Morquio A syndrome: Correcting the disease at its source
We are developing AAV9-GALNS, a single-dose gene therapy designed to reach bone and cartilage, where current treatments cannot.
A rare disease that destroys the skeleton from early childhood
Morquio A syndrome is a rare genetic disease caused by a deficiency of the GALNS enzyme. From around age 2, children develop progressive skeletal deformities, need repeated surgeries, and suffer respiratory complications and loss of mobility. There is currently no curative treatment.
Lifetime cost per patient of the current treatment, without resolving the disability.
Current treatment relieves symptoms but does not change the course of the disease
It does not reach bone
The enzyme does not effectively reach bone or avascular cartilage, so the skeletal dysplasia keeps progressing.
Lifelong infusions
Weekly intravenous infusions, indefinitely. No end point and no cure.
It does not address the cause
It replaces the enzyme from outside, but does not correct the genetic origin of the disease.
AAV9-GALNS: a single dose that targets the root cause
An AAV9 vector carrying the GALNS gene, given as a single intravenous dose. The body itself becomes a durable factory of the missing enzyme.
Reaches bone and cartilage, where other approaches fall short.
Instead of lifelong weekly infusions.
A sustained, endogenous source of GALNS.
One mechanism. One dose. One platform.
In the first animal model of Morquio A that faithfully reproduces the human phenotype, a single intravenous dose normalised the disease biomarker and corrected the skeletal pathology.
Bone
Correction of skeletal dysplasia, with keratan sulfate normalised in the growth plate.
Mechanism
GALNS activity restored and keratan sulfate normalised throughout the body.
Cartilage and function
Articular cartilage corrected and grip strength improved.
Trachea and heart
Correction of GAG storage across multiple organs.
Preclinical results published in Nature Communications (Bertolin et al., 2021;12:5343).
Starting with Morquio A. The platform goes further.
Bone correction with systemic AAV9 could be extended to other mucopolysaccharidoses with skeletal involvement.
Our focus is Morquio A. The other indications are future development lines and, for now, preliminary.
Three years to the first child treated
Followed by first-in-human dosing at clinical sites.
Born from patients, backed by pharma
Genomatech brings together the Morquio patient community and the capabilities of a leading pharmaceutical company to take the science from the lab to the children who need it.
The people behind Genomatech
A board combining experience in finance, investment, the pharmaceutical industry, technology and law.
Patricia Oliete Pérez
Co-founder · Board MemberOver 20 years of experience in finance and corporate management. Corporate Director and board member at PANGEA The Travel Store, independent M&A advisor and business angel. Formerly CFO of the Wamos travel group (formerly Pullmantur).
Carlos Núñez Insausti
Co-founder · Board MemberInvestment Director at Quarza Inversiones and co-founder and board member of Capital Farma. Over a decade in private equity, previously at L Catterton (Paris) and 3i.
Board Member
Board MemberBackground in innovation and technology.
I+DBoard Member
Board MemberBackground in the pharmaceutical industry.
Board Member
Board MemberBackground in the pharmaceutical industry.
Board Secretary
Board SecretaryBackground in legal advisory and corporate governance.
Latest from Genomatech
Programme updates, publications and company news will be shared here soon.
AAV9-GALNS programme updates
Preclinical, regulatory and manufacturing milestones.
Scientific publications
Results and articles in peer-reviewed journals.
Genomatech in the media
Interviews, events and press releases.
A rare disease. A need still unmet. We can change that.
Whether you are a researcher, clinician, family member or potential partner, we would love to hear from you.
Contact us