Cutis Laxa Clinical Trials 2026 — Find Recruiting Studies

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 appearance Early-onset pulmonary emphysema and respiratory insufficiency Vascular abnormalities including aortic aneurysm and tortuosity Inguinal, umbilical, or diaphragmatic hernias Bladder and bowel diverticula Developmental delay and intellectual disability (in syndromic forms) Skeletal dysplasia and joint laxity

Clinical Trial Eligibility Tips

What to know before applying to Cutis Laxa trials.

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.