IRSF announces funding of first clinical trial with disease-modifying therapy for Rett syndrome

September 21, 2009

(Cincinnati, OH) - Today, the International Rett Syndrome Foundation announced that it will provide $200,000 in 2009 to support a newly proposed clinical trial with a growth-factor based treatment for Rett Syndrome. The study will be carried out by a team of clinical trials specialists at the Boston Children's Hospital, led by Dr. Omar Khwaja MD, PhD and will be the first potentially disease modifying therapy ever to be tested in Rett syndrome patients. Investigators will test a drug called Increlex. This is an engineered form of the human protein Insulin-like Growth Factor-1, an FDA approved drug for children with short stature due to severe Primary IGF-1 deficiency. Preliminary evidence in animal models of Rett syndrome has recently suggested that targeting the IGF-1 signaling axis may provide a potential avenue for therapy.

"We are pleased to announce the funding of this groundbreaking new clinical study which presents a novel therapeutic strategy for the treatment of Rett syndrome" said Dr. Antony Horton Chief Scientific Officer at the International Rett Syndrome Foundation. "This study will be carried out by a collaborative network of leading clinicians and neuroscientists in some of the World's most prestigious research institutes at the cutting edge of biomedical research. Through our funding of this study we demonstrate our commitment to moving forward the most advanced treatments to prevent, treat and ultimately reverse Rett syndrome".

Dr. Omar Khwaja, principal investigator on the study commented further "Since the 2007 studies which demonstrated potential reversal of Rett syndrome in animal models, there has been a paradigm shift in our thinking about ways to treat this devastating condition. Our pilot study will utilize an existing FDA approved medication, seeking to boost growth of synapses in the brain of patients with Rett syndrome".

Increlex will be provided gratis by Tercica Inc., A Subsidiary of the IPSEN Group, who have reviewed and approved the trial through their internal scientific review board.

Dr. Khwaja and his team have also secured additional funding for this clinical trial through a grant provided by Harvard University's Catalyst Pilot Awards for Clinical Translational Research
-end-
IRSF provides careful due diligence on all clinical studies involving patients with Rett syndrome since safety is of paramount importance. We accomplish this through a rigorous peer-review process, drawing on the external advice and expertise of leading clinical trials specialists in the fields of Rett syndrome, Autism, Pediatric Neurology and other relevant disciplines as appropriate.

About Rett Syndrome

Rett syndrome (RTT), a brain disorder affecting development in childhood, has been identified almost exclusively in females. RTT results in severe movement and communication problems following apparently normal development for the first six months of life. The characteristic features include loss of speech and purposeful hand use, occurrence of repetitive hand movements, abnormal walking, abnormal breathing, and slowing in the rate of head growth. Current treatment for girls with RTT includes physical and occupational therapy, speech therapy, and medication for seizures. No cure for Rett syndrome is known. In 2008, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. Rett syndrome is recognized as the "Rosetta Stone" of other neurological disorders, with genetic links to other disorders like autism and schizophrenia.

About the International Rett Syndrome Foundation

IRSF is the world's leading private funder of basic and clinical Rett syndrome research, funding over $18M in research grants and quality research programs to date. Annually, IRSF hosts the world's largest gathering of global Rett researchers and clinicians to establish research direction and priorities while exchanging ideas and the most recent information. IRSF is the most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and emotional family support, and stimulating research aimed at accelerating treatments and a cure for Rett syndrome and related disorders. To learn more about IRSF and Rett syndrome, visit www.rettsyndrome.org or call IRSF at 1-800-818-RETT.

About Boston Children's Hospital

Children's Hospital Boston is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 500 scientists, including eight members of the National Academy of Sciences, 11 members of the Institute of Medicine and 12 members of the Howard Hughes Medical Institute comprise Children's research community. Founded as a 20-bed hospital for children, Children's Hospital Boston today is a 396-bed comprehensive center for pediatric and adolescent health care grounded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families. Children's also is the primary pediatric teaching affiliate of Harvard Medical School. For more information about the hospital and its research visit: www.childrenshospital.org/newsroom.

International Rett Syndrome Foundation

Related Rett Syndrome Articles from Brightsurf:

Proteins -- and labs -- coming together to prevent Rett syndrome
Two labs investigated whether the disruption of one protein's condensate-forming ability contributes to Rett syndrome.

Genetic editing milestone in mouse model of Rett Syndrome
A genomic error that causes Rett Syndrome, a serious lifelong neurological disorder, can be corrected in the brains of mice by rewriting the genetic instructions carried by the RNA.

Yale researchers find potential treatment for Rett Syndrome
An experimental cancer drug can extend the life of mice with Rett Syndrome, a devastating genetic disorder that afflicts about one of every 10,000 to 15,000 girls within 6 to 18 months after birth, Yale researchers report June 10 in the journal Molecular Cell.

Research team investigates abnormal neuron activity in Rett syndrome
Research by Billy Lau, a postdoctoral researcher working with Assistant Professor Keerthi Krishnan at the University of Tennessee, Knoxville, examines the time during which an adult female mouse first learns to recognize and respond to the distress cries of young mouse pups as an opportunity for the brain to rewire and learn again.

A dietary supplement improves skills of an atypical Rett syndrome patient
Administration of the amino acid L-serine, a dietary supplement, contributes to the improvement of the communicative and motor skills of a patient with a mutation that alters glutamate receptors.

A new drug shows preclinical efficacy in Rett syndrome
A new article published in the Cell Reports describes how a new drug is able to reduce the symptoms and activate the dormant neurons characteristic of Rett Syndrome in preclinical models.

X chromosome reactivation could treat Rett syndrome, other X-linked disorders
A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females.

Discovery fuels hope for Rett syndrome treatment
Vanderbilt University researchers have relieved symptoms of Rett syndrome in a mouse model with a small molecule that works like the dimmer switch in an electrical circuit.

Drug improves brain performance in Rett syndrome mice
A brain penetrant drug -- a small-molecule mimetic of BDNF, or brain derived neurotrophic factor -- is able to improve brain performance in Rett syndrome mice -- specifically synaptic plasticity in the hippocampus and object location memory.

Small-molecule therapeutic boosts spatial memory and motor function in Rett syndrome mice
Rett syndrome is a neurological disorder affecting learning and development, caused by a mutation in the MECP2 gene triggering decreased levels of brain-derived neurotrophic factor (BDNF).

Read More: Rett Syndrome News and Rett Syndrome Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.