Also known as: rare conditions
Whole genome sequencing is improving rare disease diagnosis, with studies from Scotland, Sweden, and the Netherlands reporting diagnostic yields around 23% and long-read sequencing matching standard care with 96.4% concordance.
AI-driven drug discovery attracts major investment and partnerships: Galux closes $29M Series B, LG Chem partners with LabGenius on cancer antibodies, Cheiron raises $8M seed, and Peptris secures $7.7M. Galux also teams with AimedBio on BBB-crossing proteins.
Anthropic announced it will run its own preclinical drug-discovery programs for neglected and rare diseases and launched Claude Science, an AI workbench for researchers. The company has not named specific diseases or detailed how it would bring candidates to market.
Global drugmakers are expanding rare disease research investment in Brazil, attracted by new regulations, genetic diversity, and the public healthcare system's data capabilities. Major companies including AstraZeneca, Biogen, and Roche have committed significant clinical research budgets to the country. Despite this progress, advocates warn that a significant global funding gap persists, with 95% of rare diseases still lacking an FDA-approved treatment.
Research and Markets added two cell and gene therapy publications, including a tools and reagents market report forecasting growth from $12 billion in 2025 to $19.8 billion by 2030. The reports track approvals, financing, deals, and manufacturing developments.
The FDA granted Orphan Drug Designation to Cullinan Therapeutics’ CLN-049 for relapsed/refractory AML. CLN-049 is in Phase 1 studies and had already received Fast Track designation.
Drug repurposing expands the therapeutic applications of existing medications, while repositioning examines drugs that never reached market. In neurodegeneration, the approach is described as a pragmatic shortcut into mid- to late-stage trials.
India said its 2021 rare disease policy expanded Centres of Excellence from 8 to 15 and raised financial assistance to Rs 50 lakh. But rare disease treatment can cost up to Rs 1 crore or more annually.
India is expanding rare disease support under the 2021 policy, with aid up to Rs 50 lakh and 15 Centres of Excellence. Officials also called for local innovation as treatment costs can reach ₹16 crore.
The FDA said one pivotal trial plus confirmatory evidence will become the default standard for approval of most new drugs. The shift could extend beyond rare diseases to common conditions affecting millions.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07714161 |
The Mayo Clinic Rare and Undiagnosed Disease Hackathon |
NOT_YET_RECRUITING | |
| NCT07650799 |
AI-assisted Rare Disease Diagnosis |
NOT_YET_RECRUITING | NA |
| NCT07625436 |
Artificial Intelligence for Rare Disease Diagnosis |
NOT_YET_RECRUITING | NA |
| NCT07558213 |
A Multi-Dimensional Model of cAre and transItion for Patients With cOmplex RAre Diseases |
ACTIVE_NOT_RECRUITING | |
| NCT07527624 |
Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability |
RECRUITING | |
| NCT07497581 |
A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases |
NOT_YET_RECRUITING | |
| NCT07400913 |
Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases. |
NOT_YET_RECRUITING | |
| NCT07247292 |
Epidemiological Study of Treatment Approaches on AQP4-IgG Positive NMOSD in Russia |
TERMINATED | |
| NCT07247279 |
Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia |
RECRUITING | |
| NCT07205861 |
Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA Center |
RECRUITING |
