Spanish family seeks €3 million to treat infant Claudia's rare disease

Claudia D-bifunctional protein deficiency gene therapy funding Spanish university research Sant Joan de Déu

Claudia was born on 4 September 2023. Genetic testing later identified a deficiency of the D‑bifunctional protein (DBP) caused by mutations in the HSD17B4 gene, a rare metabolic disorder that damages peroxisomes and leads to progressive neuro‑degeneration. By April 2024 she had lost the ability to crawl and now requires 24‑hour care.

Her parents, Elena and Ignacio, created the Association for Research and Treatment of Peroxisomal Diseases and the platform “El Reto de Claudia” to raise funds. Elena reduced her work schedule by 90 % from 1 July to care for Claudia. The family is seeking €3 million to develop a gene‑therapy that could correct the underlying mutation. A Spanish university has opened a dedicated research line and Hospital Sant Joan de Déu in Barcelona is participating in the project. The case has attracted interest from a noted geneticist and several U.S. biotech companies specializing in rare‑disease gene therapies.

Entities: Claudia · Elena · Hospital Sant Joan de Déu · Ignacio · Spanish university (unnamed) · University in Spain

Claims

What the coverage asserts, and how well corroborated each claim is across sources.

[● 7 SOURCES] The family is seeking €3 million to fund development of a gene therapy for Claudia's condition. (existing)
[● 7 SOURCES] Claudia has a deficiency of the D‑bifunctional protein caused by mutations in the HSD17B4 gene. (existing)
[● 7 SOURCES] Researchers and biotech companies in the United States have shown interest in developing a therapy for Claudia's disease. (existing)
[● 7 SOURCES] Claudia was born on 4 September 2023. (existing)
[● 7 SOURCES] Elena reduced her work schedule to a 90 % reduction as of 1 July to care for Claudia. (existing)
[● 7 SOURCES] A Spanish university opened a specific research line and Hospital Sant Joan de Déu in Barcelona participates in the project. (existing)
[● 7 SOURCES] Claudia lost the ability to crawl in April and now requires 24‑hour care. (existing)
[● 7 SOURCES] The parents created the Association for Research and Treatment of Peroxisomal Diseases and the platform “El Reto de Claudia”. (existing)