Carnitine Palmitoyl Transferase Type 1A (CPT1A) DeficiencyNCT00653666
Metabolic Consequences of CPT-1 Deficiency
A study testing Medically supervised fasting in people with Carnitine Palmitoyl Transferase Type 1A (CPT1A) Deficiency, run by Oregon Health and Science University at 1 site in United States.
Trial summary
The purpose of this study is to learn more about how long children with CPT-1 deficiency can wait between meals without developing low blood sugar or symptoms of low blood sugar. The other purpose is to learn more about how much fat is stored in the liver of a child with CPT-1 deficiency. Read more about this study
- Who is it for?
- Ages 3 to 5 years
- Conditions the study is for
- Carnitine Palmitoyl Transferase Type 1A (CPT1A) Deficiency
- What is being tested?
- Medically supervised fasting
- Type of treatment
- Pill or oral medicine, Injection or infusion
- How many people
- 12 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2007to Feb 2009
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 5 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- CPT-1 deficiency
- homozygous for the c.1436C-T sequence variant
- greater than 6 kg
- otherwise healthy
- siblings must be free of CPT-1 deficiency but heterozygous for c.1436C-T sequence variant and otherwise healthy
Who cannot join
- liver dysfunction
- diabetes
- renal disease
- metal plate in body
Trial locations and contacts
1 site in 1 country.
United States1 site
Oregon Health & Science University
Portland, Oregon, 97239
About this study
Official title: Metabolic Consequences of CPT1A Deficiency in Alaska Native Children
The purpose of this study is to learn more about how long children with CPT-1 deficiency can wait between meals without developing low blood sugar or symptoms of low blood sugar. The other purpose is to learn more about how much fat is stored in the liver of a child with CPT-1 deficiency.
Read the detailed description
With the advent of enhanced screening (via tandem mass spectroscopy, MS/MS), the Northwest Regional Newborn Screening Program (NWRNSP) has identified a high incidence of carnitine palmitoyl transferase type 1A (CPT1A) deficiency in Alaska Native infants. Since October of 2003 approximately 80 Alaska Native infants have been identified with this condition; previously only 30 published cases were known worldwide. All of the infants are homozygous for a c.1436C-T sequence variant in the CPT1A gene, which results in the substitution of a leucine for proline at amino acid position 479 (P479L), and an approximately 80% reduction of CPT1A activity (non-classic CPT1A deficiency) (7). The clinical implications of this very restricted level of enzyme activity are not known. However, patients with more severe reductions of CPT1A activity (as the result of other mutations) are known to be at high risk for hypoketotic hypoglycemia, liver dysfunction, and sudden unexplained death (1). Hepatomegaly with micro- and macro-vesicular steatosis is also common (16). Currently the treatment of Alaska Native infants and children with CPT1A deficiency is based on data from patients with more severe forms of CPT1A deficiency and other fatty acid oxidation (FAO) disorders. Our ultimate goal is to establish evidence-based guidelines for treatment of the form of CPT1A deficiency prevalent in the Alaska Native population. This pilot study addresses two specific questions and will provide the first glimpse of the physiologic effects of homozygosity for the c.1436C-T sequence variant in the CPT1A gene. These data will aid in the development of strategies for clinical management that can be evaluated in future prospective studies, and provide preliminary data required for applications for NIH funding for more in-depth characterization of the clinical consequences of this condition.
- Being tested
- Medically supervised fasting
- Keywords
- CPT1A, steatosis, deficiency, metabolic, response, fasting
- Medical subject headings
- Fatty Liver, Fasting
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Medically supervised fastingOther
Metabolic fasting studies will be conducted over an 18-hour period or until blood glucose is < 40 mg/dl. If the YSI reading is 40 mg/dl or less, at any time during the study, then a blood sample will be collected, and the fast terminated by giving D25W IV and then feeding orally.
What is being measured
The primary outcome is the main question the study is designed to answer.
To compare body composition, liver and muscle lipid content, and liver function of Alaska Native children with CPT1A deficiency, with similar measures in their unaffected siblings.
Measured: February 2009
Secondary outcomes (1)
To characterize the metabolic response of Alaska Native children with CPT1A deficiency to fasting,
Measured: February 2009
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Apr 2008 (estimated)
- Study startOct 2007
- Primary completionNov 2008
- Study completionFeb 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Carnitine Palmitoyl Transferase Type 1A (CPT1A) DeficiencyStudies of the same condition, open and under way.
- More trials run by Oregon Health and Science UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Oregon Health and Science University
- Sponsor type
- University, hospital or other
- Collaborators
- Alaska Department of Health and Social Services
- Investigators
- Melanie B. Gillingham, PhD, Principal investigator, Oregon Health and Science University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00653666
- Sponsor's protocol ID
- CTRC1029 (completed)
- Status last verified
- Feb 2010
- First submitted
- 3 Apr 2008
- Last updated
- 25 Feb 2010
- Results posted
- No
- Data monitoring committee
- No
Publications
Gillingham MB, Hirschfeld M, Lowe S, Matern D, Shoemaker J, Lambert WE, Koeller DM. Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant. Mol Genet Metab. 2011 Nov;104(3):261-4. doi: 10.1016/j.ymgme.2011.06.017. Epub 2011 Jun 28.
PubMed 21763168
Study at a glance
From the registry record, last updated by the sponsor on 25 Feb 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Consequences of CPT1A Deficiency in Alaska Native Children
- ClinicalTrials.gov ID
- NCT00653666
- Acronym / sponsor ID
- CTRC1029 (completed)
- Keywords
- CPT1A, steatosis, deficiency, metabolic, response, fasting
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Oregon Health and Science UniversityUniversity, hospital or other
- Collaborators
- Alaska Department of Health and Social Services
- Study start
- Oct 2007
- Primary completion
- Nov 2008 (actual)
- Study completion
- Feb 2009 (actual)
- First posted
- 7 Apr 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to learn more about how long children with CPT-1 deficiency can wait between meals without developing low blood sugar or symptoms of low blood sugar. The other purpose is to learn more about how much fat is stored in the liver of a child with CPT-1 deficiency.
Detailed description
With the advent of enhanced screening (via tandem mass spectroscopy, MS/MS), the Northwest Regional Newborn Screening Program (NWRNSP) has identified a high incidence of carnitine palmitoyl transferase type 1A (CPT1A) deficiency in Alaska Native infants. Since October of 2003 approximately 80 Alaska Native infants have been identified with this condition; previously only 30 published cases were known worldwide. All of the infants are homozygous for a c.1436C-T sequence variant in the CPT1A gene, which results in the substitution of a leucine for proline at amino acid position 479 (P479L), and an approximately 80% reduction of CPT1A activity (non-classic CPT1A deficiency) (7). The clinical implications of this very restricted level of enzyme activity are not known. However, patients with more severe reductions of CPT1A activity (as the result of other mutations) are known to be at high risk for hypoketotic hypoglycemia, liver dysfunction, and sudden unexplained death (1). Hepatomegaly with micro- and macro-vesicular steatosis is also common (16). Currently the treatment of Alaska Native infants and children with CPT1A deficiency is based on data from patients with more severe forms of CPT1A deficiency and other fatty acid oxidation (FAO) disorders. Our ultimate goal is to establish evidence-based guidelines for treatment of the form of CPT1A deficiency prevalent in the Alaska Native population. This pilot study addresses two specific questions and will provide the first glimpse of the physiologic effects of homozygosity for the c.1436C-T sequence variant in the CPT1A gene. These data will aid in the development of strategies for clinical management that can be evaluated in future prospective studies, and provide preliminary data required for applications for NIH funding for more in-depth characterization of the clinical consequences of this condition.
Study design
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Ages
- 3 to 5 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- CPT-1 deficiency
- homozygous for the c.1436C-T sequence variant
- greater than 6 kg
- otherwise healthy
- siblings must be free of CPT-1 deficiency but heterozygous for c.1436C-T sequence variant and otherwise healthy
Key exclusion criteria (4 listed)
- liver dysfunction
- diabetes
- renal disease
- metal plate in body
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Medically supervised fastingMetabolic fasting studies will be conducted over an 18-hour period or until blood glucose is < 40 mg/dl. If the YSI reading is 40 mg/dl or less, at any time during the study, then a blood sample will be collected, and the fast terminated by giving D25W IV and then feeding orally. | Other | – |
Primary outcome
To compare body composition, liver and muscle lipid content, and liver function of Alaska Native children with CPT1A deficiency, with similar measures in their unaffected siblings.
Time frame: February 2009
1 secondary outcome
To characterize the metabolic response of Alaska Native children with CPT1A deficiency to fasting,
Time frame: February 2009
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Feb 2010.
- Derived from this study: PubMed 21763168Gillingham MB, Hirschfeld M, Lowe S, Matern D, Shoemaker J, Lambert WE, Koeller DM. Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant. Mol Genet Metab. 2011 Nov;104(3):261-4. doi: 10.1016/j.ymgme.2011.06.017. Epub 2011 Jun 28.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Melanie B. Gillingham, PhD principal investigator
Oregon Health and Science University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Medically supervised fasting in people with Carnitine Palmitoyl Transferase Type 1A (CPT1A) Deficiency, run by Oregon Health and Science University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Feb 2010. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To compare body composition, liver and muscle lipid content, and liver function of Alaska Native children with CPT1A deficiency, with similar measures in their unaffected siblings. (time frame: February 2009). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00653666, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Feb 2010.