A New European Consortium Dedicated to Finding and Treating Rare Diseases

A molecular biologist, Dr. Daria Julkowska, coordinates an international consortium in Paris that is largely funded through the 28-member European Union (EU).

According to a report published in the Charcot-Marie-Tooth News, ninety-five percent of rare diseases have no available treatment.

The European Joint Programme on Rare Diseases (EJP RD), formed in 2019, consists of about 130 institutions from thirty-five countries. Twenty-seven are member states and seven are associates. Their combined efforts create a sustainable ecosystem involving research, medical innovation, and care.

The Plan

One of the two main goals of the newly established consortium is to expedite the diagnosis and development of treatments for rare diseases. The plan is to develop one thousand new therapies for rare diseases within eight years.

Benefits of the Consortium

Dr. Julkowska and her associates are determined to see that a patient with a rare disease is accurately diagnosed in one year or if not, the patient will be entered into a research pipeline.

The doctor explained that the benefit of EU members working through a consortium is to blend their patient registries, economics data, and biobanks to establish more efficient research programs.

Dr. Julkowska further stated that through its partnership, the EU members can pool their resources and funding in order to save lives.

The French National Institute of Health (NIH)

The program is guided by Inserm which is the French NIH. It consists of eleven universities, hospitals, and patient advocacy groups, plus thirty funding organizations.

Patient advocacy groups function under the Paris-based umbrella called Eurordis. Eurordis consists of 869 groups of rare disease patients in seventy-one countries and twenty-four European Reference Networks. Eurordis as a whole represents over 4000 rare diseases.

The new consortium, EJP RD, differs from Eurordis in that it will not lobby governments for reimbursement approval in connection with high-priced new therapies. Dr. Julkowska made a point of explaining that EJP RD focuses on research and that getting involved with reimbursement for drugs is above their level.

One drug that comes to mind during these discussions is the newly approved extremely expensive treatment for spinal muscular atrophy called Spinraza. The drug carries a price tag of $750,000 USD for the first treatment and $375,000 USD for each subsequent year.

A Better Option

Patients with undiagnosed or untreated rare diseases often suffer unnecessarily and die prematurely. The consortium will, however, finance research that can support patient advocacy groups with their appeals to policymakers.

The EJP RD feels the need and has the desire to greatly improve effective diagnoses and treatments.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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