New Gene Therapies Transform Rare Disease Care, but Gaps Remain

Gene therapies are transforming the approach to rare diseases. These advances have changed the prognosis for pathologies that until recently lacked treatment, allowing patients to lead normal lives. Even so, there are still challenges that hinder their treatment.

This has been one of the main messages during the day organized this Thursday by the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (Aelmhu) and the National Association of Health Journalists (ANIS) to address the situation regarding orphan drugs.

Gene Therapies Advances Bring Hope to Rare Disease Patients

Although research is progressing, most rare diseases remain untreated. As Beatriz Perales, president of AELMHU, pointed out, there are currently around 7,000 rare diseases, but only about 6% have specific treatments. Despite this, 22% of authorized clinical trials in Spain are now focused on rare diseases.

In this context, advanced gene therapies have become one of the main avenues for developing treatments for diseases that previously lacked therapeutic options. This is the case with leukocyte adhesion deficiency type 1 (LAD-1), a condition with a two-year survival rate of approximately 30% without treatment.

In this vein, José Antonio Bueren, director of the Biomedical Innovation Unit at the Center for Energy, Environmental and Technological Research (CIEMAT), highlighted the results of a gene therapy clinical trial showing that all nine treated patients remained alive and were leading normal lives after more than three years of follow-up. Furthermore, the therapy also received approval this year from the U.S. Food and Drug Administration (FDA).

“What gene therapies are demonstrating is that many of these therapies are truly curative and are intended to provide a lifelong cure,” Bueren explained. Other conditions such as Fanconi anemia, spinal muscular atrophy, and Pompe disease also benefit from these advances, according to the director of CIEMAT.

Despite these advances in gene therapies, challenges remain, such as diagnosis

In this regard, Álvaro Hidalgo, director of the Health Economics and Healthcare Management Research Group at UCLM, pointed out that one in five patients with rare diseases takes more than ten years to receive a diagnosis.

“Often, patients are bounced around the healthcare system because they can’t be diagnosed,” she pointed out. Faced with this problem, they emphasized the need to improve care coordination and facilitate access to specialized resources capable of identifying these conditions earlier.

In this regard, Isabel Motero, Director General of the Spanish Federation of Rare Diseases (FEDER), has pointed out the territorial differences that affect the nearly 3.4 million people in Spain who are affected by these conditions. These differences are reflected, above all, in screening, early diagnosis, and access to specialized resources.

In this regard, the general director of Feder has called for progress towards greater homogeneity between autonomous communities to prevent the place of residence from conditioning the diagnostic and care opportunities of patients with rare diseases.

Despite these inequalities, access to orphan drugs and gene therapies has shown some improvement in recent years. According to data from the Report on Access to Orphan Drugs in Spain, the average waiting time for these treatments in Spain was 22 months at the beginning of 2026, one month less than in 2025. Furthermore, three new orphan drugs received public funding at the beginning of this year.

They also highlighted the need to adapt assessment and funding models to the arrival of increasingly complex advanced gene therapies. In this context, they emphasized the update of the National Strategy for Rare Diseases as an opportunity to strengthen healthcare coordination, promote innovation, and reduce regional inequalities.

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(Featured image by Sangharsh Lohakare via Unsplash)

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First published in iSanidad. A third-party contributor translated and adapted the article from the original. In case of discrepancy, the original will prevail.

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