FDA approves AQNEURSA, first treatment for ataxia-telangiectasia

Overview

Updated Sep 21

About 1 in 40,000 people are born with ataxia-telangiectasia, a genetic disease that destroys the cerebellum and progressively strips muscle control, typically starting in early childhood. Until this week, no drug was approved for it anywhere in the world. IntraBio's AQNEURSA (levacetylleucine) just became the first.

AQNEURSA doesn't fix the mutated ATM gene behind A-T. Instead, the drug normalizes glucose metabolism and improves lysosomal and mitochondrial function, treating downstream metabolic damage. The pivotal trial lasted 12 weeks, so the open question is whether continued treatment preserves coordination over years.

Why it matters

For the first time, A-T patients have an approved drug that measurably improves coordination - but the disease's cancer and immune risks remain untouched.

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Key Indicators

-1.9

Ataxia improvement vs placebo

Mean treatment difference on the 40-point Scale for Assessment and Rating of Ataxia (SARA); p<0.001

Patients in pivotal trial

Aged 4-50 years across 10 trial sites in the US and Europe; 96% completed the study

1 in 40,000

A-T prevalence

Estimated share of people born with ataxia-telangiectasia

FDA-approved indications for AQNEURSA

Niemann-Pick disease type C (2024) and ataxia-telangiectasia (2026)

Voices

Curated perspectives — historical figures and your fellow readers.

People Involved

Mallory Factor

Chief Executive Officer, IntraBio Inc.

Leading IntraBio through its second FDA approval

Organizations Involved

IntraBio Inc.

Biopharmaceutical company

Developer and manufacturer of AQNEURSA; holds two FDA-approved indications

Austin, Texas-based biotech developing treatments for rare and common neurodegenerative diseases.

U.S. Food and Drug Administration

Federal regulator

Approved AQNEURSA for ataxia in A-T patients

US agency that regulates drugs and medical devices; granted AQNEURSA Orphan Drug designation and Priority Review for A-T.

Timeline

September 2024 September 2026

4 events Latest: September 21st, 2026 · 2 months ago

Tap a bar to jump to that date

September 2026
IntraBio announces approval; drug commercially available
Latest Announcement

AQNEURSA launched as the first and only approved treatment for ataxia-telangiectasia. Today's input event.
September 21st, 2026
FDA approves AQNEURSA for A-T ataxia
Regulatory Approval

First approved treatment for ataxia-telangiectasia anywhere in the world; Orphan Drug designation and Priority Review granted.
September 18th, 2026
July 2026
Phase 3 A-T findings published in The Lancet Neurology
Publication

Trial IB1001-303 shows 1.9-point SARA improvement vs placebo with no treatment-related serious adverse events.
July 2026
September 2024
FDA approves AQNEURSA for Niemann-Pick disease type C
Regulatory Approval

First US approval: neurological manifestations of NPC in adults and children weighing at least 15 kg.
September 2024

Scenarios

Two-year extension data confirms sustained ataxia benefit

Likely Resolves by End of 2027

Discussed by: IntraBio; preliminary extension findings published in The Lancet Neurology

The phase 3 trial's open-label extension keeps tracking treated patients, and 1-year data already show SARA scores 2.25 points below baseline. If 2-year data hold that gain, AQNEURSA becomes the standard of care for A-T ataxia, strengthening insurer coverage and physician adoption. Trigger: IntraBio publishes the 2-year extension analysis.

AQNEURSA expands to a third rare-disease indication

Possible Resolves by End of 2027

Discussed by: IntraBio frames the drug as a platform addressing shared metabolic dysfunction across neurodegenerative diseases

The drug's mechanism - normalizing glucose metabolism and improving lysosomal and mitochondrial function - is not disease-specific. A positive phase 3 readout or FDA approval in another rare neurodegenerative disease would confirm AQNEURSA as a platform molecule rather than a single-disease therapy. Trigger: IntraBio discloses phase 3 results or submits a new application.

Long-term follow-up shows A-T progression continues despite treatment

Possible Resolves by End of 2027

Discussed by: PharmaDeviceNews questioned whether a 12-week improvement changes a lifelong disease

A-T also causes cancer, immunodeficiency, and lung disease, none addressed by AQNEURSA. Washout data already show ataxia worsens within weeks of stopping the drug (mean +1.36 SARA points). If long-term follow-up shows steady decline despite continuous treatment, the drug will be positioned as a symptomatic hold that delays but does not stop progression. Trigger: 2-year extension data show SARA slipping back toward baseline.

Historical Context

3 moments from history that rhyme with this story — and how they unfolded.

December 2016

Spinraza for spinal muscular atrophy (2016)

The FDA approved nusinersen (Spinraza), the first treatment for spinal muscular atrophy, the leading genetic cause of infant death. The pivotal trial was stopped early because the treated group was clearly improving and surviving.

Then

SMA went from untreatable to treatable within months; gene therapy Zolgensma followed in 2019.

Now

Established that rare genetic neurological diseases could support viable drug markets, spurring a wave of rare-disease development.

Why this matters now

Like AQNEURSA for A-T, Spinraza was a first-ever treatment for a devastating genetic neurological disease. The contrast: Spinraza corrects SMN2 splicing upstream, while AQNEURSA treats metabolic dysfunction downstream - a broader, disease-agnostic strategy.

2009

Miglustat (Zavesca) for Niemann-Pick disease type C (2009)

The EU approved miglustat for progressive neurological manifestations of NPC, the same disease AQNEURSA was approved for in 2024. Zavesca was the first and for years only treatment for NPC.

Then

NPC patients gained a treatment option with modest efficacy.

Now

Demonstrated that small-molecule therapy could slow neurological decline in a lysosomal storage disease, though progression continued.

Why this matters now

AQNEURSA displaced Zavesca as the newer NPC option and now applies the same metabolic-correction logic to A-T. The parallel shows how the first treatment for a rare disease often becomes the stepping stone for better ones.

1991

Ceredase enzyme replacement for Gaucher disease (1991)

The FDA approved alglucerase (Ceredase), derived from human placental tissue, the first effective treatment for Gaucher disease, an inherited lysosomal storage disorder. Genzyme's drug turned a fatal childhood disease into a manageable chronic condition.

Then

Gaucher patients stopped dying of the disease; enzyme replacement became standard.

Now

Spurred the modern rare-disease drug industry and proved metabolic correction could work without gene therapy.

Why this matters now

Same architecture as AQNEURSA: a pharmacological intervention that corrects metabolism without repairing the gene. It proved treating downstream effects, not the mutation, can change patient lives.