sept 2026

3

countries with a recruiting site

as of 7 Sept 2026

9 Jun 2026

most recent study posted

among recruiting studies

Recruiting trials

Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.

See all 16 recruiting studies

Where recruiting studies are running

Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.

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Patient organisations

Cutis Laxa InternationalePatient association
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About Cutis Laxa

Cutis laxa encompasses a heterogeneous group of disorders characterised by loose, inelastic, redundant skin caused by deficient or fragmented elastic fibres in dermal and visceral connective tissue. Genetic forms range from isolated skin involvement to severe systemic disease affecting the lungs (emphysema), cardiovascular system, and skeleton, while acquired forms typically follow an inflammatory trigger. The specific gene affected determines the inheritance pattern, organ involvement, and prognosis.

Common clinical features

Loose, pendulous, inelastic skin with premature aged appearanceEarly-onset pulmonary emphysema and respiratory insufficiencyVascular abnormalities including aortic aneurysm and tortuosityInguinal, umbilical, or diaphragmatic herniasBladder and bowel diverticulaDevelopmental delay and intellectual disability (in syndromic forms)Skeletal dysplasia and joint laxity

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Before you apply

Things trial teams commonly ask about for Cutis Laxa. Not eligibility rules; those are set by each study.

  • Genetic subtype must be confirmed prior to enrolment, as trials are frequently gene-specific (e.g. ELN haploinsufficiency vs. ATP7A-related vs. LTBP4-related forms).
  • Pulmonary function testing (spirometry, DLCO) and chest CT are standard baseline assessments for trials targeting systemic cutis laxa with emphysema.
  • For paediatric enrolment, developmental milestone records and neuroimaging may be required, particularly for ATP6AP2 and other syndromic subtypes.

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).