Clinical Trials

There are many websites in the rare disease community from which to learn about current or upcoming clinical trials. NTSAD will do its best to post information about trials that are particularly pertinent to the allied diseases, as well as keep listings of portals and links that can be helpful. Should you come across additional resources that you think might be helpful to visitors to the NTSAD site, please let us know.

Trial Resources
FDA This is a good resource for basic questions and answers about clinical trials. www.clinicaltrials.gov (Clinical Trials)This website provides regularly updated information about federally and privately supported clinical research in human volunteers.

GOLD-Global Organisation for Lysosomal Diseases

Clinical Trials ClinicalTrials.gov gives you information about a trial's purpose, who may participate, locations, and phone numbers for more details. The information provided on ClinicalTrials.gov should be used in conjunction with advice from health care professionals.

Current Clinical Trials Recruiting Patients

Bone Marrow or Stem Cell Transplant Trials
Bone morrow or stem cell transplantation is an experimental therapeutic approach to treating genetic metabolic diseases including the lysosomal storage diseases and leukodystrophies. Eligibility for transplant is determined on a case by case basis; generally children diagnosed prenatally or at birth or showing very early symptoms have the most potential. Two centers currently offering transplant:

The University of Minnesota is currently conducting a trial to evaluate whether patients treated by bone marrow, peripheral blood, or umbilical cord blood transplantation have equivalent or better outcome than historical controls with BMT for these patients over the last 5 years.

The Duke Pediatric Blood and Marrow Transplant Program since its creation in 1990 has transplanted over 1200 children suffering from cancer, genetic defects or blood disorders. Today, over half of these children are surviving long-term, cured of their underlying disease by their transplant. With a current waiting list of 30-40 children, and a referral base that is world-wide, the Duke Pediatric BMT Program is the largest children’s transplant program in the world, now transplanting some 100 children annually. It is a program of last resort: These children often have a life expectancy of less than one year
without a transplant.

The Plain Dealer recently featured a detailed piece on the Duke bone marrow transplant program. NTSAD highly recommend reading the article for its well balanced handling of parents’ hopes and the realities of scientific evidence.

Fabry Phase II Clinical Trial Amicus Therapeutics is currently developing Amigal® (migalastat hydrochloride), an experimental, oral medication for the treatment of Fabry disease. Amigal acts as a pharmacological chaperone and helps to selectively stabilize and restore the three-dimensional shape, trafficking, and biological activity of a-galactosidase A (a-GAL), the enzyme that is defective in Fabry disease. The company is recruiting for male patients in the US, UK, Brazil and Australia and female patients the UK and Brazil.

Fabry, Gaucher, MPSI and Pompe Trials Genzyme Therapeutics currently is recruiting patients for several clinical trials related to Pompe disease (glycogen storage disease), Fabry disease, Gaucher and MPSI.

Infantile GM-2: Sandhoff and Tay-Sachs Although Actelion’s substrate inhibitor small molecule Zavesca ® (miglustat) did not showed no change in the progression of Late Onset Tay-Sachs, it is still being investigated in infantile GM-2: Sandhoff and Tay-Sachs at Children’s National Medical Center.

Nervous System Degeneration in Glycosphingolipid Storage Disorders This study will evaluate children with glycosphingolipid (GSL) storage disorders, Tay-Sachs, Sandhoff, GM-1 and Gaucher Type II, to investigate brain changes that cause nervous system degeneration. No experimental treatments are offered in this study; participants will receive standard medical care for their disease. The information from this study may help researchers develop new therapies for these disorders and monitor the effects of treatment.

Actelion’s 2005 Report on their drug Zavesca:
“Realizing the potential of Zavesca® in lipid storage disorders Building on the success of Zavesca® (miglustat) in treating type 1 Gaucher disease, Clinical Development is moving forward on trials in related lipid storage diseases. The Phase IV trial maintenance was initiated in late 2005. This study will test the long-term efficacy and safety of Zavesca® as maintenance therapy after a switch from enzyme replacement therapy (ERT) in adult type 1 Gaucher patients with stable disease. First interim results are expected in 2007.

In 2005, Actelion also continued to evaluate the potential of Zavesca® in lipid-storage disorders other than type 1 Gaucher disease: type 3 Gaucher disease (GD3), Niemann-Pick Type C (NP-C) and Late Onset Tay-Sachs (LOTS). Unlike ERT, which helps to degrade the excess of accumulated glycosphingolipids, Zavesca® blocks the synthesis of glucosylceramide, the first intermediate in the synthesis of a large family of glycosphingolipids. In late 2005, analyses have been completed for three clinical programs, with a total of one-hundred adult and pediatric patients, evaluating the safety and efficacy of high-dose miglustat (Zavesca®) in lysosomal storage disorders with predominant neurological manifestations, namely NP-C, GD3 and LOTS. In NP-C, encouraging results have been seen at 12-months in adult and pediatric patients, with improvement or stabilization of key features of the disease such as saccadic eye movements, swallowing, cognition, and auditory function, underlying the ability of miglustat to work in the brain. After consultation with experts, Actelion has decided that these results warrant discussion with regulatory authorities. The NP-C study is continuing as planned until 24 months, as is the GD3 study, where the 12-month results were inconclusive. With respect to LOTS, the 24-month results in a group of severe, heterogeneous and advanced patients showed no change in the progression of the disease. In all three studies, the safety profile was consistent with earlier observations in patients with type 1 Gaucher disease, where only half the dose is being used.”