Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach

ConditionsMethylmalonic Acidemia Propionic Acidemia

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age6-99

SponsorRECORDATI GROUP

About this trial

This is a prospective mixed-design study focused on the long-term management of propionic aciduria (PA) and methylmalonic aciduria (MMA) with N-carbamylglutamate (NCG) maintenance therapy. Treatment characteristics, clinical outcomes, and healthcare utilization data of patients diagnosed PA or MMA treated \>6 months therapy with NCG are collected at baseline, 12 months, 18 months, 36 months and 54 months. Qualitative interviews with adult patients and caregivers are conducted \>6 months after study enrollment to gain a better understanding of the disease burden and the treatment burden of patients and their families.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Patient has confirmed diagnosis of an organic acidemia (e.g., MMA or PA)

Patient initiated treatment with carglumic acid for long-term management of MMA or PA

Patient has been treated with carglumic acid for a minimum of 6 months

Patient (or caregiver) is able to comply with all prospective study procedures

Disqualifiers

None

Trial population

Patients diagnosed with organic acideamia that have been on treatment with CARBAGLU® for a minimum of six months for the long-term management of their disease. This prospective observational study population will include up to 95 diagnosed MMA or PA patients with current carglumic acid treatment experience from 6 European countries: Sweden, the United Kingdom (UK), the Netherlands, Germany, Norway, Italy, Spain and France. The patients (or caregivers) included in this prospective observational study will also be invited to participate in a one-on-one phone interview.

Trial design

Design model

Case-only

Time perspective

Prospective

Treatments tested in this trial

Carglumic Acid
Drug
Maintenance therapy with carglumic acid

Treatment groups

95 Participants

are divided into 2 treatment groups

Group A: Methylmalonic_acidemia1 intervention

Group B: Propionic_Acidemia1 intervention

Trial outcomes

Primary outcomes

Change in Number and Duration of Decompensation Events

Change in the number of decompensation events before and after treatment with carglumic acid

Time frame

54 months

Secondary outcomes

Frequency and Duration of Healthcare Resource Utilization

Estimation of the health care resource utilization associated with a decompensation event with number of inpatient hospitalization vs. outpatient vs. home. Treatment used to control ammonia levels during decompensation episodes. Number of emergency visits. number of visits to specialist or to general practitioner. Number of hospital stays. Number of bed days in hospital.

Time frame

18 months

Caregiver Burden Exposure Frequency and Duration

description of the patient and caregiver burden associated with MMA and PA

Time frame

18 months

Caregiver Satisfaction Level

Describe the MMA and PA patient and caregiver satisfaction with MMA or PA treatment

Time frame

18 months

Maintenance Dosage of NCG

Document the dosages of NCG used in maintenance treatment