A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG

Who is this study for? Patients with ataxia with PMM2-CDG
What treatments are being studied? Acetazolamide
Status: Active, not recruiting
Location: See all (3) locations...
Intervention Type: Drug
Study Type: Interventional
Study Phase: Phase 2/Phase 3

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.

Participation Requirements
Sex: All
Minimum Age: 4
Healthy Volunteers: No

• 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.

United States
Mayo Clinic
Children's Hospital of Philadelphia
Seattle Children's Hospital
Time Frame
Start Date: March 17, 2021
Estimated Completion Date: January 1, 2024
Target number of participants: 26
Experimental: Acetazolamide
Acetazolamide administered via capsule or liquid suspension. Capsule would be 250 mg oral capsules encapsulated by gelatin capsule and filled with lactose to match placebo. Liquid suspension would be 25 mg/mL oral suspension but adding 125 mg Acetazolamide tablets to suspending agent Ora-blend
Placebo Comparator: Placebo
Placebo administered via capsule or liquid suspension. Capsule would be a gelatin capsule filled with lactose powder to match Acetazolamide. Liquid suspension would be Ora-blend.
Andrew Edmondson, Christina Lam, Irene Chang, Eva Morava-Kozicz
Collaborators: Seattle Children's Hospital, Children's Hospital of Philadelphia
Leads: Mayo Clinic

This content was sourced from clinicaltrials.gov

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