First study in patients to assess safety, tolerability and inittial efficacy of the new gene therapy product to treat MPSIIIA.

Phase 1

• Conditions: Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is an inherited lysosomal storage disease caused by a specific lysosomal enzyme deficiency that leads to intracellular accumulation of the GAG heparan sulphate (HS). It is caused by a deficiency of one of the four enzymes involved in the lysosomal degradation of HS. In the case of subtype A is the heparan N-sulfatase (SGSH).; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2015-000359-26-ES
• Lead Sponsor: aboratorios del Dr. Esteve, S.A.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2016-02-03
• Last Update Posted: 13 June 2016

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

1.- Male and female patients aged 2 years or older.
2.- Patients with confirmed MPSIIIA (by genotype), with underlying missense mutation at least in one of the alleles for the disease and documented deficiency in sulfamidase enzyme activity of less than or equal to 10%.
3.- Onset of clinical manifestations related to MPSIIIA during the first 6 years of life.
4.- Patients with an adaptive behaviour score between 40 and 90 as evaluated by the Vineland Adaptive Behaviour Scale (Vineland-II).
5.- Patients not dependent on a wheelchair.
6.- Patients without severe sensory deficit (blindness, deafness that requires headset).
7.- Patients with stable symptomatic treatment (depending on weight) within the last 3 months, with no anticipated changes in medication regimen.
8.- Patients with no contraindication for surgical procedure and/or anaesthesia. Patients taking non-steroidal anti-inflammatory drugs (NSAIDs) should discontinue their use.
9.- Patients medically stable to accommodate the protocol requirements, including travelling and assessments.
10.- Signed informed consent.
Are the trial subjects under 18? yes
Number of subjects for this age range: 6
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

Exclusion Criteria

1.- Patient deterioration that may compromise the interpretation of the study results.
2.- Patients with neutralising antibodies (NAb) against AAV9 in cerebrospinal fluid.
3.- Epilepsy resistant to treatment.
4.- Patients with significant co-morbid conditions.
5.- Any contraindication for anaesthesia and product administration procedure, including major risk factors for haemorrhage.
6.- Any vaccination 30 days before investigational product administration.
7.- Patients who have received any medication with the objective of modifying the natural course of the disease, i.e. gene transfer agents or enzyme replacement therapy.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified