One gene.
One drug.
One decade.
One billion dollars.
The current model treats each disease in isolation — most patients will never see a treatment developed in their lifetime.
One gene, one drug
No scalability, no shared learnings. Each disease starts from zero.
Economics don't work
$1B+ per drug means most rare diseases never attract the capital to begin development.
10+ years to approval
The timeline to get a drug approved exceeds what many patients can survive.
What if they're not 1,200 different diseases?
Rare metabolic diseases aren't as different as they appear. We believe many converge on shared metabolic hubs — and that a small set of naturally occurring molecules may unlock therapies across multiple diseases. We call them keystone metabolites: optimized by billions of years of evolution for human biology, each one capable of rescuing multiple distinct rare diseases.
Keystone visual — illustration to be placed here
One keystone metabolite. Multiple rare diseases.
Metabolis is the first biotech discovering and developing keystone metabolites as medicines across hundreds of rare metabolic diseases.
Three things just became true at once.
01
A pattern has emerged
The same metabolites repeatedly rescue distinct rare metabolic diseases. This isn't coincidence — it's biology revealing a new drug class.
02
AI-powered clinical studies
Regulatory-quality clinical data can now be generated at a fraction of traditional trial cost, through AI-powered, at-home patient studies designed to capture real-world patient outcomes.
03
Discovery is now scalable
For the first time, a single platform can systematically address hundreds of rare metabolic diseases. The bottleneck has been removed.
Our platform
Discovering keystones. Developing medicines.
Every experiment makes the next discovery faster. Our platform screens metabolites across hundreds of yeast disease models, tests rescue in yeast patient avatars and AI-powered clinical studies, and uses every result to train predictive models for identifying the next keystone metabolites and disease clusters — turning one program into many.
Step 01
Discover
Screen metabolites across hundreds of yeast disease models to identify keystone candidates across rare metabolic diseases.
Step 02
Prove
Test rescue in yeast patient avatars and AI-powered, at-home clinical studies — generating regulatory-quality evidence at a fraction of traditional trial cost.
Step 03
Develop
Advance keystone metabolites into medicines across multiple rare metabolic diseases — stacking programs, approvals, and learnings.
3 years
From discovery to clinical trial
See how our lead program went from yeast screen to Phase 1 in three years.
DHDDS-CDG is our proof of concept. Our platform is designed to scale — the same yeast screening approach that found NMN can be systematically applied across hundreds of rare metabolic disease models, identifying the next keystone metabolites and disease clusters.
NMN (nicotinamide mononucleotide) is our first keystone metabolite in clinical development, targeting DHDDS-CDG — a rare congenital disorder of glycosylation with no approved treatment.
In yeast models
NAD+ precursors rescue growth defects in the DHDDS yeast disease model — identifying NMN as a candidate keystone metabolite for DHDDS-CDG.
In patient organoids
NMN restores coordinated brain network activity in DHDDS-CDG patient brain organoids — validating the mechanism in human biology.
In patients
Functional movement improvement observed in patients following 6 months of daily NMN treatment.
Muffels et al. (under peer review)
Patient response
Before NMN
Rosie_0M_tandem_short.mov
6 months on NMN
Rosie_6M_tandem_short.mov
Path to approval
NDA submission targeted within 18–20 months.
Q2 2026
ODD & RPDD Filed
Orphan Drug Designation and Rare Pediatric Disease Designation applications submitted.
Q3 2026
First Patient Dosed — Phase 1
Phase 1 safety and tolerability study underway in DHDDS-CDG patients. NCT#07572825
Q4 2026
GMP NMN Manufacturing Complete
Good Manufacturing Practice NMN production finalized for Phase 3 pivotal study.
Q1 2027
First Patient Dosed — Phase 3
6-month AI-powered pivotal study begins. Designed to capture real-world patient outcomes at a fraction of traditional trial cost.
Q3 2027
Data Readout & Analysis
Primary and secondary endpoints from the Phase 3 pivotal study analyzed. Pivotal data package assembled.
Q4 2027
NDA Submission
NDA package submitted. Rare Pediatric Disease voucher eligibility established at approval — a saleable asset that funds the next program.
$200M+
Saleable Priority Review Voucher awarded at NDA approval
7 years
Orphan drug market exclusivity, stackable across multiple disease indications
$500M–$1B+
Estimated value per approved orphan drug program
Beyond rare disease. The longevity thesis.
Rare metabolic diseases are our proving ground. When a keystone metabolite rescues a severely broken metabolic pathway in a rare disease, it validates the biology in the most demanding conditions possible. We believe the keystone metabolites that rescue broken metabolism in rare inherited metabolic diseases are the same ones that will matter for longevity and healthy aging — and that rare disease is where you prove the biology first.
Team
Built by the people who've done this.
The Metabolis team has spent their careers inside rare disease — driving research from drug discovery to the clinic, building platforms, and advancing therapeutics to patients.
Co-Founder & CEO
Kristin Kantautas, PhD
Kristin believes rare disease drug development can be fundamentally rebuilt — that finding commonalities across diseases will unlock a new generation of therapies, no longer developed one disease at a time. As Co-Founder and CEO of Metabolis, she is building a new model for rare metabolic disease therapeutics, one designed to scale beyond the one-disease-at-a-time approach that has left most patients behind. Her discovery of NMN as a therapeutic candidate for DHDDS-CDG is now in Phase 1 clinical development, the company’s first program.
She has taken therapeutics from early discovery into clinical development across multiple rare metabolic diseases. At Perlara, she leads drug discovery and clinical translation programs in congenital disorders of glycosylation. At Cure SRD5A3, she leads the translational research program, where she identified and advanced atorvastatin for SRD5A3-CDG into a global multi-site clinical study.
She also created CDG Hub, the first global knowledge platform for the congenital disorders of glycosylation ecosystem, because the field needed it and no one else was building it.
She holds a PhD in Molecular Genetics from the University of Toronto.
Co-Founder & CSO
Ethan Perlstein, PhD
Ethan has spent his career building the infrastructure for rare disease drug discovery, from academic science to the clinic.
He trained as a chemical biologist at Harvard and Princeton, where he developed the evolutionary approach to drug discovery that underpins Metabolis's platform today. He went on to found Perlara PBC in 2014, the world's first biotech public benefit corporation, purpose-built to partner directly with rare disease families and a Y Combinator alumni company (W16). He was also co-founder and CEO of Maggie's Pearl, a clinical-stage biotech developing treatments for PMM2-CDG.
At Metabolis, Ethan brings deep scientific and operational expertise across the full arc of rare disease drug development, from discovery to clinical trial.
Medical Advisor & Study PI
Eva Morava-Kozicz, MD, PhD
Eva Morava-Kozicz is one of the world's leading clinician-scientists in inherited metabolic diseases, with over three decades of experience in the diagnosis, treatment, and clinical investigation of inborn errors of metabolism.
Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, she has dedicated her career to the development of therapies for congenital disorders of glycosylation — leading some of the first successful therapeutic interventions in previously untreatable CDG types and serving as Principal Investigator of the Frontiers in CDG Consortium.
At Metabolis, Dr. Morava-Kozicz serves as Medical Advisor and Principal Investigator for the clinical studies of NMN in DHDDS-CDG patients — bringing unmatched clinical expertise to the program.
Contact
Let's talk.
Metabolis is currently raising a pre-seed round.
We're looking for investors and partners who believe rare disease is the proving ground for the next generation of metabolic medicines.
Keystone visual — illustration to be placed here
