The Needle Issue #21


Welcome to The Needle, a newsletter from Haystack Science to help you navigate the latest translational research, with a roundup of the latest news on preclinical biotech startups from around the world.

It has been a busy few weeks for rare disease news, culminating with the FDA’s first approval for a treatment sponsored by a non-profit foundation. In terms of translational research a bumper crop of companies announced research breakthroughs, including Enterprise Therapeutics, Lyvgen Biopharma, Immunova Therapeutics, Valora Therapeutics, Aethon Therapeutics, and Sana Biotechnology. Fundraising hit fever pitch with more than one startup financing every day over the past three weeks. Excitement continues to ramp up around machine-learning assisted de novo antibody design, with two builds — Chai Discovery and LabGenius Therapeutics— making the headlines. In Alzheimer’s news, two startups, TauC3 Biologics and Adel Therapeutics, raising antibodies against neurotoxic tau fragments attracted the eye. Sanofi also got into the end-of-year dealmaking spirit with a rash of December licensing announcements, including deals with LabGenius, InduPro Therapeutics, Indivumed, and Adel Therapeutics. As usual, anything we missed in the biotech startup world, let us know (info@haystacksci.com).

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On December 9, the Italian charity Fondazione Telethon made waves by becoming the first non-profit organization to obtain FDA approval for an advanced therapy: Waskyra (etuvetidigene autotemcel) is an ex vivo lentiviral gene therapy indicated for the rare immune deficiency Wiskott-Aldrich Syndrome. Fondazione Telethon’s accomplishment underscores the impact that philanthropic organizations can have on drug discovery and has rightly been celebrated by patient-advocacy groups working to develop therapies for other conditions of limited commercial interest. How can this wider universe of disease foundations emulate Fondazione Telethon’s achievement and leverage the lessons from Waskyra’s approval?

Drug development for rare and ultra-rare conditions faces multiple challenges: limited understanding of the disease, paltry funding, a lack of business models providing a return on investment, regulatory obstacles, manufacturing and distribution barriers, and so on. For all these reasons, venture capitalists and pharma companies have shied away from diseases that, like Wiskott-Aldrich Syndrome, affect small populations of patients. This is the unspoken dirty secret of modern medicine. Current commercial drug development is unfit for >90% of all known diseases.

With the biopharma industry steering clear of these conditions, patient advocacy groups and other charities are trying to fill the void. According to a recent study commissioned by the US Department of Health and Human Services (HHS), 585 advocacy groups fund “medical product development” activities in the United States. Why has it taken an Italian non-profit organization to be the first to cross the US FDA approval finish line?

The organization responsible for development of Waskyra is the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), a 30-year-old partnership between Telethon Foundation and Milan’s Ospedale San Raffaele. Over those three decades, SR-TIGET has raised over half a billion euros in philanthropic capital to build internal capabilities equivalent to those available in a clinical-stage biotech company: target discovery, preclinical modelling, regulatory strategy, phase 1/2 clinical trials and registration. In other words, unlike most patient foundations and groups, this organization has accumulated the resources to generate the data necessary to walk the full path to approval, independently of the need to collaborate with a pharmaceutical company.

Out of the 585 patient advocacy groups cited in the HHS report, only 11 operate with their own research staff and lab space. In contrast, 106 advocacy groups fund life-science companies, and 536 fund academic or medical institutions. This implies that, at most, only 1.9% of US patient groups use a model that shares at least some similarities with SR-TIGET’s. This is important to emphasize because having all these in-house capabilities makes an organization less dependent on industry partnerships, which can be difficult to secure in the first place and are subject to change if economic conditions and/or company priorities alter.

Of course, it would be disingenuous to expect all patient foundations to adopt the SR-TIGET model. According to the HHS report, the mean annual revenue of an advocacy group capable of funding clinical trials is ~$32 million, with their median annual revenue at ~$3.5 million. Most of the 585 charities have no hope of achieving these financing levels, particularly those advocating for patients living with ultra-rare conditions. At the same time, these figures represent the reality of commercial development, and they should be part of the calculus used by patient advocacy groups to define the scope of their activities and inform their fundraising strategy.

It is worthwhile noting that Waskyra is not Fondazione Telethon’s first rodeo. SR-TIGET was responsible for much of the work behind two other approved ex vivo lentiviral gene therapies for ultrarare conditions: Strimvelis (for ADA-SCID; European approval in 2016) and Lenmeldy (for metachromatic leukodystrophy; European approval in 2020; FDA in 2024). In both cases, the organization partnered with for-profit companies to take the drugs to market, providing SR-TIGET with crucial training in the drug-approval process before they achieved their recent independent success with Waskyra. At the same time, those early experiences made it painfully clear that the story does not end with regulatory approval, as many without experience of developing medicines assume.

In 2018, Strimvelis, which had been developed by SR-TIGET in collaboration with GlaxoSmithKline, was acquired by Orchard Therapeutics along with the rest of the pharma’s rare disease gene-therapy portfolio. After taking the therapy to approval, however, Orchard pulled the plug and decided to cease marketing of the therapy. Fondazione Telethon then stepped in and had to arrange the transfer of the marketing authorization from the company to the foundation. Although SR-TIGET has been able to make the therapy available in Italy, Strimvelis remains unavailable elsewhere in Europe. This is unsurprising as setting up distribution networks across continents requires deep expertise and investment, and has long been the sole purview of commercial organizations.

In the case of Waskyra, the manufacturing and distribution strategy for the United States is not yet clear, but a week after the FDA decision, Fondazione Telethon signed a memorandum of understanding with the Orphan Therapeutics Accelerator (OTXL) under which Orphan Therapies (an OTXL subsidiary) will become the exclusive commercialization partner for the therapy. OTXL is a separate, US-based, non-profit organization focused on the clinical development of “shelved” ultra-rare disease treatments. That two independent non-profit organizations have come together to deliver a life-changing therapy to patients is of great significance and perhaps underappreciated by the wider community. It will be interesting to see how this partnership evolves, particularly with regards to pricing.

Indeed, pricing has been another thorny issue for Fondazione Telethon. The cost of Strimvelis is reportedly ~€600K. Between July 2023 (when the foundation obtained the marketing authorization) and the end of 2024, SR-TIGET has treated only two ADA-SCID patients (~14 children are born every year with the disease in Europe). Of most concern, the associated costs for these two treatments were €4.7 million. Although Fondazione Telethon is a non-profit entity, multi-million Euro losses of this kind simply are unsustainable. It will therefore be important that the foundation sets a price of Waskyra on the US market where it can at least recoup the costs of its treatment — if not make a return that it can invest back in further R&D efforts.

Which brings us to perhaps the most important takeaway from SR-TIGET’s Waskyra approval. It is striking how this foundation has focused very heavily on the development of gene therapies, and in particular ex vivo lentiviral gene therapies. Luigi Naldini, leader of SR-TIGIT, is a pioneer in the study of lentiviral vectors, and a lot of the research conducted at the institute over the years has focused on the optimization of vectors and on understanding the biology of hematopoietic stem cells with the eventual goal of fixing disease-causing mutations. According to the SR-TIGET website, the organization has treated ~25% of patients who have received hematopoietic stem cell-based gene therapy worldwide.

In contrast, most patient groups have a starting point around a specific disease (or a subset of related diseases) for which drug-discovery projects are launched, often using multiple therapeutic modalities to have as many “shots on goal” as possible. These are two fundamentally different approaches. SR-TIGET has focused on one therapeutic modality and then deployed it across different diseases; most other foundations focus on one disease and then invest in many different therapeutic modalities.

Ultra-rare drug developers and patient groups should take note: an increasing body of data suggests that organizations achieving development success have adopted a similar platform-based approach to bringing therapeutics to patients. And the reason for this is simple: putting together an entire discovery, commercialization and distribution apparatus for more than one therapeutic modality is simply unaffordable for most independently funded non-profits.

There are now several examples to illustrate this point. In the field of antisense oligonucleotides (ASOs), n-Lorem Foundation has achieved success using solely the ASO modality, with >35 kids suffering from 17 different “nano-rare” diseases now treated: CHCHD10/ALS, TARDBP, LMNB1, ATN1, SCN2A encephalopathy, PACS1, ASXL3/Bainbridge Ropers, MAPK8IP3/ALS, hnRNPH2/ASD, H3F3/chondrosarcoma, KIF1A/KAND, UBTF/CONDBA, TUBB4A-related leukodystrophy, EPL1/familial dysautonomia, serum amyloid A amyloidosis, or FLVCR1 and PRPH2 retinopathies. Again, success has been achieved by developing a single modality across an incredibly wide range of nano-rare neurodegenerative, neurodevelopmental, autonomic nervous system, kidney and retinal diseases.

For adenoviral associated virus serotype 9 (AAV-9) gene therapy, social purpose corporation Elpida Therapeutics continues to make progress with its platform for ultra-rare conditions (recently receiving an $8 million grant from the Center for Regenerative Medicines) Again, Elpida is focusing on just one modality and developing it against multiple neurodevelopmental and neurodegenerative conditions: Charcot-Marie-Tooth disease type 4J, Spastic Paraplegia 50 (SPG50), and Neuronal Ceroid Lipofuscinosis 7 (CLN7). Similarly, Nationwide Children’s Hospital, which carried out the original work leading to approval of Novartis’ AAV-9 gene therapy (Zolgensma) for spinal muscular atrophy, has deep resources and expertise, enabling it to serve as a hub for this type of gene therapy. In recent weeks, it announced the start of a clinical AAV-9 program for SLC6A1 neurodevelopmental disorder.

Elsewhere, one might argue that, in base editing, we are also starting to see yet another example of a modality hub emerge. Following the success of base editing around CSP1 for baby KJ (highlighted in Issue #6 of The Needle), the Center for Pediatric CRISPR Cures is building a hub around gene editing R&D expertise — an initiative that the Innovative Genomics Institute’s Fyodor Urnov is also promoting.

What does all this mean? We would suggest that academic medical centers and patient foundations interested in developing ultrarare therapies should consider the platform-based approach as an efficient way to deploy their capital. Evidence is clearly building that focusing on one modality works. For therapies beyond that single modality, organizations might be better served by identifying another resource-rich ‘hub’ organization for development programs in their disease.

Another advantage of a large platform-based hub approach with a host of different disease spokes is that it would result in a diversified portfolio of projects in which each project is a separate shot on goal. This may achieve the scale to deliver a successful drug and, therefore, generate income. In fact, MIT economist Andrew Lo has used financial-engineering techniques to show that a portfolio of ultra-rare disease projects could generate a return on investment exclusively from the sale of FDA’s Priority Review Vouchers (PRVs), which pharma companies seek to acquire for a median >$100 million. Although the reauthorization of the PRV program by the US Congress is uncertain, we think this is a tantalizing insight because it points to a sustainable path for the development of ultra-rare therapies.

2025 has been a landmark year for ultrarare therapies. Besides the FDA approval of Waskyra, the successful use of base editing to treat CPS1 deficiency in Baby KJ in just seven months, the acceptance of >160 patients into n-Lorem programs, and the administration of several gene therapies to ultrarare patients (Urbagen, an AAV-9 gene therapy for CTNNB1 syndrome being yet another recent example) suggest that ultrarare disease treatments are finally gaining momentum. With SR-TIGET, n-Lorem, Nationwide Children’s and Elpida showing the way, perhaps a development model is finally emerging to treat these debilitating childhood diseases that devastate too many families around the world.

Translational papers: Best of the rest

Target biology

Peritumoral colonic epithelial cell-derived GDF15 sustains colorectal cancer via regulation of glycolysis and histone lactylation | Nature Aging

Denali scientists show that loss of PILRA promotes microglial immunometabolism to reduce amyloid pathology in cell and mouse models of Alzheimer’s disease | Science Translational Medicine

Dysregulated alveolar type 2 epithelial cell proteostasis promotes fibrogenic macrophage migration inhibitory factor–CD74 signaling | Science Translational Medicine

Augmentation of DNA exonuclease TREX1 in macrophages as a therapy for cardiac ischemic injury | Science Translational Medicine

The TCR-SUB1-DOCK2 axis promotes autoimmunity by driving pathogenic CD4+ T cell tissue infiltration | Immunity

Galectin-related protein, a key contributor, drives diabetes-associated neuropathic pain | PNAS

Functional recovery induced by KCC2-enabled relay pathways in completely injured spinal cords in adult rats | PNAS

Pla2g7 regulates bone homeostasis via Alox12/12-HETE/Gpr31 signaling axis | Nature Communications

Agonists for cytosolic bacterial receptor ALPK1 induce antitumour immunity | Nature

Diabetes exacerbates destructive inflammation by activating the CD137L-CD137 axis in dendritic and γδ T-cells | JCI

Adipocyte-derived FABP4 promotes metabolism-associated steatotic liver–induced hepatocellular carcinoma by driving ITGB1-mediated β-catenin activation | JCI

Targeting kinesin family member 20A sensitizes stem-like triple-negative breast cancer cells to standard chemotherapy | JCI

Nonionotropic action of an acid-sensing ion channel inhibits leukemogenesis in the acidic bone marrow niche | JCI

DLL4+ neutrophils promote Notch1-mediated endothelial PANoptosis to exacerbate acute lung injury in sepsis | JCI

Targeting TFAP2β condensation suppresses the development of esophageal squamous cell carcinoma | Cell

UTX coordinates TCF1 and STAT3 to control progenitor CD8+ T cell fate in autoimmune diabetes | JCI

Nucleophosmin supports WNT-driven hyperproliferation and tumor initiation | Nature Genetics

Elevated calneuron-1, an accessory subunit of muscarinic receptors, induces frontotemporal dysconnectivity and schizophrenia-like deficits | Neuron

CDK3 induces neuronal death and brain atrophy in Alzheimer’s disease | Nature Aging

AQP5: A functional gastric cancer stem cell marker in mouse and human tumors | Science

The Alzheimer’s disease risk genes MS4A4A and MS4A6A cooperate to negatively regulate TREM2 and microglia states | Neuron

Maladaptive immunity to the microbiota promotes neuronal hyperinnervation and itch via IL-17A | PNAS

HDAC5 deacetylates cytosolic ACTN4 during skin reepithelialization and represents a therapeutic target for chronic wound healing | Science Translational Medicine

Rb1 deficiency induces synthetic lethality with ATR and PKMYT1 coinhibition in breast cancer cell lines and patient-derived xenografts | Science Translational Medicine

Dermatomyositis is characterized by JAK1-mediated monocyte-driven vasculopathy and inflammation | Science Translational Medicine

Mismatch repair deficiency drives malignant progression and alters the tumor immune microenvironment in glioblastoma models | JCI

Target validation

Novo Nordisk scientists and their collaborators report on an analog of prolactin-releasing peptide that reduces body weight primarily through sustained fatty acid oxidation rather than hypophagia | Cell Metabolism

Discovery of a small molecule TLR3 agonist adjuvant | Nature Communications

IL-36γ armored CAR T cells reprogram neutrophils to induce endogenous antitumor immunity | Cancer Cell

A novel long-galanin peptide from non-mammalian vertebrates mitigates the inflammatory response in IBD models via the biased GALR2/β-arrestin2 pathway | Nature Communications

Auranofin attenuates TOPBP1-mediated ATR replication stress response and improves chemotherapeutic response in breast tumor models | JCI

A Canadian team in collaboration with Sanofi unmasks “turncoat antibodies” in a model of autoimmune demyelination | PNAS

An orally bioavailable MrgprX1-positive allosteric modulator alleviates certain neuropathic pain–related behaviors in humanized mice | Science Translational Medicine

GTP release-selective agonists prolong opioid analgesic efficacy | Nature

Allosteric activation of a cell-type-specific GPR120 inhibits amyloid pathology of Alzheimer’s disease | Nature Aging

Enterprise Therapeutics reports Phase 1 study results of novel inhaled small molecule blocker of epithelial sodium channel (ENaC) for treatment of cystic fibrosis | J Cystic Fibrosis

TRBC2-targeting antibody–drug conjugates for the treatment of T cell cancers | Nature Cancer

Pharmacologic reversion of Merkel cell carcinoma via CBP/p300 inhibition | PNAS

FcγR-targeted tuftsin clusters rejuvenate macrophages in preclinical sepsis–associated secondary infection | Science Translational Medicine

Cancer immunotherapy

pTα enhances mRNA translation and potentiates CAR T cells for solid tumor eradication | Cell

A trispecific antibody co-developed by scientists from Lyvgen Biopharma engages T cells with tumor and myeloid cells to augment antitumor immunity | Nature Biomedical Engineering

Scientists from Immunova Therapeutics show that ZAP327 signaling domain–driven chimeric antigen receptor generates robust and long-term antitumor immunity in mouse models | Science Translational Medicine

A fungal-derived cyclic peptide enhances Th9-mediated antitumor immunity by targeting ZAP70 and SREBP1 | JCI

Erythropoietin receptor on cDC1s dictates immune tolerance | Nature

HIF-1–mediated ISG20 expression promotes breast cancer stemness and immune evasion | Journal of Experimental Medicine

Hypoxia-induced EGR1 remodels neutrophils to suppress antitumor immunity | Science Immunology

Valora Therapeutics describe antibody-lectin chimeras for glyco-immune checkpoint blockade | Nature Biotechnology

Carl June and his colleagues report the development of dual-targeted ping-pong CAR T cells that leverage peripheral expansion to improve solid tumor immunotherapy | PNAS

Coordinate tumor-antigen uptake and dendritic cell activation by chimeric antigen receptors | Science Translational Medicine

Platelet-engineered CAR-T cells as adjuvant therapy after cancer surgery | PNAS

CD27 agonism enhances long-lived CD4 T cell vaccine responses critical for antitumor immunity | Science Immunology

Aethon Therapeutics reports bispecific T-cell engager antibodies that bind both CD3 and stabilize drug-modified KRASG12C neoantigens identified by mass spectrometry, enabling selective and potent cross-human leukocyte antigen (HLA) immunotherapy | Nature Communications

Pharmacological inhibition of GADD34 reduces XBP1 splicing, IRE1α activation and alleviates CAR-T cell exhaustion in an ex vivo model, leading to enhanced tumour-killing capacity across multiple cancer models | Nature Communications

Tumor-produced ammonia is metabolized by regulatory T cells to further impede anti-tumor immunity | Cell

Platforms, delivery, editing

Biointron reports scalable droplet microfluidics-enabled AbDrop platform for plasma cell-derived repertoire-level sequencing, analysis of antibodies, and rapid full-length IgG expression in CHO cells | Mabs

Metabolism-programming mRNA-lipid nanoparticles remodel the immune microenvironment to improve immunotherapy against MAFLD | Science Translational Medicine

Sana Biotechnology describe the in vivo gene editing of human hematopoietic stem and progenitor cells using envelope-engineered virus-like particles | Nature Biotechnology

Chimeras co-targeting antigens and FcγRIIb trigger degradation of extracellular soluble proteins and pathological aggregates | Nature Communications

Low reactogenicity and high tumour antigen expression from mRNA-LNPs with membrane-destabilizing zwitterionic lipids | Nature Biomedical Engineering

Engineered base editors with reduced bystander editing through directed evolution | Nature Biotechnology

Morpholino–RNA duplex exhibits robust, sustained, and safe steric-block antisense activity by intracerebroventricular and intrathecal injection | Nature Communications

Startup news

Staying with the rare-disease world, a new public-benefit corporation was announced that aims to use a combination of risk pooling and infrastructure orchestration of clinical, manufacturing and distribution expertise to solve the commercialization headaches plaguing cell and gene therapies:

Aradigm plans April launch of concierge model for gene and cell therapy patients, with 15 of US’ largest employers and 6 major insurance partners already signed up

Talking of cell and gene therapy, The UK’s Biotechnology Industry Association’s report on the sector makes for grim reading, with investment at a 10-year low, mirroring early-stage deal making doldrums for the biotech sector as a whole.

In private-funding news, Apple Tree Partners has maneuvered out of its dispute with its single LP by filing for bankruptcy:

Apple Tree Partners files for bankruptcy

Several startups obtained non-dilutive funding from the latest round of CIRM deals:

Navega Therapeutics, Scribe Therapeutics, AcuraStem, 4D Molecular Therapeutics and Savanna Biotherapeutics preclinical programs receive multimillion dollar grants from the Center for Regenerative Medicine.

Elsewhere, a wintry sprinkling of announcements of multinational pharmas partnering with early-stage biotech accelerators:

Takeda joins Pureos Bioventures and AbbVie, Roche, Novo Nordisk, Johnson & Johnson and CSL as partner to Basel accelerator BaseLaunch

Meiji Seika Pharma joins California’s MBC Biolabs accelerator

Congratulations to Asha Therapeutics, a developer of molecular glues against SARM1 in Autosomal Dominant Optic Atrophy and other CNS targets in neurodegenerative disease, for winning the BioFlorida Biopitch, receiving $30K.

Finally, Massbio Kickstarter program invites a new round of applications and highlights how it galvanizes preclinical therapeutic programs with five case studies: Seranatis Bio, Breakloop Bio, Type6 Therapeutics, Cellestial Health and InnaViro Therapeutics

Preclinical financings

Preclinical deals

Stay in touch

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Wishing everyone happy holidays and a wonderful 2026 to all our Needle readers,

Juan Carlos and Andy

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