New Hope for Families of Children with a Rare Life-Threatening Disorder

Pantothenate kinase-associated neurodegeneration or PKAN, is a rare-life threatening disorder of the nervous system that affects 5,000 to 10,000 children worldwide, beginning at about 3.5 years of age. The illness, which has a 75% mortality rate by age 10, has three primary symptoms: dystonia, an uncontrollable movement of the limbs, seizures of varying severity, and hot spots on the legs.

Retrophin RTRX, a biotech company which specializes in the development of orphan drugs for life-threatening diseases, began a phase I "compassionate use" trial of its lead compound RE-024 at Doernbecher Children's Hospital in Portland, Oregon approximately two weeks ago. RE-024 is a replacement therapy for phosphopantothenate, which due to a genetic mutation, is not expressed in children with PKAN.

Retrophin is lead by 31 year-old founder and CEO Martin Shkreli, a hedge fund manager, MSMB Capital Management, and a well-known and controversial figure in the biotech world. Prior to starting MSMB, Shkreli worked for Jim Cramer's hedge fund, Cramer Berkowitz & Company. He has been accused by some of manipulating prices on biotech stocks, while having little knowledge of the industry. One such organization, less than enamored with Shkreli is the Citizens for Responsibility and Ethics in Washington (CREW). In July 2012, CREW asked U.S. Attorney for the Southern District of New York, Preet Bharara, to investigate Shkreli's short-selling activities. With all the accusations, the SEC has never opened any formal investigation against Shkreli.

Shkreli will be presenting at the 16th Annual BIO CEO & Investor Conference at the Waldorf Astoria in New York on Tuesday February 11, and it is expected that he will discuss the RE-024 trial. According to sources, the trial, in its very early stages, has shown potential and has given a glimmer of hope to the families of its young victims. Families of seven children taking part in the study were interviewed and showed various levels of improvement from the treatment.

A four-year old girl with PKAN, who would wake up approximately every 15 minutes at night due to dystonia and anxiety and had hot spots on her legs, had been treated with Botox. The child had been experiencing several seizures per night. Following the start of RE-024 trial, the girl's dystonia improved enough that she was able to sleep through the night. She was able to relax her legs and there was also a significant decrease in anxiety.

An eight-year old boy with PKAN, who had reported feeling like "ants were crawling all over him" before the treatment, said his legs "don't feel like dancing", since the treatment began. Asked if he thought the medicine was making him better, he said "yes".

An eight-year old female child, who is blind, has been unable to walk and has been experiencing significant seizures. Following just five days of treatment, she is now able to sleep through the night. The girl's mother said she sees improvement of the rigidity in her daughter's legs.

Of course, the trial has been going on for only a matter of days and the RE-024 is not without possible side effects. The eight-year old male child said experienced nervousness and also was treated for dehydration. A four-year old male child who experienced dystonia, ataxia (lack of voluntary coordination of muscle movements), dysphagia (difficulty in swallowing) and slurred speech, did show improvement. The boy's tremors have decreased from every few minutes to every 15 minutes. But, the child did experience rouging of the cheeks (rosy cheeks), a possible side effect which was described as "hot and uncomfortable." The father of the previously mentioned 4-year old girl, indicated he was approaching the trial with caution and wanted to see lasting improvement.

For companies engaged in orphan drug development, the payoffs can be lucrative. Orphan drugs have been a favorite of CNBC's Jim Cramer on his show Mad Money. Shares of NPS Pharmaceuticals NPSP, whose lead product is Gattex for the treatment of adult patients with short bowel syndrome, have soared from its closing price of $9.88 when its CEO Dr. Francois Nader, appeared on March 19, 2013, to Friday's closing price of $35.13.

Viropharma, whose CEO appeared on Mad Money on March 8, 2013, when it closed at $25.55, was acquired by Shire for $50.00 per share in November. Alexion Pharmaceuticals, who was granted orphan status by the FDA for Soliris (eculizumab) for preventing delayed graft function in renal transplant patients, has seen its shares rise 76% in the past year.

RE-024 is not a cure for PKAN and a lot more studies must take place before anyone can say if it has any lasting impact on this deadly and heart-breaking illness. It is, at least for now, a ray of hope where there was none before.