This week’s Rare Diseases update highlights regulatory decisions, late-stage clinical progress, strategic partnerships, and continued momentum in orphan-drug development across multiple rare conditions.
In Today’s Newsletter
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🦴 Efzimfotase alfa improves bone-health endpoint in MULBERRY [1] [Canada • 28 Jun 2026]
https://www.astrazeneca.com/media-centre/press-releases/2026/efzimfotase-alfa-demonstrated-improvements-in-bone-health-in-treatment-naive-patients-with-hypophosphatasia-at-week-25-in-mulberry-phase-iii-trial.html
Context: Efzimfotase alfa (AstraZeneca/Alexion; investigational enzyme replacement therapy) was studied in treatment-naïve children aged 2 to <12 years with hypophosphatasia.
Key point: MULBERRY Phase III met bone-health endpoints at week 25, including RGI-C and RSS improvements versus placebo.
Implication: May influence prescriber choice and payer reviews pending full data.
⚠️ EMA recommends Tavneos EU revocation [2] [EU • 26 Jun 2026]
https://www.ema.europa.eu/en/news/ema-recommends-revoking-marketing-authorisation-tavneos
Context: Tavneos (avacopan) is used in adults with severe, active GPA or MPA, two rare inflammatory blood-vessel diseases.
Key point: EMA’s CHMP said ADVOCATE study data can no longer be relied on after GCP and data-integrity concerns.
Implication: No new EU patients should start Tavneos if the European Commission confirms revocation.
🧬 Sarepta DMD sNDAs accepted by FDA [3] [US • 30 Jun 2026]
https://www.businesswire.com/news/home/20260630779541/en/Sarepta-Announces-FDA-Acceptance-of-sNDAs-for-AMONDYS-45-and-VYONDYS-53
Context: AMONDYS 45 (casimersen) and VYONDYS 53 (golodirsen) are exon-skipping therapies for Duchenne muscular dystrophy.
Key point: FDA accepted sNDAs seeking conversion from accelerated approval to traditional approval, with PDUFA on 28 Feb 2027.
Implication: May influence prescriber choice and payer reviews pending full data.
🤝 Ionis licenses ex-US zilganersen rights to Recordati [4] [ex-US • 25 Jun 2026]
https://www.fiercebiotech.com/biotech/ionis-bags-30m-recordati-ex-us-rights-near-approval-rare-disease-prospect
Context: Zilganersen (Ionis; antisense oligonucleotide) is under FDA review for Alexander disease, with an FDA decision expected by 22 Sep 2026.
Key point: Recordati paid $30 million upfront for ex-US rights, while Ionis retains US commercial responsibility.
Implication: Signals pipeline investment and modality expansion.
🧫 Ipsen to acquire Memo Therapeutics for potravitug [5] [France–Switzerland • 01 Jul 2026]
https://www.manilatimes.net/2026/07/01/tmt-newswire/globenewswire/ipsen-to-acquire-memo-therapeutics-ag-adding-first-in-class-bk-polyomavirus-antibody-expanding-rare-disease-portfolio/2376417
Context: Potravitug (Memo Therapeutics; BK polyomavirus monoclonal antibody) targets BKPyV infection in kidney-transplant patients.
Key point: Ipsen agreed to acquire Memo Therapeutics, with SAFE KIDNEY II data supporting a planned pivotal Phase II/III trial.
Implication: Signals pipeline investment and modality expansion.
✂️ ABO-101 receives EC orphan designation for PH [6] [EU • 25 Jun 2026]
https://www.globenewswire.com/news-release/2026/06/25/3317844/0/en/chiesi-group-and-arbor-biotechnologies-announce-abo-101-granted-orphan-drug-designation-by-european-commission-for-primary-hyperoxaluria.html
Context: ABO-101 (Chiesi–Arbor; investigational gene-editing therapy) is being developed for primary hyperoxaluria type 1.
Key point: The European Commission granted orphan-drug designation for primary hyperoxaluria.
Implication: Signals pipeline investment and modality expansion.
💊 YH35995 gains EU orphan status in Gaucher disease [7] [EU • 29 Jun 2026]
https://gaucherdiseasenews.com/2026/06/29/oral-gaucher-therapy-moves-ahead-eu-orphan-drug-status/
Context: YH35995 (Yuhan; oral substrate-reduction therapy) is designed to reach the brain and reduce glucocerebroside buildup.
Key point: EMA granted orphan-drug designation following a similar FDA decision in April 2026.
Implication: Signals pipeline investment and modality expansion.
❤️ Ninerafaxstat receives FDA orphan designation for nHCM [8] [US • 24 Jun 2026]
https://www.globenewswire.com/news-release/2026/06/24/3316762/0/en/imbria-pharmaceuticals-receives-fda-orphan-drug-designation-for-ninerafaxstat-for-symptomatic-non-obstructive-hypertrophic-cardiomyopathy.html
Context: Ninerafaxstat (Imbria; investigational oral therapy) is in Phase 2b FORTITUDE-HCM for symptomatic non-obstructive hypertrophic cardiomyopathy.
Key point: FDA granted orphan-drug designation for symptomatic nHCM.
Implication: Signals pipeline investment and modality expansion.
🫁 GRI-0621 receives FDA orphan designation for IPF [9] [US • 24 Jun 2026]
https://pulmonaryfibrosisnews.com/news/promising-oral-ipf-treatment-gri-0621-earns-fda-orphan-drug-designation/
Context: GRI-0621 (GRI Bio; oral tazarotene) was studied in adults with idiopathic pulmonary fibrosis alongside approved therapies.
Key point: FDA granted orphan-drug designation after Phase 2a data showed tolerability and directional lung-function and biomarker effects.
Implication: May influence prescriber choice and payer reviews pending full data.
Why it matters
- Rare-disease regulatory scrutiny remains high, with Tavneos facing possible EU withdrawal after GCP and data-integrity findings. [2]
- Neuromuscular and metabolic programs are moving through late-stage or regulatory pathways, including DMD, HPP, and Alexander disease. [1][3][4]
- Orphan-drug designations continue to support early and mid-stage development in genetically defined and underserved conditions. [6][7][8][9]
- Business development is concentrating on rare-disease assets with defined mechanisms and potential regulatory leverage. [4][5]
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FAQ
What did AstraZeneca report for efzimfotase alfa in hypophosphatasia?
AstraZeneca reported that efzimfotase alfa improved bone-health measures versus placebo at week 25 in treatment-naïve pediatric HPP. The source cites RGI-C and RSS improvements in MULBERRY Phase III. [1]
Why did EMA recommend revoking Tavneos in the EU?
EMA’s CHMP said the ADVOCATE study had GCP breaches and that the data used to support approval could no longer demonstrate efficacy. CHMP recommended no new patients start Tavneos and current patients switch to alternatives if revocation is confirmed. [2]
What is the FDA reviewing for AMONDYS 45 and VYONDYS 53?
FDA accepted Sarepta’s sNDAs seeking conversion of AMONDYS 45 and VYONDYS 53 from accelerated to traditional approval. The PDUFA target action date is 28 Feb 2027. [3]
What does Ipsen gain from acquiring Memo Therapeutics?
Ipsen would add potravitug, a Phase II BK polyomavirus antibody for kidney-transplant patients with BKPyV-associated nephropathy. The source says a pivotal Phase II/III trial is planned later in 2026. [5]
Which programs received orphan-drug designations this week?
ABO-101 received EC orphan designation for primary hyperoxaluria, YH35995 received EU orphan status for Gaucher disease, ninerafaxstat received FDA orphan designation for symptomatic nHCM, and GRI-0621 received FDA orphan designation for IPF. [6][7][8][9]
Entities / Keywords
Efzimfotase alfa, ALXN1850, AstraZeneca, Alexion, hypophosphatasia, HPP, MULBERRY, CHESTNUT, HICKORY, Strensiq, asfotase alfa
Tavneos, avacopan, EMA, CHMP, GPA, MPA, ADVOCATE, GCP, DILI, VBDS
Sarepta Therapeutics, AMONDYS 45, casimersen, VYONDYS 53, golodirsen, Duchenne muscular dystrophy, DMD, ESSENCE, sNDA, PDUFA
Ionis Pharmaceuticals, Recordati, zilganersen, Alexander disease, AxD, antisense oligonucleotide
Ipsen, Memo Therapeutics, potravitug, BK polyomavirus, BKPyV, BKPyVAN, SAFE KIDNEY II, SAFE KIDNEY III
Chiesi Group, Arbor Biotechnologies, ABO-101, primary hyperoxaluria, PH, PH1, redePHine
Yuhan Corporation, YH35995, Gaucher disease, substrate-reduction therapy, glucocerebroside, GBA1
Imbria Pharmaceuticals, ninerafaxstat, symptomatic non-obstructive hypertrophic cardiomyopathy, nHCM, FORTITUDE-HCM
GRI Bio, GRI-0621, tazarotene, idiopathic pulmonary fibrosis, IPF, iNKT cells, pirfenidone, nintedanib
References
- https://www.astrazeneca.com/media-centre/press-releases/2026/efzimfotase-alfa-demonstrated-improvements-in-bone-health-in-treatment-naive-patients-with-hypophosphatasia-at-week-25-in-mulberry-phase-iii-trial.html
- https://www.ema.europa.eu/en/news/ema-recommends-revoking-marketing-authorisation-tavneos
- https://www.businesswire.com/news/home/20260630779541/en/Sarepta-Announces-FDA-Acceptance-of-sNDAs-for-AMONDYS-45-and-VYONDYS-53
- https://www.fiercebiotech.com/biotech/ionis-bags-30m-recordati-ex-us-rights-near-approval-rare-disease-prospect
- https://www.manilatimes.net/2026/07/01/tmt-newswire/globenewswire/ipsen-to-acquire-memo-therapeutics-ag-adding-first-in-class-bk-polyomavirus-antibody-expanding-rare-disease-portfolio/2376417
- https://www.globenewswire.com/news-release/2026/06/25/3317844/0/en/chiesi-group-and-arbor-biotechnologies-announce-abo-101-granted-orphan-drug-designation-by-european-commission-for-primary-hyperoxaluria.html
- https://gaucherdiseasenews.com/2026/06/29/oral-gaucher-therapy-moves-ahead-eu-orphan-drug-status/
- https://www.globenewswire.com/news-release/2026/06/24/3316762/0/en/imbria-pharmaceuticals-receives-fda-orphan-drug-designation-for-ninerafaxstat-for-symptomatic-non-obstructive-hypertrophic-cardiomyopathy.html
- https://pulmonaryfibrosisnews.com/news/promising-oral-ipf-treatment-gri-0621-earns-fda-orphan-drug-designation/