Cerebellar syndrome MedDRA version: 19.1 Level: PT Classification code 10008072 Term: Cerebellar syndrome System Organ Class: 10029205 - Nervous system disorders
Conditions
Interventions
Trade Name: EDEMOX
Product Name: acetazolamida
Pharmaceutical Form: Capsule
INN or Proposed INN: acetazolamida
CAS Number: 59-66-5
Current Sponsor code: acetazolamide
Other descriptive name: ACETAZOLA
Sponsors
Fundació Sant Joan de Déu
Eligibility
Sex/Gender
All
Inclusion criteria
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: 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
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 ( 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To determine effectiveness in terms of the movement disorder associated with cerebellar syndrome.;Secondary Objective: To describe the response regarding cognitive-behavioral phenotype associated with cerebellar syndrome. To evaluate the benefit in regard to external oculomotor disorder: strabismus, nystagmus, alteration of the sacral. To evaluate the improvement in functionality and quality of life. To evaluate clinical changes in multisystemic affection using NPCRS scale, global systemic scale for PMM2-CDG. Evaluation of safety in the multisystemic affection described in the PMM2-CDG deficiency: thyroid function, hepatic function, coagulation factors. Evaluation of the modification or correction of an abnormal sialotrasferrin glycosylation profile of patients with PMM2-CDG deficiency. Evaluation of therapeutic compliance.;Primary end point(s): To determine effectiveness in terms of the movement disorder associated with cerebellar syndrome.;Timepoint(s) of evaluation of this end point: 7 month | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): To describe the response regarding cognitive-behavioral phenotype associated with cerebellar syndrome. To evaluate the benefit in regard to external oculomotor disorder: strabismus, nystagmus, alteration of the sacral. To evaluate the improvement in functionality and quality of life. To evaluate clinical changes in multisystemic affection using NPCRS scale, global systemic scale for PMM2-CDG. Evaluation of safety in the multisystemic affection described in the PMM2-CDG deficiency: thyroid function, hepatic function, coagulation factors. Evaluation of the modification or correction of an abnormal sialotrasferrin glycosylation profile of patients with PMM2-CDG deficiency. Evaluation of therapeutic compliance.;Timepoint(s) of evaluation of this end point: 7 months | — |
Countries
Spain
Contacts
Public ContactSilvia Martinez
SAIL SL
Outcome results
None listed