Last updated on April 24, 2014 at 21:24 EDT

uniQure Initiates Phase I in Acute Intermittent Porphyria

December 11, 2012

AMSTERDAM, December 11, 2012 /PRNewswire/ –

uniQure B.V., a leader in the field of human gene therapy, today announced the start
of its Phase I clinical trial in acute intermittent porphyria (AIP) with the treatment of
the first patient. The study is conducted under the aegis of the AIPGENE consortium, a
pan-European collaboration funded in part by the European Commission’s Seventh Framework
Program with the aim to develop a gene therapy for the treatment of AIP, a rare and
devastating disease caused by mutations in the porphobilinogen deaminase gene (PBGD). AIP
can be life-threatening and the long-term effects include irreversible nerve damage, liver
cancer and kidney failure. uniQure was granted orphan drug designation for the treatment
of AIP in 2009 from the European Medicines Agency.

“The start of the AIP Phase I study marks the first of four programs that will enter
clinical trials over the next 12 months,” says Jorn Aldag, CEO of uniQure. “After AIP we
expect clinical trials to be initiated in Parkinson’s disease, hemophilia B, and
Sanfilippo B. After many years of building and developing our capabilities and
competencies, and the approval in November of Glybera for LPLD as the first gene therapy
in the Western world, we are highly motivated to expedite the clinical development of our
other advanced gene therapies.”

About the AIP Phase I study

The Phase I will enroll eight patients with severe AIP at two centers: the Clinical
University of Navarra, Pamplona, Spain, and the 12 de Octubre University Hospital,,
Madrid, Spain. The study’s primary objective is the assessment of safety and determination
of the maximum tolerated dose. Secondary objectives include tolerability of treatment,
pharmacokinetics, changes in the levels of surrogate markers of activity including
porphobilinogen (PBG) and delta-aminolevulinic acid (ALA), and assessment of symptom
control, neuro-psychological changes and quality of life. All patients will be followed
for one year, and the interim results of the Phase I are expected in Q3 2013.

About acute intermittent porphyria

Acute Intermittent porphyria (AIP) is a rare genetic disease which is caused by
mutations in the porphobilinogen deaminase (PBGD) gene; one of the enzymes of the heme
biosynthesis pathway. Mutations in this gene cause insufficient activity of the protein
resulting in partially disruption of heme synthesis. This in turn leads to accumulation of
toxic intermediates (ALA and PBG) giving rise to a wide variety of problems including
acute, severe abdominal pains, psychiatric and neurological disorders, and muscular
weakness. Acute porphyric attacks can be life-threatening and the long-term consequences
include irreversible nerve damage, liver cancer and kidney failure. Currently, the only
curative therapy is liver transplantation and thus, new curative options are urgently
needed. Severe AIP patients are suffering poor quality of life with palliative treatments
for the different symptoms including glucose or heme infusions for metabolic replacement
and inhibition of toxic metabolic production.


AIPGENE is a European Commission Framework Programme 7-funded consortium (Grant
Agreement number 261506) which was put together with the aim to develop the orphan gene
therapy drug AAV5-AAT-PBGD (AMT-021) for the treatment of Acute Intermittent porphyria
(AIP). The consortium’s objective is to contribute to alleviating the negative impact of
this disease on the quality of life of the patients and their families. Overall
coordinator of the project is the Centre for Applied Medical Research (CIMA) at the
University of Navarra, Pamplona, Spain. Apart from uniQure, other members of the
consortium are the Clinical University of Navarra, Pamplona, Spain; Karolinska University
Hospital, Stockholm, Sweden; German Cancer Research Center (NCT-DKFZ), Heidelberg,
Germany; DIGNA Biotech, Pamplona, Spain; Servicio Madrileno de Salud, Madrid, Spain.

About uniQure

uniQure [http://www.uniqure.com ] is a world leader in the development of human gene
based therapies. uniQure’s Glybera, a gene therapy for the treatment of lipoprotein lipase
deficiency has been approved in the European Union, and is the first approved gene therapy
in the Western world. uniQure’s product pipeline of gene therapy products in development
comprise hemophilia B, acute intermittent porphyria, Parkinson’s disease and Sanfilippo B.
Using adeno-associated viral (AAV) derived vectors as the delivery vehicle of choice for
therapeutic genes, the company has been able to design and validate probably the world’s
first stable and scalable AAV manufacturing platform. This proprietary platform can be
applied to a large number of rare (orphan) diseases caused by one faulty gene, and allows
uniQure to pursue its strategy of focusing on this sector of the industry. uniQure’s
largest shareholders are Forbion Capital Partners and Gilde Healthcare, two of the leading
life sciences venture capital firms in the Netherlands. Further information can be found
at http://www.uniqure.com.

SOURCE uniQure B.V.

Source: PR Newswire