Overview

Acetazolamide Efficacy in Ataxia in PMM2-CDG

Status:
Recruiting
Trial end date:
2024-01-01
Target enrollment:
0
Participant gender:
All
Summary
Objective 1 (Primary): To determine the efficacy of acetazolamide in improving ataxia in patients with PMM2-CDG. Objective 2 (Secondary): To evaluate for any adverse events related to longer term acetazolamide administration. Objective 3 (Secondary): To examine the effect of acetazolamide on PMM2 biomarkers including carbohydrate deficient transferrin results, electrolytes (Na, K, Cl, CO2), VBG (pH, pCO2, PO2, CO2, Base excess), liver function tests (AST, ALT, GGT, indirect and direct bilirubin, total protein, albumin, alkaline phosphatase), kidney function tests (BUN, Creatinine, Urinalysis, urine calcium/creatinine ratio, urine protein/creatinine ratio), growth (height, weight, head circumference), vital signs (blood pressure, respiratory rate, heart rate), PROMIS scores, dysarthria using the PATA score, and NPCRS score. Objective 4 (Secondary): To explore characteristics of individuals with PMM2-CDG who do not respond to acetazolamide.
Phase:
Phase 2/Phase 3
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Mayo Clinic
Collaborators:
Children's Hospital of Philadelphia
Seattle Children's Hospital
Treatments:
Acetazolamide
Criteria
Inclusion Criteria:

- Molecularly and/or enzymatically-confirmed PMM2-CDG,

- Age ≥4 years old, and

- Affected with ataxia evidenced by mini International Cooperative Ataxia Rating Scale
(Mini-ICARS) score >0 at baseline.

Exclusion Criteria:

- Hepatic impairment defined as AST/ALT >5x ULN in the last 12 months

- Renal impairment defined as serum creatinine: > 0.5 mg/dL (<6 years); > 0.7 mg/dL
(7-10 years); > 1.24 mg/dL (> 11 years)- Hypersensitivity to acetazolamide

- Hypersensitivity to any of the components of the placebo

- History of treatment with experimental drug within 28 days of Visit 1

- Currently taking Mecamylamine, Sodium Phosphates, Salicylates, Mefloquine, Methenamine
and other Carbonic Anhydrase Inhibitors