Rare Diseases Today—March 12, 2026

This week’s Rare Diseases update highlights regulatory approvals, gene therapy filing progress, expanded diagnostic access, new partnerships, and continued advancement of late-stage clinical development.

In Today’s Newsletter

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🧬 Therna Biosciences teams with Charles River on single-patient RNA medicines [1] [05 Mar 2026]

https://sg.finance.yahoo.com/news/therna-announces-collaboration-charles-river-130000083.html
Context: Therna Biosciences and Charles River are starting with an mRNA program for an adult with ultra-rare lung fibrosis and an ASO program for a newborn with Lamb-Shaffer syndrome.
Key point: Therna said its AI-enabled platform generated the lead mRNA candidate in three days, and Charles River is advancing preclinical work toward a single-patient IND later in 2026.
Implication: Signals pipeline investment and modality expansion.

💉 Elfabrio gains EU approval for every-four-weeks dosing in Fabry disease [2] [EU • 09 Mar 2026]

https://www.manilatimes.net/2026/03/09/tmt-newswire/globenewswire/chiesi-global-rare-diseases-and-protalix-biotherapeutics-announce-european-commission-approval-of-additional-dosing-regimen-of-every-four-weeks-for-elfabrio-pegunigalsidase-alfa/2296007
Context: The additional regimen applies to adults with Fabry disease who are stable on enzyme replacement therapy, based on the BRIGHT study and its extension.
Key point: Chiesi Global Rare Diseases and Protalix BioTherapeutics said the European Commission approved pegunigalsidase alfa 2 mg/kg every four weeks, extending the infusion interval from every two weeks.
Implication: May influence prescriber choice and payer reviews pending full data.

🧪 Sangamo moves ST-920 BLA forward with FDA in Fabry disease [3] [US • 09 Mar 2026]

https://investor.sangamo.com/news-releases/news-release-details/sangamo-therapeutics-advances-rolling-submission-bla-us-fda-st
Context: Sangamo said it has submitted the preclinical and clinical modules of the rolling BLA, and its antibody assay companion diagnostic has been submitted to FDA CDRH for PMA review.
Key point: Sangamo advanced the rolling BLA for isaralgagene civaparvovec (ST-920), with FDA agreement that 52-week annualized eGFR slope may support the accelerated approval pathway.
Implication: May influence prescriber choice and payer reviews pending full data.

🤝 Andelyn Biosciences launches nonprofit support platform for rare disease families [4] [US • 10 Mar 2026]

https://www.prnewswire.com/news-releases/andelyn-biosciences-establishes-the-andelyn-foundation-to-support-families-living-with-rare-and-ultra-rare-diseases-302707584.html
Context: The Andelyn Foundation will focus on awareness, fundraising, and family support, including proceeds directed to selected patient-founded organizations.
Key point: Andelyn Biosciences unveiled The Andelyn Foundation to support families living with rare and ultra-rare diseases through community engagement and funding activities.
Implication: May expand screening, initiation, and follow-up at scale.

🧫 GeneDx and Zevra open U.S. testing access for suspected NPC [5] [US • 10 Mar 2026]

https://www.businesswire.com/news/home/20260310450068/en/GeneDx-to-Launch-Genetic-Testing-Program-with-Zevra-Therapeutics-to-Support-Patients-with-Suspected-Niemann-Pick-Disease-Type-C
Context: The program offers GeneDx ExomeDx testing at no charge for eligible U.S. patients with suspected Niemann-Pick disease type C, with results stated to return in as little as three weeks.
Key point: GeneDx and Zevra Therapeutics launched a sponsored genetic testing program to help clinicians confirm or rule out NPC and guide clinical decision-making.
Implication: May expand screening, initiation, and follow-up at scale.

🌐 Palvella starts BEYOND mLM awareness campaign for microcystic lymphatic malformations [6] [US • 10 Mar 2026]

https://www.manilatimes.net/2026/03/10/tmt-newswire/globenewswire/palvella-therapeutics-launches-beyond-mlm-disease-awareness-campaign-for-microcystic-lymphatic-malformations-in-collaboration-with-leading-lymphatic-vascular-and-dermatology-nonprofit-organizations/2296821
Context: Palvella Therapeutics said the campaign was developed with CaNVAS, LGDA, LE&RN, PeDRA, and VAccess.org for patients, caregivers, and healthcare professionals.
Key point: Palvella launched BEYOND mLM, a disease-awareness website and campaign focused on education and support for people affected by microcystic lymphatic malformations.
Implication: May expand screening, initiation, and follow-up at scale.

🇨🇦 Koselugo approved in Canada for adults with NF1 plexiform neurofibromas [7] [Canada • 09 Mar 2026]

https://www.newswire.ca/news-releases/koselugo-approved-in-canada-for-plexiform-neurofibromas-in-adults-with-neurofibromatosis-type-1-881368957.html
Context: Health Canada based the decision on the Phase 3 KOMET trial in adults with NF1 and symptomatic, inoperable plexiform neurofibromas.
Key point: Alexion, AstraZeneca Rare Disease said Koselugo (selumetinib) was approved in Canada for adults, with the source citing a 20% objective response rate in the primary analysis.
Implication: May influence prescriber choice and payer reviews pending full data.

🏷️ Eledon secures FDA orphan designation for tegoprubart in liver transplantation [8] [US • 10 Mar 2026]

https://ir.eledon.com/news-releases/news-release-details/eledon-pharmaceuticals-announces-orphan-drug-designation-0
Context: Eledon said tegoprubart had previously received FDA orphan designation in pancreatic islet cell transplantation and ALS.
Key point: Eledon Pharmaceuticals announced FDA orphan drug designation for tegoprubart for prevention of allograft rejection in liver transplantation.
Implication: Introduces competition that may affect pricing and formulary access.

🧠 Lundbeck finishes randomization early in Phase 3 MASCOT trial [9] [09 Mar 2026]

https://news.cision.com/h–lundbeck-a-s/r/lundbeck-announces-last-patient-randomized-ahead-of-schedule-in-phase-3-mascot-trial,c4318514
Context: MASCOT is a global Phase 3 trial of amlenetug in multiple system atrophy, and Lundbeck said headline results are anticipated in Q3 2027.
Key point: Lundbeck announced last-patient randomization ahead of schedule in MASCOT, supporting development of amlenetug for multiple system atrophy.
Implication: May influence prescriber choice and payer reviews pending full data.

Why it matters

Fabry disease had two notable updates this week, one regulatory for Elfabrio in the EU [2], and one filing-progress update for Sangamo’s ST-920 gene therapy in the U.S. [3].
Rare disease infrastructure is expanding beyond drug development, with testing access from GeneDx and Zevra [5], community support from Andelyn [4], and education efforts from Palvella [6].
Regulatory momentum remains broad, spanning Canada approval for Koselugo in adult NF1 [7] and FDA orphan designation for tegoprubart in liver transplantation [8].
Precision and individualized medicine remain active themes, highlighted by Therna and Charles River’s single-patient RNA collaboration [1].
Late-stage pipeline execution also advanced, with Lundbeck completing Phase 3 MASCOT randomization in MSA ahead of schedule [9].

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FAQ

What changed for Elfabrio in Fabry disease this week?

Chiesi Global Rare Diseases and Protalix BioTherapeutics said the European Commission approved an every-four-weeks dosing option for Elfabrio in adults with Fabry disease who are stable on ERT. The source frames this as a reduced infusion burden for eligible patients. [2]

How far along is Sangamo’s ST-920 filing?

Sangamo said the rolling BLA began in December 2025 and that preclinical and clinical modules have now been submitted to the FDA. The company also said its antibody assay companion diagnostic was submitted to FDA CDRH for PMA review. [3]

What does the GeneDx and Zevra program do for NPC?

The program is intended to expand access to exome sequencing for U.S. patients with suspected Niemann-Pick disease type C. GeneDx said eligible patients may receive ExomeDx at no charge, with results returned to clinicians and patients. [5]

What was approved in Canada for adults with NF1?

Alexion, AstraZeneca Rare Disease said Health Canada approved Koselugo for adults with neurofibromatosis type 1 who have symptomatic, inoperable plexiform neurofibromas. The source ties the approval to Phase 3 KOMET data. [7]

What is Therna doing with Charles River?

Therna Biosciences and Charles River are collaborating on single-patient RNA therapeutics for severe, ultra-rare disorders. The first programs target ultra-rare lung fibrosis and Lamb-Shaffer syndrome, with Charles River handling preclinical development. [1]

What is the MASCOT trial testing?

Lundbeck said MASCOT is a global Phase 3 trial evaluating amlenetug in multiple system atrophy, a rare and fatal neurodegenerative disease. The company said the trial completed last-patient randomization ahead of schedule. [9]

Entities / Keywords

Therna Biosciences, Charles River, programmable RNA therapeutics, mRNA, ASO, Lamb-Shaffer syndrome, ultra-rare lung fibrosis
Chiesi Global Rare Diseases, Protalix BioTherapeutics, Elfabrio, pegunigalsidase alfa, Fabry disease, BRIGHT study
Sangamo Therapeutics, ST-920, isaralgagene civaparvovec, Fabry disease, rolling BLA, eGFR
Andelyn Biosciences, The Andelyn Foundation, rare disease families, ultra-rare diseases
GeneDx, Zevra Therapeutics, Niemann-Pick disease type C, NPC, ExomeDx, GeneDx Infinity
Palvella Therapeutics, BEYOND mLM, microcystic lymphatic malformations, microcystic LMs, CaNVAS, LE&RN, PeDRA
Alexion, AstraZeneca Rare Disease, Koselugo, selumetinib, neurofibromatosis type 1, NF1, plexiform neurofibromas
Eledon Pharmaceuticals, tegoprubart, orphan drug designation, liver transplantation
Lundbeck, amlenetug, MASCOT, multiple system atrophy, MSA, α-synuclein