A single center, open-label, non-randomized, uncontrolled, multiple-dose, dose escalation study of the safety, pharmacokinetics and efficacy of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of patients with late infantile metachromatic leukodystrophy (MLD)
- Conditions
- ate infantile metachromatic leukodystrophy (MLD)MedDRA version: 9.1Level: LLTClassification code 10024381Term: Leukodystrophy
- Registration Number
- EUCTR2006-005341-11-DK
- Lead Sponsor
- Shire Pharmaceuticals Ireland Limited
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- 12
1. Subject’s legally authorized guardian(s) must provide signed, informed consent prior to performing any study-related activities (Trial-related activities are any procedures that would not have been performed during normal management of the subject).
2. The patient must have a confirmed diagnosis of MLD as defined by:
-ASA activity < 10 nmol/h/mg in leukocytes
-Presence of elevated sulfatide in urine
3. The patient must have a confirmed nerve conduction velocity < 2 standard deviations (from the appropriate age level)
4. The patient must have a residual level of voluntary function (as judged by the investigator), including presence of residual cognitive function (attention, executive and visual functions) as well as the presence of residual voluntary motor function in one upper or lower limb as a minimum.
5. The patient must have an age at the time of screening = 1 year and < 6 years
6. The patient must have had onset of symptoms before the age of 4 years
7. The subject and his/her guardian(s) must have the ability to comply with the clinical protocol
8. The patients’ medical record must document that the legal guardian(s) has had independent counselling or a consultation regarding stem cell transplantation in order to assure that the guardian(s) is fully informed regarding the risks and benefits of this alternative
Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
1. Presence of a gross motor function measure (GMFM < 10)
2. Presence of severe pseudo-bulbar signs (weakness and disco-ordination of tongue and swallowing muscles leading to severe difficulty with swallowing)
3. Spasticity so severe to inhibit transportation
4. Known multiple sulfatase deficiency
5. Presence of major congenital abnormality
6. Presence of known chromosomal abnormality and syndromes affecting psychomotor development
7. History of stem cell transplantation
8. Presence of known clinically significant cardiovascular, hepatic, pulmonary or renal disease or other medical condition
9. Any other medical condition or serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the trial
10. Use of any investigational product within 30 days prior to study enrolment or currently enrolled in another study which involves clinical investigations.
11. Received ERT with rhASA from any source
12. Planned or anticipated initiation of antispastic treatment after trial initiation
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method