Enzymotherapy for MLD leukodystrophy: the opening of a French site

Written on Monday 12 May 2014

Dear Friends,

You will find below the information pertaining to a new therapeutic trial against metachromatic leukodystrophy. Initially, this only concerns a few children, in precise conditions. The aim is to verify the inoffensiveness of the treatment and the correct dose of the drug. It is only the first step of a therapeutic trial, but it is essential. I am well aware that the speed of research is unfortunately not in phase with that of the disease progression, but you can be sure that we are doing our best to accelerate research. We realize the difficult situations related to MLD evolutions and we are fully aware that for many of these children or adults this trial will not supply any benefit. However, I wished to inform you of how our attention is particularly drawn to this form of leukodystrophy.

I remain at your service for all additional information.

With all my sympathy,

Guy Alba, founding president of the ELA association



In December 2011, the IDEAMLD substitutive enzymotherapy trial, of which the Shire HGT laboratory is the promoter, got the green light from the Danish authorities to begin to treat children suffering from metachromatic leukodystrophy. Since that date, one child has been treated.

Since the 1st of October 2012, the Bicêtre hospital has been allowed to carry out this trial in France under the direction of Dr. Caroline Sevin and Pr. Patrick Aubourg (Service of Neuropediatrics). The recruitment of patients to the trial is now underway.

This study consists of evaluating the tolerance and efficacy of injection (every 2 weeks, for 38 weeks) of the normal human ARSA enzyme (or HGT-1110) into the cerebrospinal fluid that surrounds the spinal cord. The aim is to determine the inoffensiveness and the efficiency of increasing enzyme doses. All patients will receive the treatment. The injection of the enzyme into the cerebrospinal fluid that surrounds the spinal cord is carried out using a catheter inserted into the subarachnoid space as during a lumbar puncture, the catheter remaining implanted throughout the trial. This type of catheter is known as “intrathecal” and is commonly used for the injection of other drugs in other diseases.

To participate in this study, the children (boys or girls) must be aged less than 8 years old and at the time of inclusion into the trial must still be able to stand alone and walk 10 steps, if necessary with one hand held (but not both) and the first symptoms of the disease (difficulties in walking) must have appeared at the age of 30 months or earlier. Patients having received a bone marrow transplant cannot be included in the study.

We do not expect this treatment to be efficacious in children with a more advanced form of the disease; hence the reasons for the selection criteria for the participation in this clinical research study.

To contact the person responsible for the trial:

Dr. Caroline Sevin

Hôpital Bicêtre Paris Sud

Services de Neurologie et d’Endocrinologie Pédiatriques

78, rue du Général Leclerc

94 275 Le Kremlin Bicêtre, France

Medical secretariat: +33 1 45 21 30 17

E-mail: caroline.sevin@inserm.fr

For more detailed information about the trial (details of inclusion and exclusion criteria, experimental treatment, etc.), click here

Download the letter of the Shire HGT laboratory