Combined D,L-2-hydroxyglutaric Aciduria
Conditions
Keywords
Combined D,L-2-hydroxyglutaric aciduria
Brief summary
This is an individual patient research protocol to treat a patient diagnosed with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA) with ACER-001.
Detailed description
Patient will continue to be seen during routine outpatient clinic visits every 6 months. At those visits the following will be collected: routine metabolic laboratory tests (including a complete metabolic profile, complete blood count, blood phenylacetylglutamine level, and urine organic acids), physical examinations, and an update of clinical history, especially regarding seizures and respiratory status. Once consent is signed, the patient will continue to take ACER-001 as prescribed. The ACER-001 will be provided to the patient at no cost.
Interventions
DRUGSodium phenylbutyrate
open-label design with doses of sodium phenylbutyrate
Sponsors
Jerry Vockley, MD, PhD
Zevra Therapeutics
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Healthy volunteers
No
Inclusion criteria
* Single patient with Combined D,L-2-hydroxyglutaric aciduria * Parental permission must be given at the start of the protocol. * Parents willing to adhere to the protocol
Exclusion criteria
* Refusal or withdrawal of consent. * Drug Intolerance.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of treatment related adverse events | 2 years |
Secondary
| Measure | Time frame |
|---|---|
| Change in the amount of urine D,L 2-Hydroxyglutaric acid in urine | 2 years |
| Change in phenylacetylglutamine in urine | 2 years |
| Change in the number of seizures reported by parents | 2 years |
| Change in ventilator support | 2 years |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORGerard Vockley, MD, PhD
UPMC Children's Hospital of Pittsburgh
Outcome results
None listed