"The MaP Study": Mapping the Patient Journey in MMA and PA | NCT03484767

Status Module

Record Verification Date

Jul 2021

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 20, 2018Actual

Primary Completion Date

May 29, 2021Actual

Completion Date

May 29, 2021Actual

First Submitted Date

Mar 13, 2018

First Submission Date that Met QC Criteria

Mar 29, 2018

First Posted Date

Apr 2, 2018Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jul 29, 2021

Last Update Posted Date

Aug 2, 2021Actual

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

97Actual

Label	Type	Description	Intervention Names
Methylmalonic Acidemia Participants		Individuals with isolated MMA (mut0 and mut-)
Propionic Acidemia Participants		Individuals with isolated PA

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Change in plasma methylmalonic acid levels (MMA only)		Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients)		Baseline through 12 months
Changes in plasma 2-MC levels (PA only)		Baseline through 12 months
Changes in plasma 3-HP levels (PA only)		Baseline through 12 months
Frequency of disease related clinical events in enrolled participants (PA patients)		Baseline through 12 months

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

MMA Only • Patient has a confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) based on the following criteria:

Elevated plasma/serum/DBS or urine methylmalonic acid levels
Presence of normal serum/plasma vitamin B12 and plasma homocysteine levels
Confirmed by molecular genetic testing. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit

PA Only

• Patient has a confirmed diagnosis of isolated PA based on the following criteria:

Elevated plasma/DBS/urine 2-MC and/or 3-HP
Elevated plasma/serum/DBS propionylcarnitine (C3)
Confirmed by genetic testing for mutations of the PCCA or PCCB genes. Genetic testing can be performed after the administration of informed consent if not available, however, molecular genetic results must be confirmed before the second study visit

Both MMA and PA

Patient (and/or legally authorized representative as applicable to local regulations) is willing and able to comply with study-related assessments and activities
Patient or legally authorized representative is willing and able to provide informed consent and/or assent as mandated by local regulation

Exclusion Criteria:

Estimated GFR <30 mL/min/1.73m2 based on age appropriate equations or patients who undergo chronic dialysis
The patient is pregnant or lactating at the time of screening. (Note: Patients who become pregnant during the study may remain in the study) MMA Only
Patients diagnosed with isolated MMA cblA, cblB, or cblD enzymatic subtypes or methylmalonyl-CoA epimerase deficiency or combined MMA with homocystinuria PA Only
Patient has a confirmed diagnosis of multiple carboxylase deficiency

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Individuals of any age with confirmed diagnosis of isolated MMA due to MUT deficiency (mut0 or mut-) or isolated PA

Sampling Method

Non-Probability Sample

Facility	Status	City	State	ZIP	Country	Contacts
Stanford Health Services		Stanford	California	94305	United States
Emory Univeristy

ID	Term
C537358	Methylmalonic acidemia
D056693	Propionic Acidemia
D008661	Metabolism, Inborn Errors

ID	Term
D000592	Amino Acid Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D008659	Metabolic Diseases
D009750	Nutritional and Metabolic Diseases