Informal reports continue to give good vibes on the drug that Isis pharmaceuticals is developing for myotonic dystrophy (DM). The drug is an antisense approach one that will break up the clogs that are causing the DM disease. Very little information is being released by the company, however.
Successful use of BiPAP in infants with congenital myotonic dystrophy.
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children’s Hospital and Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong.
Reported herein are two cases of severe phenotype of congenital myotonic dystrophy (CDM) with presentation of respiratory insufficiency at birth. The infants were successfully managed with bi-level positive airway pressure (BiPAP) via nasal mask. The use of BiPAP in infants with CDM has not been reported before. The rationale for using BiPAP is discussed. BiPAP may be more effective than continuous positive airway pressure in managing respiratory insufficiency, especially in infants with the more severe phenotype of CDM.
The fast fail initiative is considering many potential autism drugs including Isis Pharmaceutical’s pending drug to treat myotonic dystrophy. This “FAST FAIL” initiative funded by NIH looks at promising drugs to treat Autism and several other conditions. It enables the drug to go to human trials earlier and see if the drug will pan out. The Isis drug by far is the most probable drug to treat and reverse the course of the Autism disease.
NIH officials announced yesterday that a new contract has been let with UCLA to form a network of researchers at various academic institutions to identify promising new and older drug compounds to treat Autism Spectrum Disorder (ASD) and to see if they merit additional investments.
The program is part of a new initiative called “Fast Fail” intends to vastly speed up the drug development process and reduce the costs of this drug development. Instead of taking years of work to see if a drug works this Fast Fail process could see results within weeks. As ASD is a huge issue for the USa and other countries this fast testing with myotonic dystrophy drugs could lead to treatments in a much faster time frame.
Dr. James McCraken who is leading the effort at UCLA states “The Whole idea is just getting much better in these early phases at identifying drugs that are going to be efficacious and safe and thereby speeding the development of effective new therapies and reducing the overall cost”
This is a copy of the article from J of Pediatrics MArch 16, 2013
The myotonic dystrophies have been called the most “diverse diseases known in medicine,”1 and in many respects, the broad spectrum of manifestations observed in myotonic dystrophy type 1 (DM1) are most evident when an undiagnosed and mildly affected mother gives birth to a severely affected child. DM1 results from an unstable trinucleotide repeat expansion (CTG) in the dystrophia myotonica-protein kinase gene (DMPK), located on chromosome 19q13.3.2, 3, 4
Congenital myotonic dystrophy (CDM) often presents as the index case in a family affected by DM1, and the diagnosis is made within the first few hours and days after birth. Neonatal symptoms can be life- threatening and include respiratory failure, feeding difficulties, hypotonia, and muscle weakness.5, 6, 7 The childhood years may bring marked dysarthria, intellectual impairment, and features of autistic spectrum disorders.8, 9, 10 Mothers of patients with CDM often have a diagnosis of DM1 established when their child is diagnosed. These mothers often have mild facial or distal muscle weakness, mild myotonia, and other multisystem manifestations, such as cataracts. Both diagnoses (CDM and adult DM1) can usher in a whirlwind of short- and long-term medical, psychosocial, and economic complications and decisions. Unfortunately, to date, limited empirical information is available to inform care providers, patients, and their family members about the prevalence and natural history of CDM.