Clinical trial to evaluate the effectiveness and safety of acetazolamide in the treatment of cerebellar syndrome in patients with phosphomannomutase deficiency.

Phase 1

• Conditions: Cerebellar syndrome; MedDRA version: 19.1Level: PTClassification code 10008072Term: Cerebellar syndromeSystem Organ Class: 10029205 - Nervous system disorders; Therapeutic area: Diseases [C] - Nervous System Diseases [C10]

• Registration Number: EUCTR2017-000810-44-ES
• Lead Sponsor: Fundació Sant Joan de Déu

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2017-04-07
• Last Update Posted: 20 August 2018

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

Patients with a molecular study confirming PMM2-CDG deficiency
Age greater than 5 years (60 months) and younger than 21 years at baseline
Normal renal function: serum creatinine: <45µmol / L (<6 years); <60µmol / L (7-10 years); <110µmol / L (> 11 years).
Hepatic function with transaminases less than 5 times the upper reference limit * for the laboratory, thus remaining in the last analysis (1 year): ALT in serum: 2-30 IU / L (5-12 years); 2-38 IU / L (> 12 years).
Informed consent signed by parents or legal guardians.
Assent by patients over 12 and under 18 years
Informed consent signed by patients over 18 years of age.
Absence of treatments in the previous 30 days with drugs that can modify or artifact the study and that its effectiveness in cerebellar syndrome is not validly validated.
No known hypersensitivity to the active substance or to any of the excipients.
Are the trial subjects under 18? yes
Number of subjects for this age range: 25
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 5
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Over 18 years at the beginning of the study.
Co-morbid conditions: Kidney disease that contraindicates the use of acetazolamide, cardiac disease not compensated with the treatment.
Other chronic or active acute diseases that under the criterion of the researcher were an exclusion criterion.
Concomitant medication that has not been scientifically proven to improve neurological symptoms associated with cerebellar dysfunction
Age less than 5 years (60 months) or greater than 21 years at the start of the study
Altered renal function: serum creatinine:> 57µmol / L (<6 years); > 60µmol / L (7-10 years); > 80µmol / L (> 11 years).
Hepatic function with transaminases greater than 5 times the upper limit of reference: serum ALT: 63-83 IU / L (5-9 years); 63-82 IU / L (9-12 years): 2-36 IU / L (> 12 years).
Absence of informed consent signed by parents or legal guardians. Absence of informed consent signed by the patient himself / herself in people over 18 years of age.
Treatments in the previous 30 days with drugs that can modify or artifact the study and that its effectiveness in cerebellar syndrome is not validly validated.
Known hypersensitivity to the active substance or to any of the excipients.

Study & Design

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